Familial Pellagra-Like Skin Rash with Neurological Manifestations
Arch Dis Child: first published as 10.1136/adc.56.2.146 on 1 February 1981. Downloaded from 146 Freundlich, Statter, and Yatziv Familial pellagra-like skin rash with neurological manifestations E FREUNDLICH, M STATTER, AND S YATZIV Department ofPaediatrics, Government Hospital, Nahariya, Israel, and Paediatric Research Unit and Department ofPaediatrics, Hadassah University Hospital, Jerusalem, Israel development was normal, although the skin rash SUMMARY A 14-year-old boy of Arabic origin was noted several times. On one occasion a skin presented with a pellagra-like rash and neurological biopsy was performed and reported to be compatible manifestations including ataxia, dysarthria, nystag- with pellagra. A striking improvement was again mus, and coma. There was a striking response to oral noticed after nicotinamide administration. nicotinamide. The laboratory findings were not The last admission was at age 14 years in late typical of Hartnup disease: aminoaciduria and November (as were all previous admissions). At indicanuria were absent and there was no evidence this time, he presented with mild confusion, diplopia, of tryptophan malabsorption. Tryptophan loading dysarthria, ataxia, and a pellagroid skin rash. His did not induce tryptophanuria nor did it increase general condition deteriorated during the next few excretion of xanthurenic or kynurenic acids. These days; he became unable to walk or stand, and both findings support the possibility of a block in trypto- horizontal and vertical nystagmus were observed. phan degradation. The family history suggests a He became apathetic and entered into deep coma genetically-determined disorder. 4 days after admission. The electroencephalogram showed a markedly abnormal tracing with short We report a patient with familial pellagra-like skin bursts of high voltage 2 5 per second activity with manifestations and laboratory rash, with neurological superimposed sharp waves, mainly over the posterior copyright.
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