Bernard E. Cohen

A syndrom characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria

A syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria is described in three siblings in a family of a consanguineous marriage. Renal glycosuria and uricosuria were noted in some affected and unaffected members. It is postulated that these two renal tubular reabsorption defects are independent of the ichthyosis syndrome and are transmitted as a dominant defect, whereas the syndrome is inherited as an autosomal recessive disorder.

Glucose-galactose malabsorption in an Oriental-Iraqui Jewish family.

Three offspring of 2 consanguineous marriages in an Iraqui-Babylonian Jewish family developed a chronic, watery, acid diarrhea, with severe hypernatremic dehydration, shortly after birth. Two of the infants died, with no apparent abnormality of the gastrointestinal tract. The third was proved to be suffering from glucose-galactose malabsorption. No glycosuria was found. Gastrointestinal protein loss was demonstrated in 2 of the infants. The results of oral glucose and galactose tolerance tests carried out in the parents of the affected infants were normal. The mode of inheritance is compatible with transmission through an autosomal recessive gene. A follow-up of 1 1/2 years in the surviving patient indicates an improvement in the toleration of glucose and sucrose as the child has grown older.

Chronic active hepatitis with unusual histologic features. Report of a case.

This communication describes a 2-year-old child with chronic active hepatitis. Liver histology primarily showed involvement of the intrahepatic bile ducts accompanied by granulomata, findings which were consistent with the early changes of primary biliary cirrhosis. Steroid therapy resulted in marked clinical and histologic improvement.

Evaluation of Dietary Treatment in Phenylketonuria: A Proposed Methodology

The authors suggest a method of analysis of results in phenylketonuria involving the independent ranking of cases by age of starting and adequacy of dietary control and by IQ followed by a measure of correlation between these rankings. Only cases ascertained by screening newborns or siblings of previously diagnosed PKU cases are used in this type of analysis.