A 7-year old white-male boy with progressive neurological deterioration.
A 9-month-old boy presented with rapid deterioration of psychomotor development. He developed seizures at 2 months, and shortly thereafter lost motor skills and developed feeding difficulties, increased startle response, red maculas, and decreased vision. His measurements, including head circumference, were greater than the 95th centile. No organomegaly was found. Serum determination of the hemoxsaminidases confirmed the diagnosis of Sandhoff disease.
Barness
L A
LA
Department of Pediatrics, University of Wisconsin Medical School, Madison 53792.
Henry
K
K
Kling
P
P
Laxova
R
R
Kaback
M
M
Gilbert-Barness
E
E
D001921:Brain / Q000473:pathology; D002648:Child; D006801:Humans; D007223:Infant; D011596:Psychomotor Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology