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

Neonatal hypoglycemia with nesidoblastosis 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 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, Its aetiology is unknown, that there may be a genetic component with an autosomal recessive inheritance pattern Is suggested by its familial occurance. We report its occurance in 3 sibs of a Jordanian family. The first is a baby girl FTND, birth weight 4.1 kg., died at the age of 6 days due to severe hypoglycemia, the second is baby boy delivered by cesarean section because of a large fetus, birth weight 5 kg., 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 kg., hypoglycemic investigated and treated by 95% pancreatectomy, well and alive. Our report gives another evidence of Its mode of Inheritance and confirms the importance of early recognition and efficient treatment In preventing irreversable brain damage which is likely to result in survivors with subsequent mental retardation

Agenesis of right hemidiaphragm: report of an unusual case of diaphragmatic hernia with review of the literature

We report an unusual case of a newborn female infant who had complete absence of the right hemidiaphragm associated with right lung hypoplasia and abnormal shape of the liver with herniation of abdominal viscera in the chest. We discuss the clinical presentation and post-mortem findings of this rare condition with a review of the literature

Poor weight gain in prematures, and late metabolic acidosis: experience with bicarbonate therapy

This is a prospective study of 26 prematures, admitted to the Neonatal Intensive Care Unit at Jordan University Hospital, Amman, Jordan, and who failed to gain adequate weight after stabilization of their conditions. All of them had compensated metabolic acidosis as documented by their arterial blood gases. Oral supply of those premature neonates with sodium bicarbonate in a dose of 2-5 mEq/kg/day for an average of 4 weeks resulted in excellent and rapid weight gain [after 3 days of starting therapy] in 22 patients [84.6%]. Only four patients [15.4%] showed delayed response in weight gain [after one week of therapy]. This study indicates that when sodium bicarbonate is given orally in small Multiple doses to prematures with late metabolic acidosis it corrects acidosis and promote weight gain, and it is very safe