Difficulties in making the diagnosis of Hirschsprung disease in early infancy.

This study highlights the less common presentations of Hirschsprung disease (HD) and HD-associated enterocolitis (HAE) in neonates and infants. We present three infants whose diagnosis was delayed because of atypical presenting features, especially with failure to gain weight, decreased appetite, episodes of diarrhoea and vomiting and hypoalbuminaemia. The reported incidence of HAE ranges from 0 to 16.2%. To avoid complications of life-threatening HAE, primary care physicians require a high index of suspicion of the more unusual presentations of HD in neonates and infants.

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

Dihydrolipoamide dehydrogenase (E3) deficiency with a clinical phenotype and genotype (Gly194Cys homozygous) previously identified only in Ashkenazi Jewish patients, was diagnosed in two Palestinian Arab siblings and two unrelated Ashkenazi Jewish patients. While three of the four patients died in childhood without specific treatment, the surviving patient at age 18 years may have benefited from long-term daily supplementation with a cocktail of riboflavin, biotin, coenzyme Q and carnitine.

Successful treatment of antiepileptic drug hypersensitivity syndrome with intravenous immune globulin.

Intravenous immune globulin (IVIG) has proved beneficial for severe immunologically related cutaneous adverse reactions. We report a child with severe antiepileptic drug hypersensitivity syndrome who was successfully treated with IVIG. IVIG should be considered in the pharmacologic armamentarium of severe antiepileptic drug hypersensitivity syndrome. antiepileptic drugs, hypersensitivity, immune globulin.

Continuous glucose monitoring in children with glycogen storage disease type I.

Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the magnitude and significance of hypoglycaemia in GSD I and to evaluate the efficacy of its dietary treatment. Four children with GSD I were studied over a 72-h period. Results indicated that the values recorded with continuous subcutaneous glucose monitoring were highly correlated with paired blood glucose values measured by glucometer. Significant periods of asymptomatic hypoglycaemia were noted, especially during night-time. The study suggests that repeated continuous subcutaneous glucose monitoring may serve as a useful tool for the assessment of the long-term management of GSD I patients.

[Whole bowel irrigation in infants for acute iron poisoning].

Acute iron poisoning is a major cause of death due to poisoning in children, so knowledge of its presentation and appropriate management are necessary. Whole bowel irrigation, used routinely in preparation for elective surgery and colonoscopy, are safe and effective procedures. In recent years whole bowel irrigation has been used several times in various toxic situations, including acute iron poisoning. We report our successful experience treating acute iron poisoning in a 1-year-old girl using whole bowel irrigation and deferoxamine. The safety and theoretical effectiveness of the procedure, although not proven in controlled clinical studies, suggests the use of whole bowel irrigation as treatment for acute iron poisoning.

Meyer dysplasia in the differential diagnosis of hip disease in young children.

OBJECTIVES: To describe a rare developmental disorder of the femoral capital epiphysis in infants and children that is often misdiagnosed and to suggest an evaluation protocol to differentiate it from other hip problems. DESIGN: Case series. SETTING: Tertiary care center. SUBJECTS: Five consecutive patients referred for evaluation of acute onset of limping between January 1990 and December 1997. INTERVENTION: All clinical and imaging data were collected. RESULTS: Two of the 5 patients were initially diagnosed as having osteomyelitis and 3 as having Perthes disease. The diagnosis of Meyer dysplasia was confirmed by plain film of the pelvis, a negative bone scan, or normal bone marrow findings on magnetic resonance imaging. The limping resolved without treatment in all patients within 1 to 3 weeks. CONCLUSIONS: Meyer dysplasia is a benign condition that should be included in the differential diagnosis of hip disease in infants and children. Awareness of this condition may prevent unnecessary hospitalization and treatment.

Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome).

We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder.

Congenital intractable diarrhea of infancy in Iraqi Jews.

We report on five patients who presented with intractable diarrhea starting during the first days of life. The patients belonged to four families of Iraqi Jewish origin. Autosomal recessive inheritance is suggested by parental consanguinity in three families and recurrence in another sib in one family. The patients were all born after uneventful pregnancy and labor, with birth weight in the normal range. There were no dysmorphic features. Three patients were breast fed. Diarrhea started between the first and eighth day of life. Diarrhea was of the secretory type. No pathogen was cultured from the stool. Jejunal biopsies performed on all patients ranged from normal to severe partial villous atrophy. The patients received different drug regimens with no beneficial effect and all are dependent on TPN. These findings and the common ethnic origin of the patients suggest that these patients have the same syndrome of congenital intractable diarrhea. No similar cases are known in other ethnic groups in Israel, suggesting a possibility of high gene frequency among the Jews of Iraqi origin.

Penicillin-resistant pneumococcal meningitis in Israel.

Penicillin-resistant Streptococcus pneumoniae (PRP) is of worldwide concern. Treatment failures and fatalities of meningitis caused by PRP have been reported in other locations but not yet in Israel. We describe an 11-month-old infant with meningitis caused by PRP who failed to respond to initial treatment with cefotaxime. Vancomycin treatment caused a prompt cure. The minimal inhibitory concentrations of the isolate to penicillin, cefuroxime and cefotaxime were 1.0, 4.0 and 1.0 micrograms/ml, respectively. New guidelines for the treatment of meningitis in Israel are suggested.

Acute haemorrhagic oedema of infancy, a benign variant of leucocytoclastic vasculitis.

Acute haemorrhagic oedema of infancy (AHEI) is an acute leucocytoclastic vasculitis affecting infants and young children. It has a striking appearance of large purpuric skin lesions in a target-like pattern and marked oedema mainly on the face, auricles and extremities. In some patients there is mucosal involvement as well. We present five patients with skin lesions characteristic of AHEI with no visceral involvement and complete resolution within 7-14 days. In three of our five cases, histopathological examination was performed, and demonstrated typical leucocytoclastic vasculitis. Although sometimes confused with Schönlein-Henoch purpura, we suggest that AHEI should be regarded as a separate entity. Clinical criteria for diagnosis are proposed.

Cryptococcal meningitis in a child with hyperimmunoglobulin E syndrome.

A 13-year-old boy with hyperimmunoglobulin E (hyper-IgE) syndrome presented with headache, blurred vision, photophobia and bilateral papilledema due to cryptococcal meningitis. Treatment with amphotericin B, and S-fluorocytosine for several weeks and repeated lumbar punctures did not reduce the intracranial pressure, and a myeloperitoneal shunt was performed. The child was maintained on fluconazole for an additional six months. Patients with hyper-IgE syndrome are at increased risk of opportunistic fungal infections such as cryptococcal meningitis.

Risk of infection during adrenocorticotropic hormone treatment in infants with infantile spasms.

We reviewed the clinical features and laboratory findings of 27 infants with infantile spasms treated with adrenocorticotropic hormone or prednisone during febrile episodes in order to evaluate the incidence of bacteremia, the risk of serious infection, determination of whether serious infections can be identified at presentation and the outcome of febrile episodes. There were 75 febrile episodes including 4 episodes of identified bacteremia (5.3%). Three children who were treated with adrenocorticotropic hormone dosage larger than recommended died. Leukocytosis and a differential count with many immature granulocytes predicted bacteremia in this population. Chest radiography was useful in identifying the cause of fever. The pathogens isolated were similar to those found in this age range. We conclude that the frequency of bacteremia in our patient population is similar to that observed in infants of the same age; however, the outcome is frequently fatal. In addition this increased mortality may be associated with the use of a larger dosage of adrenocorticotropic hormone than recommended.

A randomized, double-blind study comparing cefixime and trimethoprim-sulfamethoxazole in the treatment of childhood shigellosis.

We compared the clinical and bacteriologic response of 5-day treatment with cefixime, 8 mg/kg per day, with the response to trimethoprim-sulfamethoxazole (TMP-SMX), 10-50 mg/kg per day, the currently recommended therapy. Of the assessable children with acute, culture-proven shigellosis, 38 received cefixime and 39 received TMP-SMX. Pretreatment data on the two study groups were similar. In the first group, all isolates were susceptible to cefixime; in the TMP-SMX group, 32 isolates were resistant and 7 were susceptible to TMP-SMX. Clinical response (day 5) showed cure, improvement, and failure in 89%, 8%, and 3%, respectively, of the cefixime group, and in 25%, 44%, and 31%, respectively, of the TMP-SMX-resistant group (p < 0.001). Bacteriologic cure (day 3) occurred in 78% and 23% of the cefixime and TMP-SMX-resistant groups, respectively (p < 0.001). Clinical or bacteriologic relapse (day 12) was infrequent in both groups. The response to treatment of the cefixime and the TMP-SMX-susceptible groups was similar. No significant side effects were noted. We conclude that cefixime is superior to TMP-SMX in the treatment of suspected shigellosis in areas with a high rate of resistance to TMP-SMX.

Bioequivalence of quinidine in two sustained-release preparations.

The bioequivalence of two sustained-release preparations of quinidine bisulphate from Teva (Israel) and from Astra (Sweden) was assessed in an acute, single-dose randomized cross-over study in seven healthy subjects. There was no significant difference in time to peak, peak serum concentration, area under the concentration time curve from 0 to infinity, and the fraction absorbed between quinidine bisulphate 500 mg from Teva and from Astra. In addition, quinidine bisulphate 250 mg from Teva was compared with the short-acting quinidine sulphate 200 mg. The quinidine bisulphate from Teva had a significantly P less than 0.025) decreased peak serum concentration and an increased time to peak compared with the short-acting quinidine sulphate, although these two drugs are similar for the area under the curve from 0 to infinity. Our pharmaceutical records show that 85% of outpatients receiving quinidine are given the sustained-release quinidine bisulphate. However, only 36% of the outpatients prescribed sustained-release quinidine bisulphate are appropriately prescribed for twice-daily treatment. Thus the quinidine bisulphate from Teva is a sustained-release preparation with bioequivalence to the reference sustained-release preparation and can be administered twice daily.

In-flight esophageal variceal bleeding en route for liver transplantation: a case report and review of the literature.

Esophageal variceal bleeding owing to portal hypertension is a potential threat in pediatric patients awaiting liver transplantation. We report a case of a three-year-old boy with severe congenital hepatic fibrosis, Caroli's disease, and portal hypertension who developed a life-threatening variceal hemorrhage for the first time in his life during commercial air transport to a liver transplantation center. Factors precipitating variceal bleeding are discussed, particularly those resulting from changes in altitude. It is recommended that prophylactic treatment for variceal bleeding be at least considered in children awaiting liver transplantation prior to prolonged air transportation. Because of differences in capabilities of treatment providers in various locales, and because there are as yet no conclusive data, the treatment of choice must be decided on an individual basis. Equipment for treating in-flight hemorrhage should be available.

Fructose-1,6-diphosphatase deficiency in Israel.

The clinical and biochemical data on nine patients belonging to six families with fructose-1,6-diphosphatase deficiency are reported. Two of the six families were Jewish, three were Moslem Arabs and one was of Druze origin. All patients had had neonatal hypoglycemia, lactic acidosis and an abnormal fructose or glycerol loading test. At a later age, instances of hypoglycemia occurred in patients both with and without preceding illness. Hypoglycemic attacks were associated with severe hyperuricemia and metabolic acidosis. Therapeutic measures included a restriction in fructose intake and avoidance of prolonged fasting, particularly during febrile episodes.

Subtotal gastrectomy in infancy for perforating necrotizing gastritis.

Necrotizing gastritis is a rare pathology causing a high rate of morbidity and mortality in the infants. A 4-week-old baby, with right hypoplastic kidney and ectopic ureter, was admitted because of profound septic shock and "coffee ground" vomitus. Aggressive treatment was started and hemodynamic stabilization was achieved. On the fourth admission day, ascites was noted and on the eighth day in a plain abdominal x-ray, free air was shown. At urgent explorative laparotomy, double posterior gastric wall perforations with extensive gastric wall necrosis were found, which required subtotal gastrectomy. The etiology and pathophysiology of this rare process are discussed with an emphasis on the difficulty in diagnosis of posterior gastric perforation into the lesser sac.