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[A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency].
Rinsho Shinkeigaku. 1989 Jul; 29(7):901-8.RS

Abstract

We report a 9 year-old boy with MELAS. High dosed oral thiamine administration and high fat diet induced remarkable neurological and biochemical improvement. His mother had episodic headaches and hemiplegia, probably MELAS. He complained muscle weakness and repeated episodes of vomiting started from 2 years of age. High levels of serum lactate and pyruvate were recognized, but with no metabolic acidosis. He developed generalized muscle weakness, growth retardation, generalized convulsions and stroke-like episodes at 5 years old. Optic nerve atrophy and mental retardation gradually appeared. A muscle biopsy at 5 years old revealed numerous ragged-red fibers with excess accumulation of lipid droplets and glycogen particles. Scattered fibers had no cytochrome c oxidase (CCO) activity representing focal CCO deficiency. An electron microscopy showed markedly increased number of giant mitochondria filled with markedly proliferated complicated cristae. Pyruvate dehydrogenase complex level in the fibroblasts was within normal ranges. Serum carnitine level was normal. With oral administration of thiamine hydrochloride (1000 mg) and high fat diet (60-70%), muscle weakness improved, and lactate and pyruvate levels in the serum reduced to normal ranges, whereas the mental deterioration, muscle atrophy, pes cavus progressed very slowly. He died from cardiac and renal failures at 9 years old. Autopsied muscles showed a marked decrease in cytochrome c oxidase activity (biochemically 12.8% of the normal level), and almost all muscle fibers had no cytochrome c oxidase activity histochemically. The progression of the MELAS was probably in parallel with the decrease in CCO activity.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

jpn

PubMed ID

2553313

Citation

Sumi, K, et al. "[A Case of MELAS (mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes) With Progressive Cytochrome C Oxidase Deficiency]." Rinsho Shinkeigaku = Clinical Neurology, vol. 29, no. 7, 1989, pp. 901-8.
Sumi K, Nagaura T, Itagaki Y, et al. [A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency]. Rinsho Shinkeigaku. 1989;29(7):901-8.
Sumi, K., Nagaura, T., Itagaki, Y., Inui, K., & Abe, J. (1989). [A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency]. Rinsho Shinkeigaku = Clinical Neurology, 29(7), 901-8.
Sumi K, et al. [A Case of MELAS (mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes) With Progressive Cytochrome C Oxidase Deficiency]. Rinsho Shinkeigaku. 1989;29(7):901-8. PubMed PMID: 2553313.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency]. AU - Sumi,K, AU - Nagaura,T, AU - Itagaki,Y, AU - Inui,K, AU - Abe,J, PY - 1989/7/1/pubmed PY - 1989/7/1/medline PY - 1989/7/1/entrez SP - 901 EP - 8 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 29 IS - 7 N2 - We report a 9 year-old boy with MELAS. High dosed oral thiamine administration and high fat diet induced remarkable neurological and biochemical improvement. His mother had episodic headaches and hemiplegia, probably MELAS. He complained muscle weakness and repeated episodes of vomiting started from 2 years of age. High levels of serum lactate and pyruvate were recognized, but with no metabolic acidosis. He developed generalized muscle weakness, growth retardation, generalized convulsions and stroke-like episodes at 5 years old. Optic nerve atrophy and mental retardation gradually appeared. A muscle biopsy at 5 years old revealed numerous ragged-red fibers with excess accumulation of lipid droplets and glycogen particles. Scattered fibers had no cytochrome c oxidase (CCO) activity representing focal CCO deficiency. An electron microscopy showed markedly increased number of giant mitochondria filled with markedly proliferated complicated cristae. Pyruvate dehydrogenase complex level in the fibroblasts was within normal ranges. Serum carnitine level was normal. With oral administration of thiamine hydrochloride (1000 mg) and high fat diet (60-70%), muscle weakness improved, and lactate and pyruvate levels in the serum reduced to normal ranges, whereas the mental deterioration, muscle atrophy, pes cavus progressed very slowly. He died from cardiac and renal failures at 9 years old. Autopsied muscles showed a marked decrease in cytochrome c oxidase activity (biochemically 12.8% of the normal level), and almost all muscle fibers had no cytochrome c oxidase activity histochemically. The progression of the MELAS was probably in parallel with the decrease in CCO activity. SN - 0009-918X UR - https://www.unboundmedicine.com/medline/citation/2553313/[A_case_of_MELAS__mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes__with_progressive_cytochrome_c_oxidase_deficiency]_ L2 - http://www.diseaseinfosearch.org/result/4071 DB - PRIME DP - Unbound Medicine ER -