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Occurrence in a Childhood Case of Acid Maltase Deficiency

Dikran S. Horoupian, MD, FRCP(C); K. Ratnaker Kini, MD; Lester Weiss, MD, PhD; Ronald Follmer, MD

Arch Neurol. 1978;35(3):175-178.

Abstract
• A 12-year-old boy being examined for vague chest pains was found to be suffering from acid maltase deficiency. Unlike previously reported cases in which vacuolization was most commonly noted in type I fibers, type II fibers were selectively involved in this patient and were atrophic. Type I fibers were spared, or occasionally contained one or more small globular structures consisting of large, complex aggregates of lysosomal profiles.

Author Affiliations
From the Division of Neuropathology, Department of Pediatrics, and Division of Neurology, Henry Ford Hospital, Detroit. Dr Horoupian is now with the Department of Pathology (Neuropathology), Albert Einstein College of Medicine, Bronx, NY.

Footnotes
Accepted for publication July 25, 1977.

Reprint requests to Department of Pathology (Neuropathology), Albert Einstein College of Medicine, 1300 Morris Park Ave, Bronx, NY 10461 (Dr Horoupian).

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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Childhood Acid Maltase Deficiency: A Clinical, Biochemical, and Morphologic Study of Three Patients
Matsuishi et al.
Arch Neurol 1984;41:47-52.
ABSTRACT