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Case Reports
. 1993 May;152(5):402-5.
doi: 10.1007/BF01955897.

A kindred with Griscelli disease: spectrum of neurological involvement

H Hurvitz  1 , R Gillis, S Klaus, A Klar, F Gross-Kieselstein, E Okon
Affiliations
Case Reports

A kindred with Griscelli disease: spectrum of neurological involvement

H Hurvitz et al. Eur J Pediatr. 1993 May.

Abstract

We report four members of a highly consanguineous family with silver-grey pigmentation of hair, two of whom had skin histology compatible with Griscelli disease. Unlike previously reported patients, they did not suffer from recurrent infections. In addition, there was a spectrum of neurological involvement varying from mild cognitive delay with a convulsive disorder in one patient, to a fatal degenerative course in three others. One patient developed a prolonged febrile illness with histological evidence of florid lymphoid hyperplasia.

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