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Ultrastructural and Enzymatic Study of a Case of Variant 0 Form

Elie-Jean Raynaud, MD; Raymond Escourolle, MD; Nicole Baumann, MD; Jean-Claude Turpin, MD; Gisèle Dubois, CNRS; George Malpuech, MD; Roger Lagarde, MD

Arch Neurol. 1975;32(12):834-838.

Abstract
• A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 31/2-year-old girl with progressive mental and physical deterioration had decreased activities of arylsulfatases A and B in the leukocytes, shown by acrylamide gel electrophoresis. Under the electron microscope, biopsy specimens of the brain and the peripheral nerve showed lamellar structures with socalled zebra bodies in the cytoplasmic processes of glial cells, granulomembranous inclusions with fingerprint configurations in neurons, and myelinlike material in Schwann cells. Results from our study suggest an intricate nature of this dysmetabolic disorder, which shows ultrastructural changes usually seen in classic MLD, a deficiency of arylsulfatase A only, concomitant with those seen in mucopolysaccharidoses such as Hurler and Sanfilippo syndromes.

Author Affiliations
From the Department of Pediatrics, Clermont-Ferrand Hospital (Drs Raynaud, Malpuech, and Lagarde) and the departments of neuropathology and neurochemistry (INSERM U.134), Salpêtrière Hospital, Paris (Drs Escourolle, Baumann, and Turpin and Ms Dubois).

Footnotes
Accepted for publication Dec 10, 1974.

Reprint requests to the Department of Pediatrics, Clermont-Ferrand Hospital, 63000, Clermont-Ferrand, France (Dr Raynaud).

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