TY - JOUR
T1 - A kindred with Griscelli disease
T2 - Spectrum of neurological involvement
AU - Hurvitz, H.
AU - Gillis, R.
AU - Klaus, S.
AU - Klar, A.
AU - Gross-Kieselstein, F.
AU - Okon, E.
PY - 1993/5
Y1 - 1993/5
N2 - 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.
AB - 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.
KW - Cerebral involvement
KW - Griscelli
KW - Lymphoid hyperplasia
KW - Silver hair
UR - http://www.scopus.com/inward/record.url?scp=0027161476&partnerID=8YFLogxK
U2 - 10.1007/BF01955897
DO - 10.1007/BF01955897
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 8319705
AN - SCOPUS:0027161476
SN - 0340-6199
VL - 152
SP - 402
EP - 405
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - 5
ER -