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.