|Case 14 :|
|A child presents with delayed milestones, and loss of head control. MRI is performed. What is the diagnosis?|
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The images show hyperintensity involing the thalami bilaterally, left more than right with multiple cortical hyperintensities involving the right frontal , bilateral temporal lobes and brain stem.
Leigh's disease is
a rare inherited neurometabolic disorder characterized by degeneration
of the central nervous system. G mutation at position 8993 in human mitochondrial
DNA is associated with the syndrome neuropathy, ataxia, and retinitis
pigmentosa and with a maternally inherited form of Leigh's syndrome. The
mutation substitutes an arginine for a leucine at amino acid position
156 in ATPase 6, a component of the F0 portion of the mitochondrial ATP
The pathological changes of subacute necrotizing encephalomyelitis characterized by necrosis with vascular proliferation in the gray and white matter, spongiform degeneration, and demyelination are reflected in the MR findings. These lesions seen predominantly in the brain stem, basal ganglia, and optic pathways are hyperintense on T2WI. Usually these lesions are symmetrical. Occasional hypointense areas in the putamen area on T2WI may represent iron deposition.
Deepak Patkar, MRI Centre, Nanavati Hospital, Mumbai