Tethered Cord Syndrome

What is a Tethered Cord?
The normal spinal cord begins at the junction of the skull with the cervical spine. The spinal cord fills the spinal canal throughout the neck and mid-back regions. At the upper portion of the lower back (the lumbar region) the spinal cord itself comes to an end. This is at the level of the first lumbar vertebral body. At this point, the end of the spinal cord is free, i.e. it is not attached to any of the surrounding structures. It is free to move as the person grows and as the lower back moves and bends. From the end of the spinal cord at the first lumbar vertebra level to the very tip of the spine at the level of the lower sacrum, there are only nerves that continue through the remainder of the spinal canal. A "tethered" spinal cord is a spinal cord that is tightly fixed at the distal or lower end so that there is not a normal amount of movement of the lower end of the spinal cord. During the formation of the embryonic spinal cord, the spinal cord fills the entire length of the spinal canal, from the first cervical vertebra (C1) to the end of the sacrum (S5). As the fetus grows during embryonic life, the bones of the vertebral column grow faster than the spinal cord itself. Thus, the distal end of the spinal cord comes to be located at the level of the first lumbar vertebral body (L1). If there is an abnormality affecting this normal "ascension" of the lower end of the spinal cord, something that binds the cord down toward the sacral level, the spinal cord is said to be tethered. This results in a tight pull or stretching on the lower portion of the spinal cord and can cause neurological damage as the tightness increases due to continued growth of the spinal column.

The neurological deterioration caused by tethering is unlikely to stabilize while there is still potential growth of the spine. Growth puts further stretch on the tethered spinal cord. If neurological findings are already present then further deterioration can be anticipated. Children are obviously more at risk than adults. An adult spine is no longer growing so if the neurological condition is stable, there is less chance of change than with a growing child. However, even adults with tethered cords can deteriorate. This deterioration is believed to be due to the daily "wear and tear" on the tethered and stretched spinal cord. Even though the adult is less likely to show neurological worsening, one should always be aware of the possibility of change. Some patients have required untethering surgery in their 50's or 60's.

What are the signs and symptoms of a tethered cord?
The signs and symptoms of tethering may vary from patient to patient. However, the signs and symptoms of a tethered cord are relatively constant despite the underlying cause of the tethering. Some of the more common symptoms are pain in the lower back region,fatigue, change in gait or walking pattern, or recurrent bladder infections. Some patients may not exhibit any symptoms. Signs (findings on examination) may include muscle weakness, sensory loss, incontinence or loss of control of bowel and bladder function and scoliosis or curvature of the spine. Tethering may cause an obvious neurological deficit by the time of birth but many children do not experience neurological changes until growth of the spine causes further stretching and tension on the lower spinal cord. It is important to recognize tethering of the spinal cord at an early age. The majority of patients with a tethered cord will experience deterioration of their neurological function as they grow if they do not have release of the tethering. Once neurological deficits have occurred, many patients will not have recovery of lost function. Since loss of neurological function is often subtle and slowly progressive in these patients, and because it may be difficult to notice changes such as loss of bladder control in an infant, early recognition of tethering is essential. It is important to recognize this condition and treat it early.

• Pain caused by a tethered spinal cord is usually located in the lower back region. It rarely radiates into the legs. The pain is increased with activity and relieved by rest. The typical patient will have to stop during activity to rest so that the pain will subside. This produces an "off again, on again" pattern of pain and rest so that it is usually easily apparent when this type of pain is occurring.

• Weakness. In a patient with a tethered cord, any change in strength of the muscles of the legs or feet is a sign of concern. Many patients will have a certain amount of weakness that has been present throughout their life. However, any deterioration from their baseline examination is a sign of progression of the tethering. There should not be progressive loss of function in a patient with a tethered cord.

• Sensory Loss. Loss of sensation may be seen when a patient is experiencing signs of tethering. The typical sensory loss is in the feet and around the genital area.

• Incontinence, or loss of bowel and/or bladder control, is a common sign of progressive tethering. Children who show early signs of tethering may have never gained good control. Children who gain normal toilet training and then begin to experience incontinence are showing signs of progression of the tethering process. Any documented loss of control is a relatively urgent indication for surgical intervention.

• Scoliosis, or curvature of the spine, is another sign associated with tethered cord. Progressive curvature of the spine in a patient with a known tethered cord is a sign of neurological progression. Occasionally scoliosis will be the initial symptom that there is a tethering process.

• Cutaneous Markers. Most patients with a tethered cord have a mark or discoloration of sometype on the skin of their lower back, usually in the midline. This is referred to as a "cutaneous marker". This may be a tuft of dark hair, a red coloration of the skin, a dimple that appears to go deep into the back, a localized subcutaneous collection of fat, or other similar abnormalities. The image below shows two different cutaneous markers in the same patient in the lumbar region of the back: a small area of very thin skin surrounded by a red discoloration and a separate area of red discoloration below. Other than the presence of a cutaneous marker, many children with a tethered cord are neurologically normal in their early years.

Which diagnostic tests are important?

When evaluating the spinal cord, the most helpful diagnostic images are obtained by Magnetic Resonance Imaging (MRI). These images give a clear view of the spinal cord and distal nerve roots as well as the surrounding structures. Since the images can be formatted in 3 different planes, a clear understanding of the anatomy is more easily achieved. Other imaging studies, including plain x-rays and computed tomography (CT) scans may also be helpful.

What is the usual treatment for tethering of the spinal cord?

Once signs and symptoms of spinal cord tethering are present, especially if progressive, conservative (non-surgical) management is rarely effective. Rest and physical therapy may be effective in relieving some of the early symptoms but the young patient is essentially doomed to worsen as time passes. The only effective treatment is surgical untethering of the underlying cause. The surgery for untethering of a spinal cord has two goals: first, to stop any further neurological deterioration, second, to hopefully see some improvement in any lost function. Once neurological function is lost it may never recover. This is why surgery is indicated when there are early signs of neurological change.

Although the causes of tethering vary, the general principles of the surgery are similar. The overwhelming majority of tethering is in the lumbar or sacral regions of the spine so the surgery is usually performed on the low portion of the back. A midline incision is made in the skin. The muscles are retracted away from the midline and exposure of the bones of the posterior spine is accomplished. The spinous process and arch of bone covering the posterior or back portion of the spinal canal (lamina) is removed in order to gain exposure to the cause of the tethering. The dura, the covering over the spinal cord and nerves) is opened, exposing the tethering process. The operation is usually done through the operating microscope or with the surgeon wearing special magnifying glasses so that vision is enhanced. Lasers or other specialized surgical equipment may be used. Depending on the cause of the tethering, the surgery may last many hours. Six to eight hours is not uncommon in complex cases. This operation is not one that usually has a lot of bleeding. Blood transfusions are rarely required.

The patient may be kept flat in bed for 24-48 hours. After that there is usually no need for prolonged bed rest. Depending on the neurological condition of the patient and the extent of the surgery, the patient may be restricted from vigorous activity for a few weeks.

Common Causes of Tethering of the Spinal Cord

Tethering of the spinal cord is almost always caused by a congenital condition, i.e. a birth defect. It occurs during the first 4-6 weeks of pregnancy. Tethering does not have one single cause. There are several different causes of spinal cord tethering. Although the underlying cause may vary, the signs and symptoms of tethering are generally the same among the various causes. Some of the more common causes of a tethered cord are as follows:

Lipoma or lipomyelomeningocele causes tethering due to fatty tissue connecting to the lower end of the spinal cord. This produces tethering by the attachment of the fat to the surrounding tissues of the back. It is important to recognize that the fatty tissue in a lipoma is normal fat, not tumor tissue. It is normal fat in an abnormal place. It will only grow in proportion to the remainder of the fat in the body. In the surgical procedure, the fatty tissue is disconnected from the attachment to the spinal cord and removed, thus untethering the cord.

Split cord malformation (diastematomyelia) is a complex congenital condition where the spinal cord is split into two halves, each half usually functioning normally (see the MRI images below).The split is in a plane running front to back. The split in the cord can occur at any level and the split cords may reunite or not at some point below the split. Occasionally there is no obvious cause of the split but usually there is bone, cartilage or fibrous tissue that is between the two halves of the spinal cord. The presence of the tissue splitting the spinal cord causes tethering. The surgical procedure is to remove any tissue that is between the two split cords, thus releasing any tethering that is present.

Dermal sinus tract is a small dimple-like opening in the midline of the spine that may connect deep into the spinal cord. The majority of dermal sinus tracts are located at the level of the sacrum or the lumbar region. The drawing on the right illustrates such a condition. Since these tracts may be openings that communicate with the contents of the spinal canal there is the possibility of meningitis developing. The dermal sinus attaches to the end of the spinal cord, causing tethering. The surgery is to remove any portions of the sinus tract that go into the spinal canal and to disconnect the sinus tract from the spinal cord, thus untethering it.

Fatty filum or thickened filum is a small, threadlike piece of connective tissue that connects the lower end of the spinal cord to the sacral end of the spinal canal. This is called the filum terminale. If the filum is thickened and is shorter than normal, it is usually filled with fat and it pulls down on the spinal cord, causing tethering. This surgical procedure is usually the simplest of all untethering operations. A single level of bone is removed in order to allow access to the tight and thickened filum. The filum is easily identified and cut. The filum has no neurological function so the procedure is unlikely to cause any neurological damage.

Myelomeningocele or spina bifida is the most common cause of tethered cord. Because of the open exposed end of the spinal cord at the time of birth, there is considerable scar tissue that develops at the end of the spinal cord and the area of the myelomeningocele known as the neural placode. Thus all children with myelomeningocele have tethering of the spinal cord from the time of birth. Because of this, these patients are watched closely as they grow for signs of neurological deterioration.

How many children with myelomeningocele will require untethering as they grow? We don't know the final answer to that question. It is apparent, however, that the percentage is relatively high. If you follow children with spinal bifida from birth through adolescence and teenage years, current data would suggest that approximately 25 percent will have symptoms suggestive of tethered cord and benefit from surgical intervention. Although children with myelomeningocele can have multiple anomalies and problems, their problems are related to the malformations that occur prior to birth and, in general they should not worsen or deteriorate as time passes. Obviously there are circumstances where deterioration may occur, but the natural history of a person with myelomeningocele should not be loss of function with advancing age. If neurological function is being lost a search for a treatable cause is required. Deterioration in bladder control, such as decreasing ability to maintain some continence with medication and intermittent catheterization, is a common sign of tethering. Increasing weakness in the legs, changes in the strength of the arms and hands, and progressive curvature of the spine are symptomatic of tethered cord.

It is unusual for a child with myelomeningocele to need tethered cord release at an early age. Some children have required untethering by 2 years of age, but this is quite uncommon. The more typical circumstance is for the child to be in the later childhood years before symptoms occur. However, if a child is operated at an early age and there is a significant growth of the spinal column yet to occur, the chance of needing a repeat procedure later in life is increased. A few children have required untethering two or three times because of the growth of their spine and due to their sensitivity to neurological changes caused by the tethering.

Once spine growth has been achieved (this is usually achieved at approximately age 13 in girls and age 16-17 in boys) there is less likelihood of symptomatic spinal cord tethering. If a child has to be untethered at 10-12 years of age they are much less likely to need repeat untethering because there is not as much spine growth left to occur. So the question of the number of surgeries and the interval between surgeries is dependent upon many factors. It is dependent upon the sensitivity of the given individual to neurological changes that may be occurring, it is related to spine growth and it is related to the potential for scar tissue formation that the individual may manifest. The overwhelming numbers of children with myelomeningocele who require untethering require only one procedure.

There is another point that is important to make. In the myelomeningocele population, when we speak of tethering, we are really speaking of symptomatic tethering. All children with myelomeningocele have a tethered cord caused by the scar tissue that forms due to the open myelomeningocele at birth and the surgery to close the opening. However, because the cord looks tethered, as seen on MRI, this does not necessarily mean that there will be symptomatic changes related to the tethering. In children with myelomeningocele the untethering operation is reserved for those who show deterioration. Surgery is not performed just because the MRI suggests that tethering is present. With this in mind, an untethering procedure will again produce tethering of the spinal cord because scar tissue naturally forms. Once the untethering has been accomplished the healing process starts and is associated with scarring. This leads to repeat tethering. However, it may not lead to symptomatic re-tethering. This is a very important distinction. The spinal cord will always look tethered on the MRI in patients with a myelomeningocele. An MRI is obtained prior to untethering operations to look for associated conditions. There may be evidence of a syrinx (loculated fluid within the central cavity of the spinal cord), cyst formation outside the spinal cord or small retained dermoid tumors that can occur from elements of the skin.

Once tethering symptoms have begun in the patient with a myelomeningocele, it still remains a judgment call as to how soon to perform surgery. If the primary symptom is pain and the patient is relatively stable and not requiring significant medication, then it is certainly reasonable to wait. If there are bladder changes, i.e. the child is no longer able to have any periods of continence with intermittent catheterization, this is a much more urgent situation and surgery should be scheduled relatively soon. Any loss of strength can be devastating to a patient who already has weakness and this is a signal to proceed with untethering. As a general rule any neurological function that is lost may not recover.

In patients who have shunted hydrocephalus, it is not uncommon for a shunt malfunction to mimic symptoms of a tethered cord. Patients with myelomeningocele may be very sensitive to any type of change affecting the lower spinal cord. In the case of a shunt malfunction, the pressure may build up in the spinal canal affecting the distal spinal cord and symptoms can mimic tethering. It is important to check shunt function before making a decision to proceed with untethering.

There is no technique for closure of the myelomeningocele at the time of the original surgery that will prevent tethering. However, there are some techniques that may minimize the amount of tethering that occurs. The open neural placode at the distal end of the spinal cord can be folded over and anatomically made into a tube by suturing the edges of the open placode together. This makes the distal portion of the spinal cord tubular in nature, shaped like the rest of the spinal cord and tends to minimize the amount of scarring that occurs. It is easier for the flat, open neural placode to form more dense scar to the overlying tissue of the lower back than a closed tubular-shaped distal spinal cord. It doesn't prevent tethering, but it seems to make the surgery for untethering easier and perhaps less risky.

Scar tissue formation is a normal response of the body to tissue injury. There is no way at present to prevent scar formation. Many different types of tissue have been tried in an effort to minimize the scarring as a result of tethered cord surgery. Silastic, Gore-Tex™, artificial dura, and many others have been tried as closure over the area of the surgery. None have been found to prevent scar tissue formation. There is nothing a present that can prevent this process.

Full article found here.

Neonatal Candidiasis

Full study article found here.

The incidence of candidiasis has increased in neonatal intensive care units, and invasive candidiasis is associated with significant morbidity and mortality. However, few data exist on outcomes directly attributable to neonatal candidiasis.

Methods. We estimated the incidence of systemic candidiasis in hospitalized neonates within the United States and determined the attributable mortality, length of hospital stay, and associated costs. We used the 2003 Kid's Inpatient Database from the Healthcare Cost and Utilization Project. Systemic candidiasis and comorbidities were defined by International Classification of Diseases, Ninth Revision, Clinical Modification codes. Neonates with uncomplicated births and neonates who died within the first 3 days of life were excluded. We used propensity score methods to balance covariates between the neonates with and neonates without candidiasis. Attributable outcomes were calculated between propensity score–matched neonates with and neonates without candidiasis. Because of the known confounding effect of birth weight, we performed separate propensity score analyses for extremely low birth weight (ELBW) neonates (i.e., neonates weighing <1000>

Results. The overall incidence of invasive candidiasis in neonates is 15 cases per 10,000 neonatal admissions (95% confidence interval [CI], 13–16 cases per 10,000 neonatal admissions). ELBW neonates with invasive candidiasis were 2 times more likely to die (odds ratio, 2.2; 95% CI, 1.4–3.5) than propensity-matched ELBW neonates without candidiasis. The propensity score–adjusted mortality rate attributable to candidiasis among ELBW neonates was 11.9%. Candidiasis in ELBW infants was not associated with an increase in length of hospital stay but was associated with a mean increase in total charges of $39,045 (95% CI, $1374–$76,715). Among infants with a birth weight 1000 g, those who had candidiasis did not experience a significant increase in mortality, compared with infants without candidiasis. However, the propensity score–adjusted length of stay and charges attributable to candidiasis among neonates with a birth weight 1000 g were 16 days (95% CI, 8–24 days) and $122,302 (95% CI, $80,457–$164,148), respectively.

Conclusions. Invasive candidiasis is associated with a significantly increased risk of death and excess hospital charges in ELBW neonates and with excess hospital stay and excess hospital charges in neonates with a birth weight 1000 g.

Candida species are the leading cause of invasive fungal infection in the neonatal intensive care unit (NICU) and are the third most common blood culture isolates recovered from cases of late-onset sepsis in the NICU. Candidiasis is frequently associated with dissemination and resultant end-organ damage. The incidence of neonatal candidiasis (candidemia and/or disseminated candidiasis) in extremely low birth weight (ELBW) infants (defined as infants with a birth weight <1000>1500 g.

Neonatal candidiasis is associated with significant morbidity and mortality, and previous epidemiologic outcome studies of neonatal candidiasis have reported crude mortality rates of 30%–60%, with ELBW infants experiencing the highest mortality rates. Determining the health impact of infection due to Candida species on premature neonates is an important, yet difficult, task. Attributable outcomes in premature neonates are difficult to determine because of the potential confounding effect of comorbid conditions related to prematurity that predispose individuals both to candidiasis and to poor outcomes. Although the high crude mortality rates associated with candidiasis are well documented, the proportion of neonatal mortality and other health care–related outcomes that is attributable specifically to candidiasis is unknown. Therefore, we conducted a retrospective cohort study of neonatal candidiasis and used propensity score analyses to determine the outcomes attributable to neonatal candidiasis with use of a nationally representative database of hospital discharges, prepared by the Agency for Healthcare Research and Quality.

We found that the mortality rate attributable to neonatal candidiasis in ELBW infants was 11.9%, whereas there was no significant increase in mortality rate among non-ELBW infants with candidiasis. We also found that candidiasis in ELBW infants had no effect on LOS and hospital charges but that, in non-ELBW infants, candidiasis was associated with a statistically significant increase in LOS and charges. Finally, we found that candidiasis is a disease that is seen almost exclusively in ELBW infants

Our estimate of a 26% crude mortality rate associated with candidiasis in ELBW infants is similar to prospective data collected by the National Institute of Child Health and Human Development–sponsored Neonatal Research Network (32%) and is almost identical to the findings of a previous retrospective study. Comparing our attributable mortality findings among ELBW infants with findings from previous studies is more difficult, because these studies included non-ELBW patients. In a prospective registry study of infants with birth weights <1500>

Our finding that candidiasis in ELBW infants had a relatively small effect on LOS and hospital charges may be attributable to censoring as a result of death, because more patients in the candidiasis group died and, therefore, had a shorter LOS than would otherwise have been the case, and LOS is directly related to hospital charges. In addition, the LOS of ELBW infants is likely to be driven by issues of gestational age and other issues of prematurity and not by neonatal candidiasis. This hypothesis is supported by the finding that, among non-ELBW infants, neonatal candidiasis was associated with significant increases in LOS and hospital charges; therefore, it was more likely for candidiasis to prolong the LOS of neonates who otherwise would not have remained hospitalized on the basis of gestational age.

Our incidence estimate for neonatal candidiasis among ELBW neonates is lower than estimates reported in previous studies. In a recent study that involved 128 NICUs participating in the National Nosocomial Infections Surveillance system, the incidence of candidiasis among ELBW infants between 2000 and 2004 was 5%. The lower incidence reported in our study may be attributable to the lower sensitivity of ICD-9-CM codes for the diagnosis of candidiasis. Our incidence estimate for candidiasis among non-ELBW neonates is low and is consistent with previous reports.

Use of these national administrative databases offers the unique advantage of allowing for the generation of nationwide estimates of candidiasis rates. Administrative data are limited, however, with specific regard to the possibility of miscoded or inaccurate information. Although 112.5 is the only ICD-9-CM code that explicitly describes systemic disease and has been used in a previous study of candidiasis that used administrative data, we are unaware of any analysis that has determined the sensitivity and specificity of this particular ICD-9-CM code for detecting cases, compared with, for example, a thorough review of all medical charts. In our review of the medical records of neonates with documented candidiasis at our center, we identified an additional code used for patients with candidiasis, 112.89, which resulted in improved sensitivity and positive predictive value. The addition of this code did not alter the association between candidiasis and death in ELBW infants. We believe that the coding practices for candidiasis at the other institutions are unlikely to be significantly different, given the rarity of the disease, as well as the unambiguous case definition of a patient with a blood or tissue culture that grows Candida species (compared with “sepsis,” which is not defined by the result of a definitive test). Our finding of high specificity and low sensitivity is consistent with the findings of previous studies that have used ICD-9-CM codes to identify cases in administrative databases; although high in specificity (i.e., resulting in few instances in which patients did not, in fact, receive a diagnosis of the condition), this method may be low in sensitivity (i.e., the administrative diagnosis may fail to detect all true cases).

Any analysis of a potential cause-and-effect relationship between candidiasis and clinical outcome would be strengthened by more information than this study and its datasets can provide regarding the temporal sequence of events and the severity of illness before the development of candidiasis. As with all observational studies, propensity analyses cannot completely control for the effect of confounding, because they can only adjust for factors that were measured in the cohort, and residual confounding, therefore, remains a possibility. Overall, the propensity-score matching served as an adequate and robust method for controlling a large number of factors, as shown by the lack of statistically significant differences among almost all of the observed variables. Finally, our sensitivity analysis revealed that an omitted confounding factor would have to be very common and be associated with a 5-fold higher risk of death in the candidiasis group than in the noncandidiasis group for the significant result to disappear, which is an unlikely scenario.

In summary, the attributable mortality of candidiasis among ELBW infants is substantial, whereas non-ELBW infants do not seem to experience excess mortality as a result of candidiasis but do have increased use of health care resources. Our results suggest that, in this population, 1 life would be saved for every 8 ELBW infants in whom candidiasis can be prevented. One single-center, randomized clinical trial has supported the use of antifungal prophylaxis for the prevention of candidiasis in ELBW infants; however, the incidence of candidiasis at that center was extremely high. Given the overall low incidence of candidiasis among ELBW infants, validation of clinical prediction rules that identify subsets of ELBW infants at particularly high risk for candidiasis, with subsequent intervention studies focused on this subgroup of infants, is critically needed. Previous investigators have suggested that preventative strategies should be targeted to populations with a baseline rate of candidiasis of >10%. We hope that these findings will be useful in the design and implementation of future interventions.

Neonatal Lupus

Full article found here.

An otherwise healthy 5-week-old infant with erythematous plaques predominantly on the face and scalp presented to our dermatology clinic. The mother had been diagnosed with lupus erythematosus 2 years earlier but her disease was quiescent. Neonatal lupus is a rare condition associated with transplacental transfer of IgG anti-SSA/Ro and anti-SSB/La antibodies from the mother to the fetus. Active connective tissue disease in the mother does not have to be present and in fact is often absent. Although the cutaneous, hematologic and hepatic manifestations are transient, the potential for permanent heart block makes it necessary for this to be carefully ruled out. As in this case, the dermatologist may be the one to make the diagnosis and should be aware of the clinical presentation, work-up, and management of this important disease.

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Clinical synopsis

A 5-week-old baby girl was referred to our clinic by her primary pediatrician for an acute erythematosus eruption that had began 10 days earlier. The clinical presentation was initially a red papule on the left cheek, which rapidly evolved into numerous papules and plaques on the face, scalp, trunk, and extremities. The patient's mother reported no problems with her pregnancy or delivery and that the baby had no other medical problems. The baby had no recent sick contacts, was eating normally, and was otherwise doing well. Initially the mother stated that she had no other medical problems, but later recalled that a physician once told her she had systemic lupus erythematosus (SLE) but that her condition was quiescent and she was not currently taking any medicines. There was no other known collagen vascular disease in the family. The baby was not followed for possible complications of SLE during the pregnancy.

Figure 1	Figure 2

Physical examination revealed an irritable but consolable and interactive baby girl in no acute distress. Her skin examination was notable for several well-demarcated erythematosus, scaly, hyperpigmented plaques. The lesions were concentrated on the scalp and face and with similar plaques were scattered on the trunk and lower extremities (Figs. 1 and 2). There was no mucosal involvement.

Given our high index of suspicion for neonatal lupus, we consulted cardiology to rule out congenital heart block. The electrocardiogram revealed normal sinus rhythm with normal axis and intervals; an echocardiogram did not identify significant abnormalities. Complete blood cell count, electrolytes, and liver function studies were all normal. The patient's serum was positive for anti-SSA/Ro and anti-SSB/La antibodies. With cardiac involvement ruled out, the mother was reassured that the cutaneous lesions would resolve and was given a mild topical steroid to apply to the lesional skin. The infant's lesions cleared at approximately 4.5 months of age. She required no further treatment and continued to do well. The mother was counseled about the risks of neonatal lupus occurring in subsequent pregnancies and was instructed to notify her obstetrician of her history so that appropriate screening tests would be performed.

Comment

Neonatal lupus is a rare condition attributed to passively acquired autoantibodies (particularly anti-SSA/Ro, anti-SSB/La antibodies) and characterized by cardiac, cutaneous, hematologic, and hepatic manifestations. Mothers of patients with neonatal lupus may have active systemic lupus erythematosus or Sjogren syndrome, or they may be asymptomatic [1]. The characteristic lesions are erythematous, annular plaques with a tendency to involve the scalp, face, and periorbital region often causing a raccoon-eyes appearance [2]. Cutaneous manifestations often present during the first or second month, but can be present at birth. The lesions are transient, resolving with the clearance of maternal autoantibodies from the neonatal circulation at approximately 6 months of age [3].

The greatest concern when making the diagnosis of neonatal lupus is the risk of congenital heart block, which occurs in 10 percent of the patients with neonatal lupus [4]. Congenital heart block can be diagnosed in-utero and once established it is irreversible [5]. The heart block is thought to result from the deposition of anti-SSA/Ro antibody at the atrioventricular node, which leads to fibrosis and calcification [6]. A recent study by Stea et al., showed that sera from mothers with lupus who gave birth to a child without neonatal lupus had higher anti-idiotypic antibody activity compared to mothers with a child with neonatal lupus, suggesting that the idiotypic antibodies may block pathogenic antibodies in the maternal sera [7]. Pregnant women with known systemic lupus erythematosus should undergo frequent monitoring of the fetal heart rate and weekly ultrasonography beginning at 16-17 weeks of gestation up to 26 weeks and then every other week until 34 weeks [5]. In any new case of neonatal lupus, an electrocardiogram should be performed to rule out a cardiac conduction deficit (e.g., heart block) and an echocardiogram should be performed to rule out cardiac malformations or cardiomyopathy.

Hematologic abnormalities may occur with neonatal lupus and thus all patients should have a complete blood count to rule out thrombocytopenia, leukopenia, anemia, and pancytopenia. Because hepatic abnormalities may occur, including hepatitis with elevated transaminase levels, liver function studies should also be performed.

A skin biopsy is rarely needed to make the diagnosis the diagnosis of neonatal lupus. The typical findings on histologic examination are hyperkeratosis with follicular plugging overlying an interface dermatitis with basalar vacuolar changes. Direct immunoflourescence demonstrates granular IgG deposition at the dermal-epidermal junction and, occasionally, IgM and/or C3 deposition.

Children with neonatal lupus do not have an increased risk for developing systemic lupus erythematosus [8]. However, the child born to a mother with SLE may be at an increased risk for developing some type of autoimmune disorder and thus, these children should be closely monitored by their pediatrician. Treatment of cutaneous lesions generally requires no more than mild topical steroids and general moisturizing.

Neonatal Drug Withdrawal

Excellent article on Neonatal Drug Withdrawal found here.

CUTANEOUS LESIONS OF THE BACK

EVALUATION OF CUTANEOUS LESIONS OF THE BACK

The significance of cutaneous spinal lesions is related to there association with spinal dysraphism. This is defined as an absent or incomplete fusion of the bony spinal column. Spina bifida aperta are posterior protrusions of neural tissue such as meningomyeloceles. Occult spinal dysraphism including meningoceles and tethered cords may not be recognized on physical examination and diagnostic imaging may be necessary to detect them. Cutaneous lesions may be predictors of these occult malformations and progressive neurologic deficits may be preventable by early diagnosis and neurosurgical correction. An important part of the neworn examination is the inspection of the lumosacral region and buttocks.

Midline lumbosacral skin lesions
1. Tufts of hair
2. Lipomas. These are soft subcutaneous masses
3. Dimples. Dimples below the intergluteal crease end blindly and are not connected to the spinal cord. Some above the crease have tracts leading to the spinal cord and may lead to the development of meningitis with unusual organisms, neurologic deficits, and tethering of the cord. All patients with meningitis should have a thorough inspection of their backs.
4. Hemangiomas
5. Teleangectasias
6. Skin hypertrophy or atrophy
7. Hyperpigmentation and hypopigmention of the skin
8. Skin tags

Tethered Cords
Greater than 50% of patients with tethered cords have an isolated cutaneous lower back lesion. Tethered cords are often asymptomatic until the child is ambulatory or presents with neurologic deficits. At birth, the conus is at the L-3 level and reaches the adult level ( L1-L2) at about 3 month of age. If the cord is tehtered, it is unable to ascend normally and blood supplies to the cord are compromised and ischemic changes result . Children may present with pain in the lower extremities, a limp, atrophy of an extremity, sensory abnormalities, urinary incontinence, and bowel difficulties. The bilateral nature of the symptoms and multiple levels of involvement, may be clues to the diagnosis. Prompt neurosurgical referral is suggested.

Diagnosis of Spinal Dysraphism
1. Careful examination of midline back of all newborns
2. Palpation of the lower spine and feel for incomplete fusion of the bony spine
3. Bladder abnormalities such as failure to urinate and empty the bladder completely
4. Unexplained constipation
5. Disparity of growth of the legs or neurological findings in the lower extremities including sensory abnormalities
6. Ultrasound of the the lower back is an effective noninvasive screening tool. May follow up with a CT scan or MRI.
7. Neurosurgical referral

Prevention of Neural Tube Defects
1. It is recommened that women of reproductive age take 0.4 mg of folic acid daily to decrease the risk of defects.

Ventriculoperitoneal Shunts

Ventriculoperitoneal Shunts

The function of cerebrospinal fluid is not entirely understood.

However, cerebrospinal fluid is believed to be an ultrafiltrate of blood that cushions the brain. It allows for removal of metabolic products and the proper environment for neuro- transmission.

Most CSF is produced by the choroid plexus in the lateral, third and 4th ventricles. It moves from the point of production secondary to differences in pressure, by cilia action, blood vessel pulsation, and respiratory variations. After production, it passes from the lateral ventricle through the paired foramina of Monro into the third ventricle. CSF is resorbed in the superior sagital sinus by arachnoid villous activity in a process of active transport that is affected by CSF pressure.

Hydrocephalus

1. Overproduction of CSF- unusual and caused only by choroid plexus papilloma
2. Blockage of the normal flow of CSF.
1. Communicating or Absorptive- blockage of the resorption of CSF in the arachnoid villi, basal cisterns, or subarachnoid space. The ventricles are patent and all 4 are enlarged.
2. Non-communicating- Obstruction proximal to the foramina of Lushka and Magendie at the outlet of the 4th ventricle.
1. Tumors
2. Cysts
3. Infection and hemorrhage
4. Congenital malformations
5. Aqueductal stenosis
3. The best treatment for hydrocephalus is the placement of a extracranial shunt from the ventricles to an outside absorptive surface (i.e., ventriculoperitoneal, ventriculo-atrial, ventriculopleural, etc.)

Shunts

1. Shunts usually consist of three parts
1. Proximal end that is radiopaque and is placed into the ventricle. This end has multiple small perforations.
2. Valve- this allows for unidirectional flow. Can adjust various opening pressures. Usually has a reservoir that allows for checking shunt pressure and sampling CSF
3. Distal end that is placed into the peritoneum or another absorptive surface by tracking the tubing subcutaneously

Shunt malfunctions

1. Median survival of a shunt (before need for revision) in a child under 2 years of age is 2 years; over two years of age is 8 - 10 years.
2. Signs and symptoms include headache, malaise, general not feeling well, vomiting, mental status alterations, increased blood pressure, head circumference increase, Cushings triad, bulging fontanel, sixth nerve palsy signs, Macewen's sign, changes in gait, and personality changes. There may also be an increase of seizures and a complaint of neck pain. The parents often know that something is wrong. Teachers may state that there has been a change of school performance
3. Obstruction- most often the proximal tip is obstructed with cells, choroid plexus, or debris. May also have kinking of the tubing and migration of the distal end.
1. Diagnosis by suspicion based on signs and symptoms and confirmed by CT scan of the head or shunt tap or lumbar puncture for CSF pressure elevation (ALWAYS RECORD A PRESSURE WHEN DOING AN LP!!!!).
4. Infection-
1. signs include fever, meningeal signs, vomiting, signs and symptoms of shunt malfunction, abdominal pain, and peritonitis.
2. There may be evidence of purulent material around the shunt insertion site and redness along the shunt tract
3. Most common organisms are S. epidermidis and S. aureus. Also gram negative organisms.
4. Diagnosis by positive blood cultures, shunt fluid cultures, or lumbar puncture cultures. Also the presence of greater than 10 cells in the fluid is suggestive of infection.

Infection peaks in the first few weeks after a shunt insertion. Infection years after shunt placement is rare unless the skin is broken over the tubing.

Treatment

1. Antibiotics including Vancomycin and Gentamycin
2. External Ventricular Drainage
3. Removal of the shunt.
4. Disconnections and breakage of tubing are another cause of malfunction, though less common than occlusion.
5. Migration into the scrotum, perforation of the bowel wall, and intussuseption are all rare complications in the peritoneum

In a child with a ventriculoperitoneal shunt, the shunt is statistically unlikely to be the cause of any specific problem. However, if family members suspect shunt malfunction or no other cause for fever, malaise, behavioral change, etc., can be found (i.e., ear infection), careful and diligent evaluation of the shunt is mandatory.

Cystic Fibrosis

Cystic Fibrosis

Cystic fibrosis is an autosomal recessive disease that is the most common cause of progressive obstructive lung disease in children and young adults. The incidence in Caucasians is 1 in 2000 to 1 in 3000. The carrier rate is approximately 1 in 25. The cystic fibrosis gene is located on chromosome 7 and this codes for the cystic fibrosis transmembrane conductance regulator (CFTR) This protein regulates electrolyte transport across cell membranes and abnormalities lead to increased viscosity of secretions and obstruction of airways and other channels. There are 500 known mutations but 70 mutations are common and identify over 90% of patients with cystic fibrosis.

Common Clinical Characteristics

1. Pulmonary

a. Wheezing, cough, recurrent respiratory infections and pneumonia

b. Chronic cough, increased AP diameter of the chest, clubbing

2. Gastrointestinal

a. Fatty stools due to pancreatic exocrine insufficiency

b. Poor weight gain despite large appetite

c. Hypoproteinemia, edema, anemia, Vitamin deficiency

d. Hepatomegaly

3. Newborns

a. Meconium ileus

b. Meconium peritonitis secondary to perforation

c. Inspissated bile syndrome and cholestasis, prolonged jaundice

4. Sinus disease with panopacification of the paranasal sinuses

5. Absent vas deferens with resultant azospermia

6. Rectal prolapse

7. Pancreatitis

8. Nasal Polyps

Diagnosis

1. The sweat test remains the gold standard for diagnosis of cystic fibrosis.

2. 60 meq/liter sweat chloride plus characteristic findings and + family history is diagnostic

a. Other causes of increased sweat chloride include adrenal insufficiency, mucopolysaccharidoses, Glycogen Storage Disease type I, hypothyroid, familial hypoparathyroid, malnutrition, ectodermal dysplasia, and Lab error.

3. May be difficult to collect adequate sweat in newborns and genotyping for the CFTR mutation may be performed

4. It is imperative that this difficult to perform test is done in a lab that has experience doing the test.

Management of Cystic Fibrosis

1. Mobilization of airway secretions

a. Chest physiotherapy

b. Inhaled bronchodilators

c. Mucolytic agents N-acetylcysteine (Mucomyst) and rhDnase (Pulmozyme)

2. Treatment of Infections ( Staphylococcus aureus and Pseudomonas aeruginosa

a. Antimicrobials - oral, IV, and aerosols

3. Evaluation periodically with pulmonary function testing

4. Lung transplantation.

5. Treat airway reactivity with bronchodilators such as albuterol, Theophylline, and steroids

6. Pancreatic enzyme replacement with meals and snacks.

7. High protein and caloric diets

8. Vitamin supplementation for fat soluble vitamins- A. D. and E. Vitamin K until one year of age

9. Newborns

a. Gastrograffin enemas for meconium ileus

10. Monitor for hepatic disease, biliary obstruction, gallstones, and cirrhosis

11. 30% develop diabetes mellitus by 18 years of age.

12. Genetic counseling

Prognosis

1. Median survival about 30 years

Retinopathy of Prematurity

ROP is a disorder of the developing retinal vasculature that occurs with interruption of the forming retinal vessels. Constriction and obliteration of the advancing capillary bed are followed by neovascularization of the retina, which can extend into the vitreous. The most serious and feared complication of ROP is retinal detachment. ROP has previously been known as RLF- Retrolental Fibroplasia, a very advanced form or ROP with end stage fibrosis and scarring behind the lens.

Incidence � The Cryotherapy for ROP trial, a prospective cohort study that observed 4000 infants of birth weight <>

Development of ROP: It is postulated that there are two events that occur

1. Vasoconstriction and obliteration of the capillary network in response to a vascular insult ( possibly high supplemental O2 concentration)
2. Vasoproliferation- possibly a response by the hypoxic retina to an angiogenic factor released by the insult � thought that hypoxia can cause an overexpression of VEGF that can induce abnormal retinal angiogenesis.

Etiology of ROP: multifactorial and still unclear

1. Oxygen administration originally was thought to contribute to the development of ROP. This is now being debated. The STOP ROP- Supplemental Therapeutic Oxygen to Prevent ROP study investigated whether supplemental therapeutic oxygen for premature infants reduces the proportion of infants that progress to threshold ROP. The study found that the more liberal use of oxygen actually decreased the risk of progression to threshold ROP in these infants from 48% to 41%. Threshold ROP is defined as disease progression to the point of necessitating peripheral retinal ablation therapy.
2. Prematurity- birth weight <>

Risk Factors for development of ROP:

1. Extreme Prematurity � the most significant risk factor
2. Thought to be related to oxygen administration
3. Other possible risk factors: apnea, sepsis, hypoxia, hyper or hypocapnia, IVH, Caucasian race

International Classification of ROP (ICROP)

Three components used to determine the extent of disease: the zone in which ROP occurs, the stage of ROP, and the presence or absence of plus disease.

Zone 1- the most posterior � an area within twice the distance from the optic nerve head to the fovea

Zone 2- ROP outside of zone 1

Zone 3- ROP only present on the temporal side of the eye

• Stage 1- a line of demarcation develops from the vascularized region of the retina and the avascular zone
• Stage 2- the line becomes a ridge that protrudes into the vitreous. Histological evidence of an A-V shunt
• Stage 3- Extra-retinal vascular proliferation occurs with the ridge. Neovascular tufts can be found posterior to the ridge.
• Stage 4- Scarring and fibrosis can occur when the neovascularization extends into the vitreous. This can cause traction on the retina, leading to retinal detachment.
• Stage 5 � Indicates total retinal detachment.
• Plus Disease � can occur when vessels posterior to the ridge become dilated and tortuous.

Diagnosis of ROP:

National (AAPOS, AAP, AAO) recommendations for ROP screening exams in premature infants:

1. Infants <1500> 1500g with poor clinical course � dilated eye exams at 4-6 weeks of age. Exams are to continue every 2-4 weeks until retinal maturity is reached.
2. Infants with ROP or immature retinal vessels are to have exams every 1-2 weeks until vessels are mature.

Treatment of ROP � Treatment is initiated when there is ROP in zone I or II, with five contiguous or eight cumulative clock hours of stage 3, and with plus disease � where severe visual loss occurs approximately 50% of the time. (Threshold Retinopathy)

1. Cryotherapy- an attempt the prevent further progression of the disease by destroying the cells that may release angiogenic factors. If both eyes have threshold ROP, only one eye is treated due to the risk of vitreous hemorrhage. If there is a very high risk of bilateral retinal detachment, the procedure can be performed in both eyes.
2. Photocoagulation � laser photocoagulation procedure done to destroy cells that could lead to disease progression. In a meta analysis of four photocoagulation trials, this procedure was found to be at least as effective as cryotherapy.
3. Retinal reattachment � an attempt to treat stage 5 disease, has a low success rate.

Prognosis of ROP � 90% of Stage 1 and Stage 2 disease regresses spontaneously. Approximately 50% of Stage 3 disease can regress spontaneously. Prognosis for stage 4 and 5 disease is poor, with a high incidence of visual problems and retinal detachment.

Neonatal Intestinal Obstruction

NEONATAL INTESTINAL OBSTRUCTION

99% of healthy full-term infants pass their first stool or meconium within 24 hours of birth and all healthy term neonates should do so by 48 hours.

With preterm infants the length of time can extend up to 9 days.

Neonatal intestinal obstruction occurs in 1/1500 live births. Etiologies are from intrinsic developmental defects, abnormalities of peristalsis or abnormal intestinal contents, or from insults in utero after the formation of normal bowel. Failure to recognize neonatal bowel obstruction can result in aspiration of vomit, sepsis, mid-gut infarction or enterocolitis.

Differential Diagnosis for failure to pass meconium:

1. Disorders of the small intestine
1. Duodenal atresia
2. Jejunoileal atresia
3. Malrotation and volvulus
4. Meconium ileus
2. Disorders of the large intestine
1. Meconium plug syndrome
2. Anorectal malformation
3. Hirschsprung's disease
4. Small left colon syndrome
3. Other causes
1. Narcotics
2. Electrolyte abnormalities; hypermagnesemia, hypokalemia, hypercalcemia
3. Hypothyroidism
4. Sepsis
5. Congestive heart failure

Meconium plug syndrome: Meconium plug syndrome is the most common form of functional bowel obstruction in the newborn, with an incidence of 1/500.

It is a transient form of distal colon or rectal obstruction caused by inspissated and dehydrated meconium, the etiology for which is unknown.

Diagnosis is made through barium enema revealing the outline of meconium plug. Barium enema can also be therapeutic along with rectal stimulation in inducing passage of the meconium.

Generally, infants with meconium plug syndrome have normal bowel function after passing the meconium plug.

Anorectal malformation: The incidence of anorectal malformation is 1/4000 live births, including anal stenosis, imperforate anus, and fistula.

Malformations are caused by a defect in embryonal development where the urorectal septum, lateral mesoderm and ectodermal structures combine to form the normal rectum and lower urinary tract.

70% of infants with anorectal malformation have associated anomalies. The mnemonic VACTERL is used to describe the combination of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects and radial limb hypoplasia.

Anal stenosis accounts for 20% of anorectal anomalies and treatment is with dilatation.

The mortality rate for patients with anorectal malformation is directly related to associated anomalies.

Malrotation and volvulus: Malrotation of the midgut is caused by a failure of normal bowel rotation. The mid-gut does not complete its normal 290° counterclockwise rotation during embryologic development, resulting in abnormal placement and fixation of the small bowel. This can cause obstruction and sometimes infarction of the small and large bowel, known as volvulus. Volvulus usually occurs within the first week of life.

Upright abdominal films reveal the classic double bubble sign, showing air in the stomach and proximal duodenum.

Treatment is with the Ladd's procedure involving counterclockwise reduction of the volvulus, release of adhesive bands (Ladd's bands) to mobilize the duodenum, and appendectomy. Recurrence of mid-gut volvulus after the Ladd's procedure can occur in up to 10% of cases.

Meconium ileus: This disorder is differentiated from meconium plug syndrome by location of the stool. In meconium ileus, the thick, tenacious bowel is most commonly found in the ileum but occasionally occurs in the jejunum or proximal colon.

90%-95% of patients with meconium ileus have cystic fibrosis. But, only 15% of cystic fibrosis patients will have meconium ileus as neonates. Associated anomalies such as volvulus, jejunoileal atresia, or bowel perforation occur in over half of infants with meconium ileus.

Duodenal atresia: The etiology of duodenal atresia is from failure to recanalize the lumen after the solid phase of intestinal development. This occurs between the 4th and 5th week of gestation. 40% of the patients with duodenal atresia have Down Syndrome. Diagnosis can be made in utero if polyhydramnios is present. Plain films can reveal the double bubble sign and an upper GI series might be necessary to distinguish between malrotation and duodenal atresia. Treatment is with duodenoduodenostomy.

Hirchsprung's disease: Hirchsprung's disease, or congenital aganglionic megacolon, is a motor disorder of the colon that causes a functional intestinal obstruction. It occurs in 1/5000 infants with a male to female predominance of 4:1. The pathogenesis of the disease is failure of migration of the neural crest cells that form the colonic ganglion cells. Without parasympathetic innervation, the colon cannot relax or undergo peristalsis, resulting in a functional obstruction.

The aganglionic segment is limited to the rectosigmoid in the majority of patients. 10% have full colonic involvement and in 10% more, there is lack of ganglion cells into the small bowel.

Diagnosis of Hirchsprung's disease can be made with barium enema, revealing a transition zone between the constricted aganglionic segment and the proximal, normally dilated segment.

Confirmation of the diagnosis is made with rectal suction biopsy.

The treatment of Hirchsprung's disease is through surgical resection of the aganglionic bowel.

The major complications of the disease, even after surgical resection, are bowel obstruction and enterocolitis.

Full article found here.

Hypoglycemia in the Neonate

The definition of hypoglycemia in infants is a current medical controversy, as asymptomatic hypoglycemia is generally not related to significant morbidity, and many healthy neonates have been found to have transiently low blood glucose concentrations. However, due to uncertainty about the level and duration of hypoglycemia that causes brain damage, an operational threshold has been defined. Currently, it is standard practice to treat and evaluate newborns with a plasma glucose concentration less than 40 mg/dl on the first day of life, and less than 40 to 50mg/dl after 24 hours of age.

Risk Factors

1. Premature infants
2. Infants of diabetic mothers
3. Infants who are small or large for gestational age (SGA or LGA)
4. Infants with sepsis or history of birth asphyxia
5. Infants of mothers treated with hypoglycemic or beta-adrenergic agents (tocolytics)
6. Insulinomas
7. Hypopituitarism and adrenal insufficiency
8. Erythroblastosis fetalis
9. Inborn errors of metabolism- glycogen storage diseases, aminoacidurias, organic acidemias, fatty acid oxidation defects, galactosemia

Common Symptoms

1. Tremors, jitteriness
2. Change in level of consciousness (irritability, stupor, lethargy)
3. Apnea, bradycardia, cyanosis, tachycardia, tachypnea
4. Hypothermia
5. Poor feeding or poor suck
6. Seizures
7. OR, infants may be asymptomatic and diagnosed because fall into high risk group

Diagnosis

1. Maternal history of drugs, diabetes, preterm or post term delivery

2. Growth parameters abnormal

3. Septic appearing

4. Family history of metabolic disorder

When a patient presents acutely with hypoglycemic symptoms, it is imperative to rapidly assess blood glucose measurements at the bedside, often using a reflectance meter or a Chemstrip. These values should be confirmed by laboratory measurement.

If hypoglycemia persists and does not respond to routine therapies, then the neonate must be evaluated for hyperinsulinemia, endocrinopathies, and inborn errors of metabolism.

Complications

Prolonged or recurrent low blood glucose levels are well known to cause seizures and neruologic sequelae. Unfortunately, the level of blood glucose and the duration of time that it remains low enough to cause damage are unknown. For this reason, in order to prevent the terrible sequelae that may result from prolonged hypoglycemia, it is imperative that it is discovered early and quickly corrected. It is unknown if asymptomatic hypoglycemia can cause brain damage.

Treatment

1. Introduce early enteral feedings with formula

2. If not taking oral fluids, IV glucose should be administered

3. Follow up to make sure that normal glucose levels are maintained

4. Corticosteroids

5. Glucogon if there are adequate liver stores of glycogen

Full article found here.

Abdominal Masses in Neonates

Abdominal Masses in the Neonatal Period

The discovery of an abdominal mass on physical examination in the newborn period causes concern and the need for a rapid diagnosis. The incidence of an abdominal mass is 1/1000 live births.

With the introduction of fetal ultrasound, many abdominal masses are diagnosed in utero. Many dilatations of the urinary tract diagnosed in utero resolve spontaneously. In utero procedures to correct most anomalies are still experimental . The majority of masses are of benign origin and greater than 50% are of renal origin. The majority will be diagnosed with a good history, physical examination, and ultrasound evaluation.

History

1. Was there a prenatal ultrasound performed?
2. Are there any GI symptoms such as vomiting and poor feeding?
3. How much amniotic fluid was present?
4. Any family history of masses or renal disease?

Physical Examination

1. Location of the mass- flank, mid-abdomen, or suprapubic
2. Is the mass solid, cystic, smooth, or tender?
3. Is there hepatosplenomegaly?
4. Other physical findings unrelated to the mass- facies, rectal, lung exam, other anomalies.

Common Etiologies of Abdominal Masses

1. Renal (55%)
1. Multicystic dysplastic kidney- usually a flank mass and irregular surface. If bilateral, usually some intrauterine obstruction. On ultrasound hypoechogenic. Usually removed surgically prior to development of hypertension.
2. Hydronephrosis- neonates are usually asymptomatic and present with a flank mass. Most are secondary to an obstruction at the ureteropelvic junction. May also be associated with reflux. Surgically repair and may need nephrostomy to decompress first.
3. Polycystic Disease
1. Infantile is inherited as autosomal recessive and associated with hepatic cysts and pulmonary hypoplasia. Poor prognosis.
2. Adult Polycystic Disease- autosomal dominant inheritance and rarely seen in childhood
4. Posterior Urethral Valves -may have enlarged kidneys or bladder
5. Renal Vein Thrombosis- history of dehydration and hemoconcentration. May have hematuria and Proteinuria.
6. Mesoblastic Nephroma-a benign hamartoma that may have associated hematuria. Remove and pathology will differentiate from rare Wilm's tumor.
2. Adrenal Masses and other retroperitoneal(10%)
1. Hemorrhage- associated with birth trauma.
2. Neuroblastoma- may have calcifications on plain film of the abdomen
3. Enlarged liver - (5%) there may be cysts, tumors, and hemangiomas. Choledochal cyst of the gall bladder often presents with jaundice
4. Duplications of the Gastrointestinal tract-and other GI lesions (15%) Duplications most commonly in the ileocecal area and most do not communicate with the intestines.
5. Pelvic and Genital Tract (15%)
1. Ovarian cysts
2. Hydrometrocolpos
3. Distended bladder
4. Teratomas
5. Anterior meningomyeloceles

Evaluation

1. History and Physical examination
2. Abdominal radiograph- will show gas pattern, displacement of organs may identify location of the mass. May also show calcifications associated with neuroblastoma, meconium peritonitis, and hepatoblastoma.
3. Ultrasound- Will differentiate solid from cystic and locate which organ the mass is located in.
4. CT and MRI- will provide more anatomic detail.
5. Include the obstetrican, surgeon, and urologist in the process of evaluating abdominal masses.

Full article found here.

INTESTINAL OBSTRUCTION

INTESTINAL OBSTRUCTION
A. Diagnosis and preoperative management:
•Intestinal obstruction should be suspected with maternal history of
polyhydramnios, large amount (>20 mL) of gastric fluid at birth, bilious or nonbilious
emesis, or progressive abdominal distension.
•Common causes include duodenal, jejunal, ileal, or colonic atresia, malrotation
with mid gut volvulus, meconium ileus with associated cystic fibrosis, meconium
plug, Hirschsprung’s disease, imperforate anus, and hypoplastic left colon.
•Infants with bowel atresia may pass meconium.
•The higher the obstruction, the more prominent is the vomiting. The lower the
obstruction, the more prominent is the distension.
•Make infant NPO, start IV, and monitor electrolytes, urine output and weight.
•Place Replogle tube to continuous suction and measure output.
•Obtain KUB looking for
-“double bubble” sign of duodenal atresia. If present, no further GI workup is
needed and patient should go to surgery when stable.
-multiple dilated loops of bowel indicating a more distal obstruction
-intraperitoneal calcifications suggestive of perforation with meconium ileus
-air throughout bowel to the rectum suspicious for Hirschsprung’s disease
-bubbly-appearing stool filling the bowel suggestive of meconium ileus and
cystic fibrosis
•Upper GI contrast study (with dilute Hypaque™or Gastrograffin™) may be
required to assess for malrotation and possible volvulus.
•Contrast enema using Gastrografin™ or dilute Hypaque™ may be done to identify
an area of obstruction or to relieve meconium plug or meconium ileus.
•Suspect acute volvulus secondary to malrotation if the baby has signs of shock,
metabolic acidosis or peritonitis. If there are signs suggesting volvulus,
emergency operation is indicated since gut viability may be threatened.
•Suspect Hirschsprung’s disease with repeated episodes of abdominal distension
or very delayed passage of meconium. Diagnosis can be made with suction rectal
biopsy. If no ganglion cells are seen, a surgical biopsy will confirm the diagnosis.
•Infants with Hirschsprung’s disease are at risk for development of fatal toxic
megacolon until the bowel has been decompressed by corrective surgery or
colostomy. Surgeons may choose to decompress initially with rectal irrigation.
This is different from simple enemas.
•Imperforate anus may be the sole abnormality or may be part of the VATER
association. Look carefully for evidence of recto-vaginal, recto-urethral or
perineal fistula. Ultrasound may help determine if the defect is low (and easily
repaired) or high (requiring colostomy drainage). These patients will need
eventual workup for tethered spinal cord and urinary tract anomalies.
B. Post operative management:
•IV fluid replacement at maintenance levels with parenteral nutrition (see P. 136)
starting within 2d of operation. Intermittent fluid boluses may be required in the
first 48h to maintain adequate urine output and to treat hypotension and
hypoperfusion. Consider early use of low-dose dopamine (3-5 mcg/kg/min).
•If there has been extensive bowel manipulation, the baby may require baseline
fluid administration 1.5 times normal (i.e., 150 mL/kg/d) because of capillary
leak. Use Lactated Ringer’s Solution with 5% or 10% dextrose for at least the
first 24h after operation.
•Maintain Replogle tube to continuous suction and measure output. If drainage is
more than 10 mL/kg per 12h shift, replace volume loss with an equal volume of
0.45% NaCl.
•Replogle tube may be removed when drainage is minimal and non-bilious.
•After the baby has passed stool, start feedings with small volumes and advance
slowly over the next 48h to ensure that baby is not developing abdominal
distension secondary to postoperative ileus or to stricture at the anastomotic site.

ESOPHAGEAL ATRESIA WITH OR WITHOUT TEF

ESOPHAGEAL ATRESIA WITH OR WITHOUT TRACHEO-ESOPHAGEAL FISTULA (TEF):
A. Diagnosis and preoperative management:
•Esophageal atresia may often be suspected prior to the first feeding by a history of
polyhydramnios or observation of copious oral secretions than require very
frequent suctioning.
•Attempt to pass feeding tube with radiopaque line into the stomach. If the tube
does not pass, leave in place and obtain chest x-ray and KUB.
•Do not obtain contrast study. This may result in aspiration.
•If the tube curls up in blind esophageal pouch and there is no air in bowel, assume
a diagnosis of esophageal atresia.
•If the tube curls up in blind esophageal pouch and there is air in the distal bowel,
assume a diagnosis of esophageal atresia with distal TEF.
•Keep infant in a position with the head up to prevent aspiration.
•Place Replogle tube on continuous suction to drain the blind pouch.
•Avoid bag and mask ventilation and nasal CPAP to prevent over-distension of the
stomach. If the baby needs respiratory assistance, intubate the infant.
•If the baby has severe lung disease and a distal TE fistula, ventilation of the lungs
may be extremely difficult because of the low resistance through the fistula into
the stomach and bowel. Notify surgery immediately as the baby may need
immediate closure of the fistula or an emergency gastrostomy with placement of a
distal esophageal balloon to facilitate adequate ventilation.
•Examine infant carefully for other anomalies associated with VATER or
CHARGE, including vertebral abnormalities, radial anomalies, choanal atresia,
imperforate anus, renal abnormalities, congenital heart disease, coloboma or
evidence of Down syndrome.
B. Post operative management:
•Regular maintenance IV fluids with extra boluses of normal saline as needed for
oliguria, hypotension, or poor perfusion. If infant requires >15 mL/kg of extra
fluid, consider starting dopamine at 5 mcg/kg/min to ↑ blood pressure and
perfusion to kidneys.
•If a chest tube is in place draining the area of the anastomosis, do not connect the
pleuravac to suction without consulting with the Attending Surgeon. The chest
tube is usually in place for 7-10d until x-ray studies show no leak at the
anastomosis.
•If the anastomosis is under tension, the surgeons will often want to keep the baby
on muscle relaxants postoperatively for a few days to a week, to prevent
disruption of the anastomosis.
•Do not extubate until the baby is extremely stable on very low ventilatory settings,
because positive pressure mask ventilation must be avoided to prevent
transmission of pressure to the esophagus, which may rupture the anastomotic
suture line.
•If the baby needs to be reintubated, the most experienced person should do this.
Faulty (i.e., esophageal) intubation could result in injury to the anastomosis.
•Leave the orogastric or nasogastric tube in place until x-ray studies show no leak at
the anastomotic site, and Pediatric Surgery agrees to removal of the tube. If the
tube accidentally comes out, do not reinsert tube without consulting with the
Attending Pediatric Surgeon, as you may damage the anastomosis.
•X-ray contrast study should be done at approximately 10 days postoperatively to
assess for leakage at the anastomotic site prior to starting oral feedings.
Gastrostomy tube feedings and NG tube feedings may be started earlier.