Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis.
A 7-year-old girl presented with a language disorder reminiscent of verbal auditory agnosia. Later, she proved to have defective N-acetylglucosamine-6-sulfate sulfatase, the enzyme deficient in Sanfilippo D syndrome. She did not show clinical features of mucopolysaccharidosis. The language disorder had a fluctuating course, which eventually evolved into a progressive dementing encephalopathy.
Ozand
P T
PT
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Thompson
J N
JN
Gascon
G G
GG
Sarvepalli
S B
SB
Rahbeeni
Z
Z
Nester
M J
MJ
Brismar
J
J
D000377:Agnosia / Q000175:diagnosis* / Q000235:genetics; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003704:Dementia / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007805:Language Development Disorders / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics; D013429:Sulfatases / Q000172:deficiency / Q000235:genetics
D013429:Sulfatases; C018719:N-acetylglucosamine-6-sulfatase