Leigh's disease associated with a dorsal midbrain syndrome.
Leigh's disease is a rare progressive neurodegenerative condition caused by a mitochondrial cytopathy. The authors present the case of a 9-year-old girl with dorsal midbrain syndrome causing convergence retraction nystagmus. Magnetic resonance imaging, skin biopsy, and genetic testing confirmed the cause to be Leigh's disease due to two SURF1 mutations. To the authors' knowledge, this is the first reported case of dorsal midbrain syndrome caused by a mitochondrial cytopathy.
West
Stephanie K
SK
Queen Elizabeth II Hospital, Hertfordshire, United Kingdom.
Connors
Lesley
L
Cox
Timothy C S
TC
Coker
Timothy P
TP
D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000209:etiology*; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000209:etiology*; D013577:Syndrome; D014792:Visual Acuity