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

Abstract Background/purpose 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...

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Bibliographic Details
Published in:European journal of paediatric neurology 2015-05, Vol.19 (3), p.367-371
Main Authors: Garcia-Tarodo, S, Bottani, A, Merlini, L, Kaelin, A, Schwitzgebel, V.M, Parvex, P, Dayer, R, Lascombes, P, Korff, C.M
Format: Article
Language:English
Subjects:
Adolescent
Anauxetic dysplasia
Basal ganglia calcifications
Brain Diseases - etiology
Brain Diseases - pathology
Calcinosis - etiology
Calcinosis - pathology
Cartilage-hair hypoplasia
Dwarfism - complications
Dwarfism - pathology
Female
Follow-Up Studies
Hair - abnormalities
Hair - pathology
Hirschsprung Disease - complications
Hirschsprung Disease - pathology
Human health and pathology
Humans
Immunologic Deficiency Syndromes - complications
Immunologic Deficiency Syndromes - pathology
Life Sciences
Magnetic Resonance Imaging
Neurology
Osteochondrodysplasias - complications
Osteochondrodysplasias - congenital
Osteochondrodysplasias - pathology
Pediatrics
Young Adult
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Summary:Abstract Background/purpose 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. Methods/results 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. Conclusion 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.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2014.12.016