Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia – Anauxetic dysplasia spectrum disorder: A coincidental finding?. (May 2015)

• Record Type: Journal Article
• Authors: Garcia-Tarodo, S.; Bottani, A.; Merlini, L.; Kaelin, A.; Schwitzgebel, V.M.; Parvex, P.; Dayer, R.; Lascombes, P.; Korff, C.M.
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 3(2015:May)
• Page Start: 367
• Page End: 371
• Publication Date: 2015-05
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2014.12.016
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Abstract</title> <sec> <title id="sectitle0010e">Background/purpose</title> <p id="abspara0010t">Intracranial calcifications have been identified in many neurological disorders. To our knowledge, however, such findings have not been described in cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders (CHH-AD), a group of conditions characterized by a wide spectrum of clinical manifestations.</p> </sec> <sec> <title id="sectitle0015e">Methods/results</title> <p id="abspara0015r">We report a 22-year old female patient, diagnosed with this disorder during her first year of life, and in whom bilateral intracranial calcifications (frontal lobes, basal ganglia, cerebellar dentate nuclei) were discovered by brain MRI at the age of 17 years.</p> </sec> <sec> <title id="sectitle0020j">Conclusion</title> <p id="abspara0020t">The etiology of this finding remains unclear. Some causes of such deposits can be of a reversible nature, thus prompting early recognition although their consequences on clinical outcome remain mostly unknown.</p> </sec> </abstract>