SANFILIPPO TYPE-D PRESENTING WITH ACQUIRED LANGUAGE DISORDER BUT WITHOUT FEATURES OF MUCOPOLYSACCHARIDOSIS

Authors
OZAND PT THOMPSON JN GASCON GG SARVEPALLI SB RAHBEENI Z NESTER MJ BRISMAR J
Citation
Pt. Ozand et al., SANFILIPPO TYPE-D PRESENTING WITH ACQUIRED LANGUAGE DISORDER BUT WITHOUT FEATURES OF MUCOPOLYSACCHARIDOSIS, Journal of child neurology, 9(4), 1994, pp. 408-411
Citations number
16
Categorie Soggetti
Neurosciences,Pediatrics
Journal title
Journal of child neurology → ACNP
ISSN journal
08830738
Volume
9
Issue
4
Year of publication
1994
Pages
408 - 411
Database
ISI
SICI code
0883-0738(1994)9:4<408:STPWAL>2.0.ZU;2-E
Abstract
A 7-year-old girl presented with a language disorder reminiscent of ve rbal auditory agnosia. Later, she proved to have defective N-acetylglu cosamine-6-sulfate sulfatase, the enzyme deficient in Sanfilippo D syn drome. She did not show clinical features of mucopolysaccharidosis. Th e language disorder had a fluctuating course, which eventually evolved into a progressive dementing encephalopathy. .