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Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.
J Neurol Sci. 1992 Mar; 108(1):105-13.JN

Abstract

Three children displaying hypotonia, cardiac involvement and defects of the mitochondrial respiratory chain complexes are reported. The first case showed severe neonatal hypotonia, failure to thrive, hepatomegaly, dilation of the right cardiac cavities, profound lactic acidosis and amino aciduria. The boy died at the age of 7 weeks. In the second case hypotonia, severe cardiomyopathy, cyclic neutropenia, lactic acidosis and 3-methylglutaconic aciduria occurred. The boy died at the age of 27 months. The third case presented at the age of 16 months as an acute hypokinetic hypertrophic cardiomyopathy with transient hypotonia and mild lactic acidosis. Spontaneous clinical remission occurred. In all cases muscle biopsy was performed. Morphological studies failed to show ragged-red fibers but there was lipid storage myopathy and decreased cytochrome c oxidase activity. Biochemical studies confirmed the cytochrome c oxidase deficiency in muscle in all cases. It was associated with complex I III deficiency in case 1 and with severe deficits of all respiratory chain complexes in case 2. Post-mortem studies in case 1 indicated that complex IV was reduced in the liver but not in the heart and quantitative analysis of mtDNA revealed a depletion in muscle. Cases 1 and 2 shared some clinical features with fatal infantile myopathy associated with cytochrome c oxidase deficiency, while case 3 displayed a very unusual clinical presentation. The histochemical enzyme reaction of cytochrome c oxidase is useful for the diagnosis of mitochondrial myopathy because ragged-red fibers may be lacking. Finally, biochemical measurement of the different mitochondrial respiratory chain complexes is required because multiple defects are frequent and occasionally related to mtDNA depletion.

Authors+Show Affiliations

Laboratoire d'Anatomie Pathologique, Hôpital de la Timone, Marseille, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

1320661

Citation

Figarella-Branger, D, et al. "Defects of the Mitochondrial Respiratory Chain Complexes in Three Pediatric Cases With Hypotonia and Cardiac Involvement." Journal of the Neurological Sciences, vol. 108, no. 1, 1992, pp. 105-13.
Figarella-Branger D, Pellissier JF, Scheiner C, et al. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci. 1992;108(1):105-13.
Figarella-Branger, D., Pellissier, J. F., Scheiner, C., Wernert, F., & Desnuelle, C. (1992). Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. Journal of the Neurological Sciences, 108(1), 105-13.
Figarella-Branger D, et al. Defects of the Mitochondrial Respiratory Chain Complexes in Three Pediatric Cases With Hypotonia and Cardiac Involvement. J Neurol Sci. 1992;108(1):105-13. PubMed PMID: 1320661.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. AU - Figarella-Branger,D, AU - Pellissier,J F, AU - Scheiner,C, AU - Wernert,F, AU - Desnuelle,C, PY - 1992/3/1/pubmed PY - 1992/3/1/medline PY - 1992/3/1/entrez SP - 105 EP - 13 JF - Journal of the neurological sciences JO - J Neurol Sci VL - 108 IS - 1 N2 - Three children displaying hypotonia, cardiac involvement and defects of the mitochondrial respiratory chain complexes are reported. The first case showed severe neonatal hypotonia, failure to thrive, hepatomegaly, dilation of the right cardiac cavities, profound lactic acidosis and amino aciduria. The boy died at the age of 7 weeks. In the second case hypotonia, severe cardiomyopathy, cyclic neutropenia, lactic acidosis and 3-methylglutaconic aciduria occurred. The boy died at the age of 27 months. The third case presented at the age of 16 months as an acute hypokinetic hypertrophic cardiomyopathy with transient hypotonia and mild lactic acidosis. Spontaneous clinical remission occurred. In all cases muscle biopsy was performed. Morphological studies failed to show ragged-red fibers but there was lipid storage myopathy and decreased cytochrome c oxidase activity. Biochemical studies confirmed the cytochrome c oxidase deficiency in muscle in all cases. It was associated with complex I III deficiency in case 1 and with severe deficits of all respiratory chain complexes in case 2. Post-mortem studies in case 1 indicated that complex IV was reduced in the liver but not in the heart and quantitative analysis of mtDNA revealed a depletion in muscle. Cases 1 and 2 shared some clinical features with fatal infantile myopathy associated with cytochrome c oxidase deficiency, while case 3 displayed a very unusual clinical presentation. The histochemical enzyme reaction of cytochrome c oxidase is useful for the diagnosis of mitochondrial myopathy because ragged-red fibers may be lacking. Finally, biochemical measurement of the different mitochondrial respiratory chain complexes is required because multiple defects are frequent and occasionally related to mtDNA depletion. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/1320661/Defects_of_the_mitochondrial_respiratory_chain_complexes_in_three_pediatric_cases_with_hypotonia_and_cardiac_involvement_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0022-510X(92)90195-Q DB - PRIME DP - Unbound Medicine ER -