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Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

Abstract
Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript.
AuthorsStéphanie Paquay, Valérie Benoit, Catherine Wetzburger, Monique Cordonnier, Françoise Meire, Anne Charon, Dominique Roland, Rudy Van Coster, Marie-Cécile Nassogne, Isabelle Maystadt
JournalJournal of child neurology (J Child Neurol) Vol. 29 Issue 8 Pg. NP18-23 (Aug 2014) ISSN: 1708-8283 [Electronic] United States
PMID23864591 (Publication Type: Case Reports, Journal Article)
Copyright© The Author(s) 2013.
Chemical References
  • DNA, Mitochondrial
Topics
  • Adolescent
  • Aging, Premature (complications, genetics)
  • Brain (pathology)
  • DNA, Mitochondrial (genetics)
  • Humans
  • Leber Congenital Amaurosis (complications, genetics)
  • Magnetic Resonance Imaging
  • Male
  • Mutation (genetics)

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