RT Journal Article
SR Electronic
T1 Progressive cerebeilar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10‐year‐old child
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 571
OP 571
DO 10.1212/WNL.27.6.571
VO 27
IS 6
A1 PATRICK M. MACLEOD
A1 STEPHEN WOOD
A1 JAMES E. JAN
A1 DEREK A. APPLEGARTH
A1 CLARISSE L. DOLMAN
YR 1977
UL http://n.neurology.org/content/27/6/571.abstract
AB During the course of investigating a 10-year-old boy because of progressive deterioration of intellectual functioning, ataxia, and hemiplegia, an absence of serum hexosaminidase activity was noted. A skin biopsy examined by electron microscopy showed axonal accumulations of dense osmiophilic deposits. Because of the patient's age at onset and the slowly progressive nature of his illness, we are reporting an atypical juvenile case of Sandhoff disease.