MRI Findings of Leigh Disease (Subacute Necrotizing Encephlo-Myelopathy)—A Rare Case Report
Imtiaz Ali Panhwar *
Liaquat National Hospital Karachi, Pakistan.
Rasia Altaf
Liaquat National Hospital Karachi, Pakistan.
Rabiya Siraj
Liaquat National Hospital Karachi, Pakistan.
Bushra Shamim
Liaquat National Hospital Karachi, Pakistan.
Ashok Kumar
Liaquat National Hospital Karachi, Pakistan.
*Author to whom correspondence should be addressed.
Abstract
LEIGH disease is a rare, inherited mitochondrial DNA disorder presenting in infancy and early childhood resulting in death at an early age. It is also known as subacute necrotizing encephalomyelopathy. There is progressive neurodegeneration characteristically of the grey matter nuclei of the cerebellum, diencephalon, basal ganglia and brainstem. Despite the morbidity associated with the disease only few cases have been reported. We therefore present the case of four months old girl who presented with fits and altered level of consciousness, with family history of mitochondrial disorders. Her workup was done and imaging findings are discussed below. The purpose of this case report is to help the radiologists in the diagnosis of this disease by elaborating the specific features of LEIGH disease.
Keywords: LEIGH disease, MRI, neurodegeneration, subacute necrotizing encephalomyelopathy