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

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.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research