[Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency].
Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect is unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-c oxidase or pyruvate dehydrogenase are described. The clinical picture usually consists of an altered breathing pattern, oculomotor paralysis, other signs of cranial nerve dysfunction, ataxia, myoclonic jerks, nystagmus, generalized seizures, optic atrophy and demyelinating peripheral neuropathy. Hypopnea leads to CO2-retention with consecutive loss of consciousness demanding mechanical ventilation. Respiratory failure is the most frequent cause of death. Here we describe two patients with adult onset Leigh's syndrome and we discuss the longterm treatment strategies including vitamin B1 and CPAP mask.
Spranger
M
M
Neurologische Klinik, Universität Heidelberg.
Schwab
S
S
Wiebel
M
M
Becker
C M
CM
D000328:Adult; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications / Q000175:diagnosis; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000209:etiology*; D013681:Tegmentum Mesencephali / Q000473:pathology; D013787:Thalamic Nuclei / Q000473:pathology
Das adulte Leigh-Syndrom. Eine seltene Differentialdiagnose einer zentralen Atemregulationsstörung.