Journal of Pediatric Neurosciences
CASE REPORT
Year
: 2020  |  Volume : 15  |  Issue : 2  |  Page : 108--110

Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation


Dhinesh Baskaran, Nahin Hussain 
 Department of Paediatric Neurology, Leicester Royal Infirmary, Leicester, UK

Correspondence Address:
Dr. Dhinesh Baskaran
Department of Paediatric Neurology, Leicester Royal Infirmary, Leicester LE1 5WW.
UK

Leigh syndrome (or subacute necrotizing encephalomyelopathy) is a rare neurodegenerative disorder characterized by psychomotor retardation or regression, typically occurring in stepwise decrements. Onset is typically between ages 3 and 12 months. Neurological manifestations include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy, whereas extraneurological manifestations may include hypertrophic cardiomyopathy, hypertrichosis, anemia, renal tubulopathy, liver involvement, ptosis, and muscle weakness. Approximately 50% of affected individuals die by age 3 years, most often as a result of respiratory or cardiac failure. We report a case of 22-month-old female child presenting to us with severe failure to thrive, dysmorphic features, hirsutism, external ophthalmoplegia epilepsy, and neuroregression with characteristic findings of Leigh’s syndrome on neuroimaging and her muscle biopsy revealed evidence of mitochondrial respiratory chain defect involving complex IV and SURF1 mutation.


How to cite this article:
Baskaran D, Hussain N. Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation.J Pediatr Neurosci 2020;15:108-110


How to cite this URL:
Baskaran D, Hussain N. Facial dysmorphism, hirsutism, and failure to thrive as manifestation of Leigh syndrome in a child with SURF1 mutation. J Pediatr Neurosci [serial online] 2020 [cited 2022 Aug 9 ];15:108-110
Available from: https://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2020;volume=15;issue=2;spage=108;epage=110;aulast=Baskaran;type=0