Paediatric Radiology

Imaging Findings

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.

Diagnosis

Leigh's disease

Discussion

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 synthase complex.
Symptoms of Leigh's disease, a rapidly progressive disorder, usually begin between the ages of 3 months and 2 years. In most children, the first noticeable signs may be poor sucking ability, loss of head control, and loss of previously acquired motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and/or seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis. Lactic acidosis, the accumulation of lactic acid in the brain, may lead to impairment of respiratory and kidney function. Heart problems may also occur. In rare cases, Leigh's disease may begin during late adolescence or early adulthood. In these cases, the progression of the disease is slower than the classical form.

MRI Findings

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.

Dr Deepak Patkar, MRI Centre, Nanavati Hospital, Mumbai