Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis

P T Ozand; J N Thompson; G G Gascon; S B Sarvepalli; Z Rahbeeni; M J Nester; J Brismar

doi:10.1177/088307389400900415

Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis

J Child Neurol. 1994 Oct;9(4):408-11. doi: 10.1177/088307389400900415.

Authors

P T Ozand¹, J N Thompson, G G Gascon, S B Sarvepalli, Z Rahbeeni, M J Nester, J Brismar

Affiliation

¹ Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

PMID: 7822734
DOI: 10.1177/088307389400900415

Abstract

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.

Publication types

Case Reports

MeSH terms

Agnosia / diagnosis*
Agnosia / genetics
Brain / pathology
Brain Diseases, Metabolic / diagnosis*
Brain Diseases, Metabolic / genetics
Child
Child, Preschool
Dementia / diagnosis
Dementia / genetics
Female
Follow-Up Studies
Humans
Language Development Disorders / diagnosis*
Language Development Disorders / genetics
Magnetic Resonance Imaging
Mucopolysaccharidosis III / diagnosis*
Mucopolysaccharidosis III / genetics
Sulfatases / deficiency
Sulfatases / genetics

Substances

Sulfatases
N-acetylglucosamine-6-sulfatase