Unusual presentation of protein S deficiency: a case report with a review of the literature

Most patients with protein S deficiency are at risk for thrombotice disease at a relatively young age. However, and to my knowledge there has been no reported cases in neonates. This report describes the occurrence of testicular venous thrombosis in a 7 day old male newborn with hereditary protein S deficiency. Left orchiectomy was done for the gangernous testis because thrombosis, protein S deficiency was also recognized In his mother, uncles and one aunt. All of them had history of thrombotic disease

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