Faculty Bibliography

Neuroendocrine tumors of the pancreas are rare in children. They usually occur in the setting of genetic syndromes such as multiple endocrine neoplasia type 1, von Hippel-Lindau disease, and neurofibromatosis 1. These tumors have also been reported in the tuberous sclerosis complex (TSC), but the incidence is low in comparison with other syndromes. Only 9 cases have been described to date, and it is not yet well understood if any connection exists between TSC and pancreatic endocrine tumors. TSC is characterized by mutations in TSC1 and TSC2 genes, which activate the AKT-mTOR oncogenic cascade. Recent molecular studies in pancreatic endocrine tumors showed activation of the same pathway, which points toward a common molecular pathway between these two entities. We present a case of well-differentiated neuroendocrine carcinoma of the pancreas in a child with TSC and discuss the genetic aspects of this disease

Familial dysautonomia (FD) is an autosomal recessive disorder characterized by autonomic and sensory neuropathy. Owing to pervasive dysfunction, the disease has protean clinical manifestations, affecting the ocular, gastrointestinal, pulmonary, orthopedic, vasomotor, and neurologic systems. The gastrointestinal perturbations, including dysphagia, gastroesophageal dysmotility, gastroesophageal reflux, and vomiting crises, are among the earliest signs. Here, we present the first 3 instances of gastric ulcers in patients with FD and discuss their common presenting features and the special management that was required

Duplicate bladder exstrophy is a rare variant of the exstrophy/epispadic lesions in which an external patch of exstrophic bladder presents in addition to a closed bladder in a more normal anatomical position, diastasis of the pubis and rectus muscles, and often a form of epispadias. We describe an anomaly of this variant with a fistula to the closed bladder. Careful examination with fluoroscopy and cystoscopy is helpful in defining the anatomy in these variants

BACKGROUND: Access to health care has been a source of controversy and public attention in health policy. The issues of access to and utilization of the healthcare system by infants and children is less well documented. Moreover, the impact on outcomes of race, ethnicity, and economic status in infants is vaguely addressed. METHODS: We performed a retrospective analysis of children who had undergone pyloromyotomy from July 31, 1998 to July 31, 2008 at our public hospital and university teaching hospital. Data abstracted included gestational age at delivery, birth weight, gender, race, insurance status, age at presentation, symptom duration, preoperative ultrasound (US), operative date, laboratory evaluations, as well as preoperative, postoperative, and total length of stay (LOS). RESULTS: The mean total preoperative LOS was twice as long at our public hospital than our private hospital (1.78 d versus 0.85 d, P=0.003). Similarly, the mean total length of stay was 0.87 d longer at our public hospital (3.87 d versus 3 d), which trended toward significance (P=0.06). Significantly, 72% (27/33) patients at the private hospital had their US either as an out-patient or on the day of admission, while only 58% (28/48) had an US performed as expeditiously at the public hospital (P=0.03, chi(2) analysis). CONCLUSIONS: Care at our public hospital leads to delayed diagnosis and treatment, resulting in longer preoperative and total LOS in infants with pyloric stenosis, most likely related to the timing of the preoperative US. Efforts should be made to encourage patients to use the outpatient clinic facilities for their ill infants, or for physicians at public hospitals to expedite the US process once the diagnosis of pyloric stenosis is entertained

Background. Access to health care is a well-recognized issue in health policy, but use once patients have entered the health care system is uncommonly addressed. Methods. We performed a retrospective review of children between 2 and 17 years of age with pathologically confirmed appendicitis at our public city hospital and private university hospital and compared management and outcomes. Results. Among patients with acute appendicitis, the median length of stay was a day longer in the public hospital (2 days vs 1 day, P = < .001) despite a similar complication rate (12% vs 11%). More computed tomography (CT) scans were performed at the public hospital (36% vs 21%, P = .02) with a trend toward less use of ultrasound (US) (54% vs 65%, P = .13). Conclusions. Children at the public city hospital have a longer length of stay and undergo more expensive imaging. These findings may provide areas for improvement to optimize the care of children with appendicitis at government-funded institutions

ABSTRACT Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them

Concomitant hereditary spherocytosis and sickle cell trait, although extremely rare, could potentially lead to splenic sequestration or infarction. We report here the first case of splenic infarction in a child with hereditary spherocytosis and sickle cell trait while flying on a commercial aircraft. The presence of hypoxia, hemoconcentrated erythrocytes, and sickle hemoglobin created the perfect environment for clinical sequelae

Calcified catheter 'cast' found on radiologic studies after central venous catheter removal is a rare complication that has been reported twice. Both cases were associated with thrombus. In this case report, we present a 15-year-old boy with acute lymphoblastic leukemia who demonstrated on CT scan a radiopacity in his left brachiocephalic vein after removal of an implanted venous access device. This was initially thought to be a retained catheter fragment. Diagnostic studies, including venogram, excluded the presence of a retained catheter fragment. Additional procedures to retrieve a nonexistent catheter fragment were thus avoided. Therefore, a catheter 'cast' should be considered as part of the differential diagnosis when calcification is found on an imaging study after removal of an implantable venous access device to prevent an unwarranted surgical exploration

BACKGROUND/PURPOSE: Long-term follow-up of fundoplication in patients with familial dysautonomia (FD) has revealed a high rate of recurrent gastroesophageal reflux. This may be because of the unique characteristics of patients with FD which include autonomic denervation accompanied by cyclic vomiting and retching. We reviewed our results with adaptations to the Nissen fundoplication to determine which would be most effective in preventing the need for reoperation. METHODS: We reviewed the records of 108 patient with FD who underwent fundoplication by a single pediatric surgeon from November 1978 to July 1, 2004. Patients were divided into 4 groups based on the operative technique: standard Nissen fundoplication, Nissen with a posterior gastropexy, Nissen with posterior gastropexy and a superior anchoring suture, and Nissen with a reinforced suture line in addition to the previous modifications. Demographic data and surgical outcomes were abstracted. RESULTS: Patients who underwent a Nissen fundoplication with a reinforced suture line were significantly less likely to require a reoperation for recurrent reflux than any other patients (P = .05, Fisher's Exact test) despite the fact that they were younger than patients who underwent a standard Nissen alone. CONCLUSION: The addition of a reinforced suture line to the standard Nissen fundoplication decreases the failure rate for patients with gastroesophageal reflux and FD. A reinforced suture line may be an attractive modification for patients where the fundoplication may be under continued physical stress caused by autonomic perturbations, or other conditions such as uncontrolled seizures or progressive neurologic decline

BACKGROUND: Obesity in the adolescent population has reached epidemic proportions. Although diet and behavior modification can help a minority of teenagers, most of these patients go on to become obese adults. Recently, surgical intervention for morbid obesity has gained increasing support. To date, this has only included gastric bypass procedures. However, this procedure carries at least a 1% mortality rate even in the hands of the most experienced surgeons. Therefore, our center has been using laparoscopic adjustable gastric banding (LAGB) to treat adolescents with morbid obesity. This analysis is a report of our short-term results in our first 53 patients. METHODS: All adolescents aged 13 to 17 years who had undergone LAGB at our institution and had been entered into our prospectively collected database since 2001 were reviewed. Data collected preoperatively included age, sex, race, and body mass index (BMI). Postoperatively recorded data included length of stay, operative morbidity, need for reoperation, as well as percentage of excess weight loss (%EWL) and BMI at 3-month intervals. RESULTS: Fifty-three teenagers aged 13 to 17 years (mean, 15.9 years) underwent LAGB at our institution since September 2001. Of these, 41 were female and 12 were male. The mean preoperative weight was 297 +/- 53 lb and the mean initial BMI was 47.6 +/- 6.7 kg/m2. The %EWL was 37.5 +/- 17.0 at 6 months, 62.7 +/- 27.6 at 1 year, and 48.5 +/- 15.6 at 18 months of follow-up. There were no intraoperative complications. Two patients had band slips that required laparoscopic repositioning, and 2 patients developed a symptomatic hiatal hernia that required laparoscopic repair. All of these procedures were performed as outpatient procedures. A fifth patient developed a wound infection requiring incision and drainage. Other complications included mild hair loss in 5 patients, iron deficiency in 4 patients, nephrolithiasis and cholelithiasis in 1 patient, and gastroesophageal reflux in 1 patient. CONCLUSIONS: Laparoscopic adjustable gastric banding is not only a safe operation for morbidly obese pediatric patients, but also represents an effective treatment strategy with a %EWL of approximately 50% at both 1 year and 18 months of follow-up. Because of the minimal morbidity and complete absence of mortality of the LAGB, it is the optimal surgical option for pediatric patients with morbid obesity