Antemortem diagnosis of Leigh's disease: role of magnetic resonance studies.

ABSTRACT

A two-and-a-half-year-old male child presented with recurrent attacks of intractable vomiting, psychomotor retardation since 14 months of age. He had also lower cranial nerve palsy and corticospinal involvement. Magnetic resonance imaging had shown multiple well circumscribed areas of hypointusity in T1 weighted image which were brightly hyperintense in heavily T2-weighted image. The lesions were seen in basal ganglia, thalamii and brainstem and spared mamillary bodies. Magnetic resonance spectroscopy demonstrated lactate peak in the affected areas confirming the diagnosis of Leigh's disease. The child responded well to large dose of vitamin 'B' therapy.