Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation

作者：Fruhman Gary; Landsverk Megan L; Lotze Timothy E; Hunter Jill V; Wangler Michael F; Adesina Adekunle M; Wong Lee Jun C; Scaglia Fernando^*

来源：Molecular Genetics and Metabolism, 2011, 103(2): 153-160.

DOI：10.1016/j.ymgme.2011.02.014

• Atypical Leigh syndrome
• Leber hereditary optic neuropathy
• Mitochondrial DNA mutation
• Phenotypic variation

Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondria! DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations.

• 出版日期2011-6