Wolman's disease: The King Faisal Specialist Hospital and Research Centre experience.

BACKGROUND: Wolman's disease is a rare autosomal recessive lysosomal storage disease. A recent review indicates that approximately 50 patients have been reported in the world. Reports of patients from the Arabian peninsula are rare due to lack of awareness among pediatricians. PATIENTS AND METHODS: We retrospectively reviewed the clinical, radiological, biochemical and histopathological findings of four Saudi patients diagnosed with Wolman's disease at King Faisal Specialist Hospital and Research Centre. The diagnosis was confirmed by deficient acid lipase activity in the leukocytes and fibroblasts, which was measured using 4-methylumbelliferyl palmitate. RESULTS: All patients were failing to thrive with progressive hepatosplenomegaly. Abdominal x-ray revealed calcifications which were confirmed on abdominal CT scan. Peripheral blood film showed vacuolated lymphocytes and the bone marrow aspiration showed foamy histiocytes. Liver biopsy in one patient showed marked steatosis and elliptical empty clefs predominantly in the Kupffer cells, indicating cholesterol storage in the reticulo-endothelial cells. The acid lipase activity was less than 6% in all patients. CONCLUSION: In all suspected cases of Wolman's disease, a plain abdominal x-ray should be obtained to check for the typical pattern of adrenal calcification characteristic of the disease, especially in any young infant with failure to thrive and progressive hepatosplenomegaly.

Idiopathic focal foveolar hyperplasia in infants.

Idiopathic focal foveolar hyperplasia (FFH) is a rare cause of gastric outlet obstruction in infants. We present two cases, including the first reported association with infantile hypertrophic pyloric stenosis. The diagnostic ultrasound appearance of FFH is described. Optimal treatment is surgical excision of the involved mucosa with pyloroplasty or pyloromyotomy.

Congenital urethral obstruction: Cobb's collar or prolapsed congenital obstructive posterior urethral membrane (COPUM).

OBJECTIVE: To determine whether there are two distinct types of congenital obstruction of the proximal urethra. PATIENTS AND METHODS: Three boys with a congenital bulbar urethral narrowing (Cobb's collar) were examined. Recent papers on congenital obstructive posterior urethral membrane (COPUM) were reviewed. RESULTS: The more proximal lesion is a membranous obstruction which is able to prolapse as far as the bulbar urethra, but has paramedian folds that attach along the posterior wall of the urethra to the verumontanum, and is due to persistence of an embryological attachment between the distal verumontanum and the anterior wall of the posterior urethra. The more distal narrowing is not always obstructive and is primarily a bulbar urethral membrane, is independent of the verumontanum and external sphincter, and may represent a persistence of part of the urogenital membrane. CONCLUSIONS: There are two distinct types of congenital obstruction of the proximal urethra, with the association to the verumontanum being the distinguishing feature.

The common bilio-pancreatic channel syndrome in childhood.

An abnormally long common bilio-pancreatic channel has been found in association with choledochal cysts and biliary strictures in childhood. It may also present with recurrent abdominal pain, vomiting, hyperamylasaemia and jaundice. This has been termed the common channel syndrome (CCS). Two cases with the CCS presenting early in childhood are reported together with a review of the literature. Open sphincteroplasty was performed in both cases with a satisfactory outcome.

Ultrasound diagnosis of nephrocalcinosis in preterm infants.

The incidence of nephrocalcinosis in very low birthweight (less than 1500 g) premature infants was assessed by ultrasound scan and analysis of urine. Three of 36 infants had nephrocalcinosis. All had been receiving long term frusemide for bronchopulmonary dysplasia with simultaneous fluid restriction. Urinary investigations showed no consistent findings in babies with nephrocalcinosis.