A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy

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3 Citations (Scopus)

Abstract

A 26-month-old child presented with an unusual combination of growth retardation, renal proximal tubulopathy, hypoparathyroidism, and episodic encephalopathy with fever and lethargy. Muscle biopsy revealed defects of mitochondrial respiratory chain enzyme complexes I, III, and IV, but no ragged-red fibers or cytochrome c oxidase deficient fibers. Analysis of muscle mitochondrial DNA (mtDNA) showed a heteroplasmic 7663 base pair (bp) single deletion with a perfect 10 bp direct sequence repeat at the boundaries. At age 3 years and 9 months, the child developed sepsis and acute deterioration of her encephalopathy leading to death. This case expands the phenotypic diversity of mitochondrial disorders in pediatric patients and reinforces the importance of biochemical analyses of muscle biopsies in patients suspected of having a mitochondrial disorder.

Original languageEnglish
Pages (from-to)104-106
Number of pages3
JournalJournal of the Neurological Sciences
Volume292
Issue number1-2
DOIs
StatePublished - 15 May 2010

Fingerprint

Brain Diseases
Mitochondrial DNA
Mitochondrial Diseases
Base Pairing
Muscles
Biopsy
Hypoparathyroidism
Lethargy
Nucleic Acid Repetitive Sequences
Electron Transport Complex IV
Electron Transport
Sepsis
Fever
Pediatrics
Kidney
Enzymes
Growth

Keywords

  • Encephalopathy
  • Hypoparathyroidism
  • Leigh syndrome
  • Mitochondrial DNA deletion
  • Tubulopathy

Cite this

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title = "A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy",
abstract = "A 26-month-old child presented with an unusual combination of growth retardation, renal proximal tubulopathy, hypoparathyroidism, and episodic encephalopathy with fever and lethargy. Muscle biopsy revealed defects of mitochondrial respiratory chain enzyme complexes I, III, and IV, but no ragged-red fibers or cytochrome c oxidase deficient fibers. Analysis of muscle mitochondrial DNA (mtDNA) showed a heteroplasmic 7663 base pair (bp) single deletion with a perfect 10 bp direct sequence repeat at the boundaries. At age 3 years and 9 months, the child developed sepsis and acute deterioration of her encephalopathy leading to death. This case expands the phenotypic diversity of mitochondrial disorders in pediatric patients and reinforces the importance of biochemical analyses of muscle biopsies in patients suspected of having a mitochondrial disorder.",
keywords = "Encephalopathy, Hypoparathyroidism, Leigh syndrome, Mitochondrial DNA deletion, Tubulopathy",
author = "Chae, {Jong Hee} and Lim, {Byung Chan} and Cheong, {Hae Il} and Hwang, {Yong Seung} and Kijoong Kim and Hee Hwang",
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T1 - A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy

AU - Chae, Jong Hee

AU - Lim, Byung Chan

AU - Cheong, Hae Il

AU - Hwang, Yong Seung

AU - Kim, Kijoong

AU - Hwang, Hee

PY - 2010/5/15

Y1 - 2010/5/15

N2 - A 26-month-old child presented with an unusual combination of growth retardation, renal proximal tubulopathy, hypoparathyroidism, and episodic encephalopathy with fever and lethargy. Muscle biopsy revealed defects of mitochondrial respiratory chain enzyme complexes I, III, and IV, but no ragged-red fibers or cytochrome c oxidase deficient fibers. Analysis of muscle mitochondrial DNA (mtDNA) showed a heteroplasmic 7663 base pair (bp) single deletion with a perfect 10 bp direct sequence repeat at the boundaries. At age 3 years and 9 months, the child developed sepsis and acute deterioration of her encephalopathy leading to death. This case expands the phenotypic diversity of mitochondrial disorders in pediatric patients and reinforces the importance of biochemical analyses of muscle biopsies in patients suspected of having a mitochondrial disorder.

AB - A 26-month-old child presented with an unusual combination of growth retardation, renal proximal tubulopathy, hypoparathyroidism, and episodic encephalopathy with fever and lethargy. Muscle biopsy revealed defects of mitochondrial respiratory chain enzyme complexes I, III, and IV, but no ragged-red fibers or cytochrome c oxidase deficient fibers. Analysis of muscle mitochondrial DNA (mtDNA) showed a heteroplasmic 7663 base pair (bp) single deletion with a perfect 10 bp direct sequence repeat at the boundaries. At age 3 years and 9 months, the child developed sepsis and acute deterioration of her encephalopathy leading to death. This case expands the phenotypic diversity of mitochondrial disorders in pediatric patients and reinforces the importance of biochemical analyses of muscle biopsies in patients suspected of having a mitochondrial disorder.

KW - Encephalopathy

KW - Hypoparathyroidism

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