CLINICAL AND NEUROIMAGING CORRELATES OF LEIGH SYNDROME , A CASE SERIES AND REVIEW OF LITERATURE

Leigh syndrome, also referred to as Sub acute necrotising encephalopathy usually presents with symptoms like developmental delay, regression of neurological skills and sudden death. Approximately 25% of the patients are abnormal at birth with features like hypotonia, lactic acidosis, feeding problems, hypoglycemia, hyperbilirubinemia, cardiac complications, seizures and/or hyperammonemia. Here, we present 6 cases of Leigh's disease , who presented within 6 months of life with neurological regression and hypotonia as the predominent manifestations with MRI ndings showing Bilateral symmetrical hyperintensities in T2 weighted images which are characteristic ndings in Leigh's disease.

Leigh's Disease: The Acute Clinical Course of a Two-Year-Old Child with Subacute Necrotizing Encephalomyelopathy

We report the untypical clinical course of a previously healthy two-year-old girl, who died suddenly and unexpectedly after an episode of vomiting. At forensic autopsy no other pathological findings could be diagnosed than multiple reddish, sunken areas in brain stem, mesencephalon, and pons. Histologically they presented as areas of spongiosis of the neuropil with prominent endothelial hyperplasia and vascular proliferation whereas nerve cells were well preserved. On the basis of the characteristic neuropathological findings in combination with the age of the child, we had to take into consideration that the child might have died from subacute necrotizing encephalomyelopathy (Leigh's Disease) despite the untypical, fulminant clinical course.