Microvillus inclusion disease: a subtotal enterectomy as a bridge to transplantation.

Background: Microvillus inclusion disease (MVID) is a known congenital cause of intractable diarrhea resulting in permanent intestinal failure. There is need for a lifelong total parenteral nutrition (TPN) from diagnosis and the prognosis is poor. Most patients die by the second decade of life as a result of complications of parenteral alimentation including liver failure or sepsis.

Two novel deletions in hypotonia-cystinuria syndrome.

Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in childhood, growth hormone deficiency, and variable cognitive problems. Only 14 families with 6 different deletions have been reported.

Right diaphragmatic eventration associated with intralobar pulmonary sequestration: a case report.

A case of right diaphragmatic eventration, associated with a lung sequestration, in a 7-month-old infant is presented. Failure to thrive was the initial symptom. X-ray of the chest, made because of mild respiratory distress, revealed an inhomogeneous opacification of the right lower hemithorax, suggesting a diaphragmatic hernia.