Howard B. Ginsburg

Fundoplication and gastrostomy in familial dysautonomia

Fundoplication with gastrostomy has become a frequent treatment for patients with familial dysautonomia, so we evaluated the use of both procedures in 65 patients. Although patients differed widely in presenting signs and age, from 5 weeks to 40 years, gastroesophageal reflux was documented in 95% of patients by cineradiography or pH monitoring. Panendoscopy was a useful adjunct. Preoperative symptoms of gastroesophageal reflux included vomiting, respiratory infections, and exaggerated autonomic dysfunction. Severe oropharyngeal incoordination frequently coexisted and resulted in misdirected swallows with aspiration, dependence on gavage feedings, or poor weight gain and dehydration. Follow-up after surgical correction ranged from 3 months to 11 years; 55 patients (85%) were available for a 1-year postoperative assessment. We had no instances of surgical death. The long-term mortality rate was 14%, primarily related to severe preexisting respiratory disease. Beyond the first postoperative year, 30 patients had pneumonia attributed to continued aspiration, exacerbation of preexisting lung disease, or recurrence of gastroesophageal reflux. Of 11 patients who vomited postoperatively, six had recurrence of reflux. Recurrence of gastroesophageal reflux was documented in eight patients (12%), and we revised the fundoplication in three patients. The number of patients with cyclic crises was reduced from 18 to 7; retching replaced overt vomiting in all but two of these seven patients, neither of whom had recurrence of reflux. Because oropharyngeal incoordination was prominent, concomitant use of gastrostomy and an antireflux procedure was especially effective in the treatment of younger patients with familial dysautonomia, before the development of severe respiratory disease. Despite the development of severe morning nausea in 15 patients, the combination procedure resulted in significantly improved nutritional status, decreased vomiting, and decreased respiratory problems. Appropriate use of gastrostomy feedings also contributed to success of the operation. The generally good outcome of fundoplication with gastrostomy confirms the benefit of this procedure in familial dysautonomia.

Managing radiation exposure in children—reexamining the role of ultrasound in the diagnosis of appendicitis

PURPOSE To assess the efficacy and accuracy of ultrasonography (US) and selective computed tomography (CT) in the diagnosis of acute appendicitis in children. METHODS A retrospective review of all ultrasound evaluations for appendicitis from July 1, 2003, to June 30, 2010, was conducted at two urban pediatric centers. Beginning in 2003, a multi-disciplinary diagnostic protocol was implemented to reduce radiation exposure employing US as the initial imaging modality followed by CT for non-diagnostic US studies in patients with an equivocal clinical presentation. The imaging, operative findings, and pathology of 802 patients (365 females, 437 males, age less than 18 years) with suspected appendicitis were reviewed. The sensitivity, specificity, predictive value, and negative appendectomy rate of the protocol were analyzed. A telephone survey was conducted of patients discharged without a diagnosis of appendicitis to evaluate the missed appendicitis rate. RESULTS Of the 601 pediatric appendectomies performed, a total of 275 (46%) were diagnosed by protocol. The selective protocol had a sensitivity of 94.2%, specificity of 97.5%, positive predictive value of 95.2%, and negative predictive value of 97.0%. The negative appendectomy rate was 1.82%, and the missed appendicitis rate was 0%. No patient discharged after only ultrasound evaluation without undergoing surgery reported missed appendicitis on the survey (41.7% response rate). Protocol use increased from 6.7% to 88.3%. US was the sole imaging modality in 630 of all 802 patients (78.6%). CONCLUSIONS US followed by selective CT for the diagnosis of acute appendicitis is useful and accurate. This has important implications in the reduction of childhood radiation exposure.

Fetal midgut volvulus presenting at term

This report describes a rare case of intrauterine midgut volvulus that presented at term. The pregnancy was uncomplicated. There were no signs of fetal distress or polyhydramnios, and the child was delivered vaginally. This patient had the unusual presentation in that at the time of delivery, the patient was distended and acidotic. She immediately required an extensive resection of gangrenous small bowel. Comparing this case to the 10 other cases of fetal intestinal volvulus that have been reported, it seems this child was particularly fortunate that the volvulus occurred at a point in gestation when she was mature enough to tolerate birth and surgery. This case is also the first demonstration that volvulus can present with abdominal distension in the immediate newborn period.

Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature.

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.

Paraganglioma (pheochromocytoma) of the posterior mediastinum: a case report and review of the literature

Pheochromocytoma is an uncommon tumor in the pediatric population. Paraganglioma, or extra-adrenal pheochromocytoma, accounts for only a small fraction of pediatric pheochromocytomas, with most of these tumors presenting within the abdominal cavity. Herein the authors report the extremely rare case of a biochemically active paraganglioma presenting as a posterior mediastinal mass in an 8-year-old boy.

Adenomyoma Arising in a Meckel Diverticulum: Case Report and Review of the Literature

We report a case of adenomyoma of the small intestine arising in a Meckel diverticulum. The patient was a 22-month-old boy who presented with signs and symptoms of intussusception. At surgery, a Meckel diverticulum was found and removed. On histologic examination, a tumor consisting of dilated cystic glands and smooth muscle bundles was identified. A diagnosis of adenomyoma arising in a Meckel diverticulum was made. A review of the literature showed that only six other pediatric cases of adenomyoma of the small intestine have been reported. The presence of an adenomyoma in a young patient within a Meckel diverticulum favors the view that adenomyomas are a variant of pancreatic heterotopia.

Management and Outcomes for Children with Acute Appendicitis Differ by Hospital Type: Areas for Improvement at Public Hospitals

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.

More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.

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.

Factors associated with failure of nonoperative treatment of complicated appendicitis in children

UNLABELLED Appendicitis remains the most common cause for emergency abdominal surgery in children. Immediate appendectomy in complicated, perforated appendicitis can be hazardous and nonoperative therapy has been gaining use as an initial therapy in children. Previous studies have reported failure rates in nonoperative therapy in such cases ranging from 10% to 41%. Factors leading to treatment failures have been studied with various and disparate results. We reviewed our institutional experience in treated complicated appendicitis, with focus on those initially managed nonoperatively. METHODS Records of all children admitted with the diagnosis of perforated appendicitis to NYU Langone Medical Center and Bellevue Hospital Center from January 1, 2003 to December 31, 2013 were reviewed. The diagnosis was made with ultrasound and/or computed tomography scan. Those with abscesses amenable to drainage underwent aspiration and drain placement by an interventional radiologist. Broad spectrum intravenous (IV) antibiotics were given until the patient became afebrile, pain free and tolerating a regular diet. Oral antibiotics were continued for an additional week and interval appendectomy was done eight weeks later. The primary outcome measure was treatment response with failure defined as those who did not improve or required readmission for additional IV antibiotics and/or early appendectomy. Multiple patient and treatment related variables, including those previously reported as predicting failure in nonoperative therapy, were studied. Continuous variables were reported as means ± standard error and compared using 2-tailed unpaired t tests; nonparametric variables were analyzed by Mann-Whitney U tests. Categorical variables were reported as medians ± interquartile ranges and compared using Chi-square testing. Statistical significance was accepted for p<.05. RESULTS Sixty-four patients were identified as undergoing initial nonoperative therapy. Fifty-two (81%) were categorized as treatment successes being treated nonoperatively and 12 (19%) were failures. Variables showing no significance in predicting treatment failures included duration of symptoms, presence of appendicolith, presence of phlegmon, presence of abscess, initial white blood cell count, and SIRS (Systemic Inflammatory Response Syndrome) positive. The variables that predicted failure of nonoperative therapy vs. successes were presence of bandemia (75% vs. 40%, p=0.052) and small bowel obstruction on imaging (42% vs. 15%, p=0.052) and presence of bandemia ≥15% which was highly predictive of failure (67% vs. 4%, p<0.01). CONCLUSIONS Predicting which patients with complicated perforated appendicitis will respond well to nonoperative therapy may allow us to more effectively treat patients with complicated perforated appendicitis. In our study the presence of small bowel obstruction and bandemia, especially ≥15% correlated with treatment failure; this suggests that these select patients may need a modified treatment strategy.

Complicated peptic ulcer disease in three patients with familial dysautonomia.

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.