ReviewLate-adult onset Leigh syndrome
Introduction
Leigh syndrome is a well-recognized, usually fatal metabolic encephalopathy of infants.[1], [2] Multiple underlying genetic causes, involving both mitochondrial and nuclear DNA gene mutations, have been described.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.
Section snippets
Presentation
A 74-year-old man was admitted to hospital after presenting to the Emergency Department of a metropolitan hospital following an unexplained collapse. Over the preceding week, in the absence of overt intercurrent illness, the patient had been noted by his family to exhibit increasing confusion, slowed walking and difficulty speaking, with apparent slowness of thought. On the morning of presentation, difficulties dressing were also evident. Up until the day of admission, the patient was still
Discussion
Leigh syndrome or subacute necrotizing encephalomyelopathy is a severe, progressive, metabolic neurodegenerative disorder with uniform neuroradiological and neuropathological changes but prominent clinical and genetic heterogeneity.1
Although Leigh syndrome is typically a disorder of infancy and early childhood, usually with death occurring by two years of age, it can be rarely seen in adolescents or adults.1 These may be patients with congenital Leigh syndrome who survive to adulthood or who
References (20)
Leigh and Leigh-like syndrome in children and adults
Pediatr Neurol
(2008)- et al.
An adult case of Leigh disease
Clin Neurol Neurosurg
(2004) - et al.
Atypical presentations of Leigh syndrome
Pediat Neurol
(2005) - et al.
Neuroimaging of mitochondrial disease
Mitochondrion
(2008) - et al.
Wernicke’s encephalopathy: new clinical settings and recent advances in diagnosis and management
Lancet Neurol
(2007) - et al.
Leigh syndrome: clinical features and biochemical and DNA abnormalities
Ann Neurol
(1996) - et al.
Adult form of subacute necrotizing encephalomyelopathy
Arch Pathol Lab Med
(1979) - et al.
Leigh’s syndrome in an adult
J Neurol
(1984) - et al.
Adult form of Leigh’s disease: a clinicopathological case with CT scan examination
J Neurol Neurosurg Psych
(1984) - et al.
Necrotizing haemorrhagic encephalomyelopathy in an adult: Leigh’s disease
J Neurol Neurosurg Psych
(1987)
Cited by (44)
Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics
2023, Epilepsy and BehaviorNatural History of SURF1 Deficiency: A Retrospective Chart Review
2023, Pediatric NeurologyCitation Excerpt :LS is characterized by developmental delay and regression, hypotonia, ataxia, dystonia, nystagmus, optic atrophy, epileptic seizures, feeding/sucking difficulties, weakness, and fatigue.5,6 Symptom onset is generally before two years7; however, rare adult-onset cases of subacute necrotizing encephalomyelopathy have been reported.8 There is also variation in age of death.7,8
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
2022, Molecular Genetics and Metabolism ReportsMitochondrial dysfunction in inborn errors of metabolism
2021, Mitochondrial Dysfunction and Nanotherapeutics: Aging, Diseases, and Nanotechnology-Related Strategies in Mitochondrial MedicineClinical characteristics and diagnostic clues to Neurometabolic causes of dystonia
2020, Journal of the Neurological Sciences