Magnetic Resonance Imaging in a Case of Autopsy-Proved Adult Subacute Necrotizing Encephalomyelopathy (Leigh's Disease)

CT-Guided Stereotactic Biopsies of Lesions in the Medulla and a Case of Leigh's Disease

“…It has been suggested that this disease is definitively diagnosed only at postmortem, thus this diagnosis may be difficult to confirm during life [12]. Although recently two reports [4,7] have reported MRI manifesta tions of Leigh's disease, our case is the first adult to be diagnosed with this syndrome during life and to be clinically stable. We therefore sug gest that brain stem lesions should not be treated empirically and a tis sue diagnosis should be obtained to prevent inappropriate therapy.…”

“…It seems to represent a heterogeneous group of disorders caused by one of several disturbances of pyruvate metabo lism; no diagnostic biochemical abnormality has yet been identified [7]. It has been suggested that this disease is definitively diagnosed only at postmortem, thus this diagnosis may be difficult to confirm during life [12].…”

Late-adult onset Leigh syndrome

“…1 Adult patients can present with typical features of Leigh syndrome 10 or with more diverse symptoms. [3][4][5][6][7][8][9][10][11][12][13][14] Atypical forms or Leigh-like syndrome show some Leigh-like features, but atypical neurological, neuroradiological or neuropathological features such as absence of high plasma lactate. 1,15 Rahman and colleagues propose stringent criteria to define Leigh syndrome in infants and children.…”

“…Fewer than 15 patients with typical neuropathological or neuroradiological features of Leigh syndrome and onset of symptoms as an adult have been reported (Table 1). [3][4][5][6][7][8][9][10][11][12][13][14] Although we identified significantly reduced complex IV enzyme levels and very low histochemical COX activity in numerous skeletal muscles, we were unable to identify the specific genetic defect despite broad mtDNA screening, including for the common defects. Leigh syndrome is the mitochondrial disorder with the broadest genetic heterogeneity.…”

“…1 In contrast, adult-onset Leigh syndrome is very rare. [3][4][5][6][7][8][9][10][11][12][13][14] We present a 74-year-old previously well man with characteristic neuropathological and neuroradiological features of very late-onset Leigh syndrome who died after a short illness.…”