Pellagra-like syndrome.
Incidence
This is a very rare condition that has been reported in the Middle East and Northern Africa. It is a familiar disorder probably autosomal recessive.
Clinical Characteristics
Children tends to have a Pellagra-like rash with neurological manifestation. In late infancy, these children develop a red scaly rash over the face, upper chest, hands and legs. During childhood, these Pellagra-like skin rash recurs several times. In early adolescence, the rash was associated with confusion, diplopia, dysarthria and ataxia. Laboratory findings exclude Hartnup disease, that is that aminoaciduria and indicanuria were absent and there is no evidence of tryptophan malabsorption. It seems to be a genetic determined block in tryptophan degradation. In the Northern African family, the symptoms of Pellagra-like skin rash started in the first eight weeks of life with signs of cerebellar ataxia and developmental retardation. Cataracts developed early. All ten children affected died before 2 ½ years. In the Middle East family, all symptoms improved with nicotinamide therapy.
Precipitants
Unknown.
Provocation Tests
no
Diagnostic Procedures
Clinical diagnosis. Lab work is normal.