All issues > Volume 27(10); 1984

Case Report

J Korean Pediatr Soc. 1984;27(10):1033-1039. Published online October 31, 1984.

Two Cases of Late Infantile Metachromatic Leukodystrophy.

Mee Ran Roh¹, Kyeong Wha Lee¹, Dong Whan Lee¹, Sang Jhoo Lee¹, Dong Wha Lee², Duk Yong Kang², Tae Jung Kwon³, Jung Sook Kim³

¹Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul Korea
²Department of Clinical Pathology, College of Medicine, Soon Chun Hyang University, Seoul, Korea
³Department of Electron Microscopy, College of Medicine, Yonsei University

Abstract

Metachromatic leukodystrophy, a group of progressive degenerative neurologic disease with variable age of onset characterized by an autosomal recessive mode of inheritance, shows an accumulation of the sphingolipid, sulfatide, particularly in the Schwann cell of the central and peripheral nervous system by arysulfatase A deficiency. 2 cases of late infantile metachromatic leukodystrophy are reported, who developed normally during a infantile period, but after that, occurred gait disturbance gradually and became in bedridden state and dementia. The Sural nerve biopsy revealed yellowish brown metachromatic granule in cresyl violet staining under acid pH, and cytoplasmic inclusions in Schwann cells by the electron microscopic finding.

Keywords :Late infantile metachromatic leukodystrophy