A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive

Jessenia C. Guerrero, Helio Pedro, Sarah Parisotto, Debra Heller, Ada Baisre-de Leon

Research output: Contribution to journalArticle

Abstract

Reversible infantile respiratory chain deficiency, previously termed reversible infantile cytochrome c oxidase (COX) deficiency myopathy, is a rare mitochondrial disorder that is characterized by severe hypotonia and generalized muscle weakness in infancy that is associated with lactic acidosis. Affected infants will spontaneously recover, if they survive the first months of life. Here, we present the case of a 4-week-old girl who initially presented with hyperammonemia, hypotonia, and failure to thrive, for which she was referred for genetic evaluation. After several tests, a distinct genetic syndrome could not be identified and she continued to deteriorate. A muscle biopsy was performed and demonstrated severe mitochondrial myopathy with abundant COX-negative fibers. Ultrastructural abnormalities of the mitochondria, diagnostic of mitochondrial myopathy, were identified on electron microscopy. Molecular studies revealed the classic homoplasmic disease causing mutation, m.14674 T>C in the MT-TE gene, associated with reversible COX deficiency. Although hyperammonemia is an unusual presentation for mitochondrial myopathies, specifically reversible infantile respiratory chain deficiency, it should be included in the list of possible presenting symptoms for this condition.

Original languageEnglish (US)
JournalPediatric and Developmental Pathology
DOIs
StateAccepted/In press - Jan 1 2019

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Mitochondrial Myopathies
Hyperammonemia
Failure to Thrive
Muscle Hypotonia
Electron Transport
Oxidoreductases
Cytochrome-c Oxidase Deficiency
Mitochondrial Diseases
Lactic Acidosis
Muscle Weakness
Muscular Diseases
Electron Microscopy
Mitochondria
Biopsy
Muscles
Mutation
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

Keywords

  • cytochrome c oxidase deficiency
  • failure to thrive
  • hyperammonemia
  • mitochondrial myopathy

Cite this

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abstract = "Reversible infantile respiratory chain deficiency, previously termed reversible infantile cytochrome c oxidase (COX) deficiency myopathy, is a rare mitochondrial disorder that is characterized by severe hypotonia and generalized muscle weakness in infancy that is associated with lactic acidosis. Affected infants will spontaneously recover, if they survive the first months of life. Here, we present the case of a 4-week-old girl who initially presented with hyperammonemia, hypotonia, and failure to thrive, for which she was referred for genetic evaluation. After several tests, a distinct genetic syndrome could not be identified and she continued to deteriorate. A muscle biopsy was performed and demonstrated severe mitochondrial myopathy with abundant COX-negative fibers. Ultrastructural abnormalities of the mitochondria, diagnostic of mitochondrial myopathy, were identified on electron microscopy. Molecular studies revealed the classic homoplasmic disease causing mutation, m.14674 T>C in the MT-TE gene, associated with reversible COX deficiency. Although hyperammonemia is an unusual presentation for mitochondrial myopathies, specifically reversible infantile respiratory chain deficiency, it should be included in the list of possible presenting symptoms for this condition.",
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A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive. / Guerrero, Jessenia C.; Pedro, Helio; Parisotto, Sarah; Heller, Debra; Baisre-de Leon, Ada.

In: Pediatric and Developmental Pathology, 01.01.2019.

Research output: Contribution to journalArticle

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