Symmetric basal ganglia calcification in a 9-year-old child with melas
Journal
Neurology
Journal Volume
65
Journal Issue
9
Date Issued
2005
Author(s)
Abstract
A 9-year-old boy presented with headache, vomiting, and leftward eye gaze deviation. On examination, left homonymous hemianopia, horizontal nystagmus, and anisocoric pupils were noted. Brain CT disclosed symmetric calcification in basal ganglia (figure A). Blood examination showed lactic academia. Further MRI revealed right occipito-temporo-parietal cortical hyperintensities (figure, B and C). Muscle biopsy revealed raggedred fibers, and genetic study showed an A3243G point mutation, confirming the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and strokelike symptoms (MELAS). Symmetric basal ganglia calcification, focal cerebral lesions not confined to the vascular territories in a young patient warrant further workup for mitochondrial cytopathy. 1,
SDGs
Other Subjects
anisocoria; article; basal ganglion; brain cortex; calcinosis; case report; child; computer assisted tomography; extrapyramidal syndrome; genetic predisposition; genetics; headache; hemianopia; human; male; MELAS syndrome; nuclear magnetic resonance imaging; nystagmus; pathology; pathophysiology; point mutation; radiography; skeletal muscle; Anisocoria; Basal Ganglia; Basal Ganglia Diseases; Calcinosis; Cerebral Cortex; Child; Genetic Predisposition to Disease; Headache; Hemianopsia; Humans; Magnetic Resonance Imaging; Male; MELAS Syndrome; Muscle, Skeletal; Nystagmus, Pathologic; Point Mutation; Tomography, X-Ray Computed
Type
journal article