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Journal of Child Neurology
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Sanfilippo Type D Presenting With Acquired Language Disorder but Without Features of Mucopolysaccharidosis

P.T. Ozand, MD, PhD

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

J.N. Thompson, PhD

Laboratory of Medical Genetics Departments of Biochemistry and Pediatrics, University of Alabama at Birmingham, The Medical Center, Birmingham, AL

G.G. Gascon, MD

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

S.B. Sarvepalli, PhD

Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Z. Rahbeeni, MD

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

M.J. Nester, PhD

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

J. Brismar, MD, PhD

Department of Radiology King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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. (J Child Neurol 1994;9:408-411).

Journal of Child Neurology, Vol. 9, No. 4, 408-411 (1994)
DOI: 10.1177/088307389400900415
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This article has been cited by other articles:


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