Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.
Pyruvate dehydrogenase (PDH) deficiency is a genetic disorder of mitochondrial metabolism. The clinical manifestations range from severe neonatal lactic acidosis to chronic neurodegeneration. Optic neuropathy is an uncommon clinical sequela and the imaging findings of optic neuropathy in these patients have not previously been described. We present a patient with PDH deficiency with bilateral decreased vision in whom MRI demonstrated bilateral optic neuropathy and chiasmopathy.
Small
Juan E
JE
Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. jsmall1@partners.org
Gonzalez
Guido E
GE
Nagao
Karina E
KE
Walton
David S
DS
Caruso
Paul A
PA
D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009901:Optic Nerve Diseases / Q000175:diagnosis* / Q000209:etiology*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications* / Q000175:diagnosis*; D014786:Vision Disorders / Q000175:diagnosis* / Q000209:etiology*; D055815:Young Adult