Subacute necrotizing encephalomyelopathy (Leigh's disease)

report of a case.

M. L. Tsai, K. L. Hung, T. Y. Chen

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

A 5-month-old male infant was referred to us for evaluation of progressive hypotonia. He had growth retardation, feeding difficulty and general weakness. Brain sonography and computed tomography demonstrated symmetrical lesions in the caudate, lenticular nuclei, thalamus and hypothalamus, suggesting bilateral necrosis. Lactate and pyruvate levels in the blood and cerebral spinal fluid were persistently elevated. A biopsy of the quadriceps muscle showed increased subsarcolemmal mitochondrial enzyme activity on light microscopy. Electron microscopy of the muscle showed deformed and bizarre mitochondria. The patient eventually died at the age of 8 months. Autopsy showed bilateral necrotic foci in the caudate, lenticular nuclei, thalamus, hypothalamus, midbrain, and pons. Histopathologic findings included spongiform degeneration of the affected brain tissue. The characteristic clinical and pathological findings confirmed this case as subacute necrotizing encephalo-myelopathy of Leigh's type. To our knowledge, this is the first autopsy-proven case of Leigh's disease in Taiwan.

Original languageEnglish
Pages (from-to)799-802
Number of pages4
JournalJournal of the Formosan Medical Association = Taiwan yi zhi
Volume89
Issue number9
Publication statusPublished - Sep 1 1990
Externally publishedYes

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Leigh Disease
Corpus Striatum
Caudate Nucleus
Thalamus
Hypothalamus
Autopsy
Muscle Hypotonia
Pons
Spinal Cord Diseases
Quadriceps Muscle
Brain
Mesencephalon
Pyruvic Acid
Taiwan
Microscopy
Lactic Acid
Ultrasonography
Electron Microscopy
Mitochondria
Necrosis

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Subacute necrotizing encephalomyelopathy (Leigh's disease) : report of a case. / Tsai, M. L.; Hung, K. L.; Chen, T. Y.

In: Journal of the Formosan Medical Association = Taiwan yi zhi, Vol. 89, No. 9, 01.09.1990, p. 799-802.

Research output: Contribution to journalArticle

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