PURPOSE Mutations in the PRRT2 gene have been recently described as a cause of paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome and, less often, infantile convulsions. We have analysed the frequency of PRRT2 mutations in families with benign familial infantile convulsions without paroxysmal kinesigenic dyskinesia. METHODS AND RESULTS Direct sequencing of ...

In 2009, vigabatrin became the first FDA approved medication for the treatment of infantile spasms in the United States. There are few well-designed prospective studies comparing the drug to placebo or other modalities used in the treatment of infantile spasms. The available data have demonstrated that vigabatrin is efficacious in the treatment of infantile spasms regardless of underlying etiol...

Jaundice and bilirubin levels varied widely in 85 children with favism. Low bilirubin levels (less than 2 mg/100 ml) with clinically undetectable jaundice were seen in 34 (40%), mild jaundice in 32 (38%), moderate in 16 (19%), and severe (greater than 8 mg/100 ml) in 3 (4%). Bilirubin levels were unrelated to the severity of anaemia or to reticulocytosis. The absence of bilirubinaemia and jaund...

iatrogenic Jaundice "This is largely synonymous with drug jaundice. Drugs can produce jaundice in two ^ays. Firstly they can produce haemolysis and so overload a normal liver. Secondly they may produce actual liver disease, either by obstructing the intrahepatic biliary Canaliculi or by injuring the liver cells. In the second group obstructive jaundice is Produced by drugs such as methyl testos...

West syndrome (infantile spasms) is an epileptic encephalopathy that includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. More than 25 inborn errors of metabolism have been considered etiologic or predisposing factors for infantile spasms. This is a review of the literature on reported cases of children diagnosed with a metabolic disease w...