Case of the Week Archive
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2University of British Columbia, Vancouver, British Columbia, Canada
March 20, 2014
A 19-year-old man with restriction of lateral eye movements since birth and scoliosis
March 3, 2014
An 18-month-old boy born through nonconsanguinous marriage, with uneventful pre- and perinatal history, presents with delayed milestones, spastic quadriparesis, and seizures. Detailed examination revealed dystonia and choreoathetoid movements of upper limbs and spastic quadriparesis.
February 27, 2014
A 10-year-old boy with acute onset of altered mental status, seizure, upper extremity hemiparesis, and generalized non-throbbing headache, plus a five-month history of apathy toward school and sports
February 20, 2014
A 23-year-old man with progressive ataxia and oculomotor apraxia. Clinical examination revealed retinitis pigmentosa and moderate bilateral sensorineural hearing loss. Elevated plasma lactate level on examination.
