title: A kindred with Griscelli disease: spectrum of neurological involvement.
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.
authors.affiliation: Department of Paediatrics, Bikur Cholim General Hospital, Jerusalem, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Hurvitz
authors.forename: R
authors.initials: R
authors.lastname: Gillis
authors.forename: S
authors.initials: S
authors.lastname: Klaus
authors.forename: A
authors.initials: A
authors.lastname: Klar
authors.forename: F
authors.initials: F
authors.lastname: Gross-Kieselstein
authors.forename: E
authors.initials: E
authors.lastname: Okon
mesh_terms: D002675:Child, Preschool; D006201:Hair Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012640:Seizures / Q000209:etiology*