Neonatal hypoglycemia with nesidioblastosis in sibs: an evidence of an autosomal recessive inheritance

Persistent severe hypoglycemia in the neonatal period is a rare condition, and hyperinsulinism is the most common cause. Its diagnosis is of a great importance as it may be exceedingly difficult to control. Nesidioblastosis is a term used to describe the presence of numerous abnormal clusters of insulin secreting cells histopathologically throughout the pancreas. The aetiology is unknown. That there may be a genetic component with an autosomal recessive inheritance pattern is suggested by its familial occurrence.We report its occurence in 3 sibs of a Jordanian family. The first is a baby girl FTND, birth weight 4.1 kgm, died at the age of 6 days due to severe hypoglycemia, the second is a baby boy delivered by cesarean section because of a large fetus, birth weight 5 kgm, died at the age of 31 days with histological evidence of nesidioblastosis, the third is a baby girl delivered at 36/40, birth weight 3.7 kgm, hypoglycemic investigated and treated by 95% pancreatectomy, well and alive. Our report gives more evidence of its mode of inheritance and confirms the importance of early recognition and efficient treatment in preventing irreversible brain damage

Associated developmental anomalies of the anterior end of the neural crest: Hirschprung's disease/Waadrenburg syndrome

Three patients are described in whom Hirschsprung's disease was associated, in varying degree, with deafness, disturbance of facial configuration and deficient pigmentation of the skin and its appendages; expressing developmental defects of the anterior end of the neural crest. The anomalies described are seen, not as separate and fortuitously associated lesions, but rather as different aspects of a single developmental disturbance of the anterior end of the neural crest. In sporadic reports[14-17] [as shown in text] a substantial experience of such patients is recorded, though texts on pediatric surgery rarely quote this