Intracranial calcifications and dyskeratosis congenita.
We describe two brothers with dyskeratosis congenita and intracranial calcifications. The calcifications were massive, approximately symmetric, and showed a predilection for the basal ganglia and dentate nuclei. No underlying causes for this finding were identified. Idiopathic familial intracranial calcification of this type has been described, but an association with dyskeratosis congenita has not previously been observed.
D000293:Adolescent; D001480:Basal Ganglia Diseases / Q000150:complications; D001927:Brain Diseases / Q000150:complications*; D002114:Calcinosis / Q000150:complications* / Q000473:pathology; D006801:Humans; D007223:Infant; D007642:Keratosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male