Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome).
Computed tomography (CT) in patients with oculocraniosomatic disease (OCSD) or Kearns-Sayre syndrome has not been previously reported to the authors' knowledge. CT scans were performed in 6 children and 3 adults with OCSD. Abnormalities in children included: intracranial calcifications (4 patients); white matter disease (3 patients); cerebellar hypoplasia (1 patient); and scattered areas of decreased density in the cerebellar hemispheres, mesencephalon, and thalamus (1 patient). CT scans were normal in all adults. OCSD should be considered in the differential diagnosis in patients with intracranial calcification and white matter disease.
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000150:complications; D001480:Basal Ganglia Diseases / Q000150:complications / Q000000981:diagnostic imaging; D001927:Brain Diseases / Q000150:complications / Q000000981:diagnostic imaging*; D002114:Calcinosis / Q000150:complications / Q000000981:diagnostic imaging*; D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006327:Heart Block / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D009886:Ophthalmoplegia / Q000150:complications* / Q000000981:diagnostic imaging; D011547:Pseudohypoparathyroidism / Q000150:complications / Q000000981:diagnostic imaging; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000000981:diagnostic imaging; D013577:Syndrome; D013788:Thalamus / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed