Year: 2010
Type: article
Study design: Case Report
Abstract: We report MRI periaqueductal T2 hypersignal suggestive of tectal glioma in 3 unrelated children with reduced vision and normal mental development (figure). Increased CSF lactate and optic atrophy in the first case suggested mitochondrial dysfunction. Muscle biopsy revealed complex I deficiency. A heteroplasmic mt-ND5 mutation was found (m.13513GA). 1 The second case presented with similar clinicoradiologic features, complex I deficiency, and the same heteroplasmic mutation. The third case had visual disturbance without optic atrophy, normal muscle enzyme activities, and a heteroplasmic mt-ND5 mutation (m.13514AG). 2 Even in absence of optic atrophy, mental retardation, or multiorgan dysfunction, the combination of visual disturbance and periaqueductal T2 hypersignal should prompt the search for mitochondrial DNA mutation.
Source: Neurology
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2145869789