Paediatric ImagingLeigh's disease
(Denis Leigh, born 1915, British psychiatrist), subacute necrotizing encephalomyelopathy.
A mitochondrial cytopathy due to an inborn error of mitochondrial energy metabolism.
Patients present with regressive psychomotor development, ataxia, bulbar palsy, visual loss and fits, tremors and respiratory failure. MRI shows delayed myelination, with T1 and T2 prolongation affecting the thalami, substantia nigra periaqueductal grey matter and cortex (Fig.1). Brain atrophy is progressive.
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CT scan (a) and MR scan (b) of two children with Leigh's disease. The CT scan shows low attenuation in the basal ganglia, particularly affecting the globus pallidus. MR scan different child. These T2-weighted images show high signal within the cerebral peduncles and dorsal mid brain.
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Leigh's disease, Fig.1 | | Leigh's disease, Fig.1 | |