Teaching Neuro Images Neurology Resident and Fellow Section 2014 American Academy of Neurology Vignette A 20yearold shortstatured male presented with multiple hyper pigmented photosensitive lesions over the face and keratitis of the ID: 784646
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Slide1
A 20-year-old short statured male with skin lesions and brisk reflexes
Teaching NeuroImagesNeurologyResident and Fellow Section
© 2014 American Academy of Neurology
Slide2Vignette
A 20-year-old short-statured male presented with multiple hyper pigmented photosensitive lesions over the face and keratitis of the eyesApart from hyperactive tendon reflexes, neurological examination was normalOther family members were normal
Amalnath , et al.
©
2014
American Academy of Neurology
Slide3Imaging
Amalnath, et al.
© 2014 American Academy of Neurology
Slide4Intracranial calcification in Cockayne syndrome
CS is an autosomal recessive disorder due to impaired DNA repair mechanisms involving the genes ERCC6 and ERCC8Clinical features include growth retardation, photosensitivity, intracranial calcification, retinal degeneration and deafnessCommon causes of basal ganglia calcification include Idiopathic (
Fahr syndrome), (pseudo)hypoparathyroidism, age related, toxoplasmosis, carbon monoxide poisoningRare 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