Late-onset Leigh syndrome without delayed development in China: A case report.

ABSTRACT:

Background

Leigh syndrome (LS) is one of the most common mitochondrial diseases in infants and children. LS often manifests as early-onset with delayed phenotypic development. However, late-onset LS with normal development and white matter lesions in the brain is rarely reported, thereby highlighting the phenotypic variability of LS expression.

Case summary

We report a 12-year-old boy who presented with an unusual late-onset and fulminant form of LS that is maternally inherited without developmental delay. The patient was admitted to the hospital with symptoms of ptosis and somnolence, and died within 2 mo. Analysis of peripheral blood leukocytes showed a homoplasmic m.9176T>C mutation in the patient. Magnetic resonance imaging also revealed lesions in bilateral white matter

SUBMITTER: Liang JM 

PROVIDER: S-EPMC8409215 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature