Journal of the Korean Pediatric Society 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
Late Infantile Metachromatic Leukodystrophy 2례
노미란1, 이경화1, 이동환1, 이상주1, 이동환2, 강득용2, 권태정3, 김정숙3
1순천향대학 의학부 소아과교실
2순천향대학 의학부 임상병리학교실
3순천향대학 의학부 전자현미경교실
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.
Key Words: Late infantile metachromatic leukodystrophy




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