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Published byGwendolyn Cook Modified over 9 years ago
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A 20-year-old short statured male with skin lesions and brisk reflexes Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology
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Vignette A 20-year-old short-statured male presented with multiple hyper pigmented photosensitive lesions over the face and keratitis of the eyes Apart from hyperactive tendon reflexes, neurological examination was normal Other family members were normal Amalnath, et al. © 2014 American Academy of Neurology
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Imaging Amalnath, et al. © 2014 American Academy of Neurology
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Intracranial calcification in Cockayne syndrome CS is an autosomal recessive disorder due to impaired DNA repair mechanisms involving the genes ERCC6 and ERCC8 Clinical features include growth retardation, photosensitivity, intracranial calcification, retinal degeneration and deafness Common causes of basal ganglia calcification include Idiopathic (Fahr syndrome), (pseudo)hypoparathyroidism, age related, toxoplasmosis, carbon monoxide poisoning Rare causes include CS, Aicardi-Goutières syndrome Nasu Hakola syndrome, Labrune syndrome, Coats plus syndrome, Urbach-Wiethe disease, Biotinidase deficiency, Krabbe disease, Carbonic anhydrase II deficiency, Dihydropteridine reductase deficiency Amalnath et al. © 2014 American Academy of Neurology
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