TY - JOUR
T1 - Juvenile Niemann-Pick Disease With Vertical Supranuclear Ophthalmoplegia
T2 - Two Case Reports and Review of the Literature
AU - Breen, Lenore
AU - Morris, Harold H.
AU - Alperin, Jack B.
AU - Schochet, Sydney S.
PY - 1981/6
Y1 - 1981/6
N2 - Examination of two siblings who had histories of progressive decline in speech, intelligence, and coordination disclosed vertical supranuclear ophthalmoplegia, hepatosplenomegaly, and signs of diffuse CNS dysfunction. Niemann-Pick “foam cells” were found in the bone marrow of both patients. The features of these cases correlate in appearance and clinical findings with those of 21 other previously reported cases, which are reviewed in this article. Knowledge of the clinical manifestations of this particular variety of Niemann-Pick disease should aid in its earlier diagnosis.
AB - Examination of two siblings who had histories of progressive decline in speech, intelligence, and coordination disclosed vertical supranuclear ophthalmoplegia, hepatosplenomegaly, and signs of diffuse CNS dysfunction. Niemann-Pick “foam cells” were found in the bone marrow of both patients. The features of these cases correlate in appearance and clinical findings with those of 21 other previously reported cases, which are reviewed in this article. Knowledge of the clinical manifestations of this particular variety of Niemann-Pick disease should aid in its earlier diagnosis.
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U2 - 10.1001/archneur.1981.00510060090021
DO - 10.1001/archneur.1981.00510060090021
M3 - Article
C2 - 7236073
AN - SCOPUS:0019490379
SN - 0003-9942
VL - 38
SP - 388
EP - 390
JO - Archives of Neurology
JF - Archives of Neurology
IS - 6
ER -