Leigh disease (subacute necrotizing encephalomyelopathy): report of one case.

T. S. Wu; C. C. Lee; J. T. Lin; H. H. Hsu; S. T. Lin; Y. J. Jong; E. Y. Shen

Leigh disease (subacute necrotizing encephalomyelopathy): report of one case.

T. S. Wu, C. C. Lee, J. T. Lin, H. H. Hsu, S. T. Lin, Y. J. Jong, E. Y. Shen

Taipei Medical University Hospital

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

A case is reported of a 16-month-old girl who presented with generalized hypotonia, ptosis and persistent low grade fever after a previous pneumonia. Brain CT and MRI showed symmetric necrotizing lesions in the basal ganglia, substantia nigra and periaqueduct area. Lactate and pyruvate levels were elevated in both the blood and cerebrospinal fluid. Biopsy of the rectus femoris muscle for electron microscopic examination revealed some distortion of the mitochondrial cristae. Biochemical study showed normal respiratory chain enzymes. Leigh disease was considered from the neuroradiological findings and morphological investigations.

Original language	English
Pages (from-to)	301-307
Number of pages	7
Journal	Acta Paediatrica Sinica
Volume	34
Issue number	4
Publication status	Published - Jul 1993

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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title = "Leigh disease (subacute necrotizing encephalomyelopathy): report of one case.",

abstract = "A case is reported of a 16-month-old girl who presented with generalized hypotonia, ptosis and persistent low grade fever after a previous pneumonia. Brain CT and MRI showed symmetric necrotizing lesions in the basal ganglia, substantia nigra and periaqueduct area. Lactate and pyruvate levels were elevated in both the blood and cerebrospinal fluid. Biopsy of the rectus femoris muscle for electron microscopic examination revealed some distortion of the mitochondrial cristae. Biochemical study showed normal respiratory chain enzymes. Leigh disease was considered from the neuroradiological findings and morphological investigations.",

author = "Wu, {T. S.} and Lee, {C. C.} and Lin, {J. T.} and Hsu, {H. H.} and Lin, {S. T.} and Jong, {Y. J.} and Shen, {E. Y.}",

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T1 - Leigh disease (subacute necrotizing encephalomyelopathy)

T2 - report of one case.

AU - Wu, T. S.

AU - Lee, C. C.

AU - Lin, J. T.

AU - Hsu, H. H.

AU - Lin, S. T.

AU - Jong, Y. J.

AU - Shen, E. Y.

PY - 1993/7

Y1 - 1993/7

N2 - A case is reported of a 16-month-old girl who presented with generalized hypotonia, ptosis and persistent low grade fever after a previous pneumonia. Brain CT and MRI showed symmetric necrotizing lesions in the basal ganglia, substantia nigra and periaqueduct area. Lactate and pyruvate levels were elevated in both the blood and cerebrospinal fluid. Biopsy of the rectus femoris muscle for electron microscopic examination revealed some distortion of the mitochondrial cristae. Biochemical study showed normal respiratory chain enzymes. Leigh disease was considered from the neuroradiological findings and morphological investigations.

AB - A case is reported of a 16-month-old girl who presented with generalized hypotonia, ptosis and persistent low grade fever after a previous pneumonia. Brain CT and MRI showed symmetric necrotizing lesions in the basal ganglia, substantia nigra and periaqueduct area. Lactate and pyruvate levels were elevated in both the blood and cerebrospinal fluid. Biopsy of the rectus femoris muscle for electron microscopic examination revealed some distortion of the mitochondrial cristae. Biochemical study showed normal respiratory chain enzymes. Leigh disease was considered from the neuroradiological findings and morphological investigations.

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JO - Acta Paediatrica Sinica

JF - Acta Paediatrica Sinica

IS - 4

ER -

Leigh disease (subacute necrotizing encephalomyelopathy): report of one case.

Abstract

ASJC Scopus subject areas

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