Leigh's syndrome in an adult

Abstract

A 55-year-old man with a subacute onset of slurred speech, ataxia, nystagmus, extrapyramidal rigidity, decreased tendon reflexes, vomiting, bilateral optic atrophy, and clonic jerks died of bronchopneumonia and respiratory failure. Neuropathological examination showed lesions characteristic of subacute necrotizing encephalopathy. Clinicopathological observations of reported cases of Leigh's syndrome in the adult are reviewed.

Mitochondrial Encephalomyopathy with Sleep Apnea

“…The lesions in brainstem and bilateral globi pallidi by MRI, SEP, BAEP and brain CT were compatible with those in Leigh's syndrome, which is known to be associ ated with respiratory abnormalities [4], In the adult form of Leigh's syndrome [9,11,17,18], optic atrophy and clonic jerks are common, whereas ataxia and oculomotor paresis are seldom observed among the variable clinical pictures. Our case had cerebellar ataxia, but suffered nei ther from optic atrophy nor clonic seizure.…”

Late-adult onset Leigh syndrome

“…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 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.…”

“…[3][4][5][6][7][8][9][10]13,14 In the two patients who survived, 11,12 the diagnosis was made on MRI, muscle biopsy and elevated CSF and blood lactate levels. A genetic cause was only found in one of the 13 reports, 10 but seven of the reported patients dated from an era when no genetic cause of Leigh syndrome was recognized.…”

“…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.…”