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[Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: histological and biochemical analysis].
No To Hattatsu. 1989 Nov; 21(6):543-9.NT

Abstract

We reported a 3-week-old girl with profound generalized weakness, requiring assisted ventilation. There was no consanguinity or family history of any neuromuscular disorders. Serum levels of GOT, GPT and CK were slightly elevated. Although the clinical manifestations mimicked those of Werdning-Hoffmann disease, a lack of the respiratory muscle involvement and the presence of high serum lactate levels suggested an underlying metabolic disorder. During the observation over the months, she gradually improved clinically and assisted ventilation was discontinued at 19 months. Muscle biopsies were performed at 4 and 19 months of age. The first biopsy showed an excessive mitochondrial aggregation and numerous ragged-red fibers. The second biopsy revealed rare ragged-red fibers. However there were definite neurogenic changes including type grouping and angulated fibers. Cytochrome c oxidase (CCO) stain was positive in less than 5% of fibers in the first biopsy but in all fibers in the second biopsy. Biochemical analysis using muscle specimens showed a decreased CCO activity; 18.5% of the control level in the first biopsy and 53.3% in the second biopsy. Immunocytochemistry showed the presence of immunologically reactive enzyme protein in both biopsies. Clinical manifestations of our patient were almost identical to those of two cases reported by DiMauro, et al (1983). The enzyme defect in this case was reversible in contrast to that in the fatal infantile form of CCO deficiency. Histochemical and biochemical bases for these differences were discussed.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

jpn

PubMed ID

2553079

Citation

Suzuki, M, et al. "[Benign Infantile Mitochondrial Myopathy Due to Reversible Cytochrome C Oxidase Deficiency: Histological and Biochemical Analysis]." No to Hattatsu = Brain and Development, vol. 21, no. 6, 1989, pp. 543-9.
Suzuki M, Sugie H, Tsurui S, et al. [Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: histological and biochemical analysis]. No To Hattatsu. 1989;21(6):543-9.
Suzuki, M., Sugie, H., Tsurui, S., Miyamoto, R., Sugie, Y., Igarashi, Y., Kaku, H., & Fukami, S. (1989). [Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: histological and biochemical analysis]. No to Hattatsu = Brain and Development, 21(6), 543-9.
Suzuki M, et al. [Benign Infantile Mitochondrial Myopathy Due to Reversible Cytochrome C Oxidase Deficiency: Histological and Biochemical Analysis]. No To Hattatsu. 1989;21(6):543-9. PubMed PMID: 2553079.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: histological and biochemical analysis]. AU - Suzuki,M, AU - Sugie,H, AU - Tsurui,S, AU - Miyamoto,R, AU - Sugie,Y, AU - Igarashi,Y, AU - Kaku,H, AU - Fukami,S, PY - 1989/11/1/pubmed PY - 1989/11/1/medline PY - 1989/11/1/entrez SP - 543 EP - 9 JF - No to hattatsu = Brain and development JO - No To Hattatsu VL - 21 IS - 6 N2 - We reported a 3-week-old girl with profound generalized weakness, requiring assisted ventilation. There was no consanguinity or family history of any neuromuscular disorders. Serum levels of GOT, GPT and CK were slightly elevated. Although the clinical manifestations mimicked those of Werdning-Hoffmann disease, a lack of the respiratory muscle involvement and the presence of high serum lactate levels suggested an underlying metabolic disorder. During the observation over the months, she gradually improved clinically and assisted ventilation was discontinued at 19 months. Muscle biopsies were performed at 4 and 19 months of age. The first biopsy showed an excessive mitochondrial aggregation and numerous ragged-red fibers. The second biopsy revealed rare ragged-red fibers. However there were definite neurogenic changes including type grouping and angulated fibers. Cytochrome c oxidase (CCO) stain was positive in less than 5% of fibers in the first biopsy but in all fibers in the second biopsy. Biochemical analysis using muscle specimens showed a decreased CCO activity; 18.5% of the control level in the first biopsy and 53.3% in the second biopsy. Immunocytochemistry showed the presence of immunologically reactive enzyme protein in both biopsies. Clinical manifestations of our patient were almost identical to those of two cases reported by DiMauro, et al (1983). The enzyme defect in this case was reversible in contrast to that in the fatal infantile form of CCO deficiency. Histochemical and biochemical bases for these differences were discussed. SN - 0029-0831 UR - https://www.unboundmedicine.com/medline/citation/2553079/[Benign_infantile_mitochondrial_myopathy_due_to_reversible_cytochrome_c_oxidase_deficiency:_histological_and_biochemical_analysis]_ L2 - http://www.diseaseinfosearch.org/result/8902 DB - PRIME DP - Unbound Medicine ER -