title: Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Pediatric Neurology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: S
authors.initials: S
authors.lastname: Garcia-Tarodo
authors.affiliation: Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Bottani
authors.affiliation: Medical Radiology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.affiliation: Pediatric Orthopedics, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Kaelin
authors.affiliation: Pediatric Endocrinology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: V M
authors.initials: VM
authors.lastname: Schwitzgebel
authors.affiliation: Pediatric Nephrology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: P
authors.initials: P
authors.lastname: Parvex
authors.affiliation: Pediatric Orthopedics, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: R
authors.initials: R
authors.lastname: Dayer
authors.affiliation: Pediatric Orthopedics, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: P
authors.initials: P
authors.lastname: Lascombes
authors.affiliation: Pediatric Neurology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland. Electronic address: Christian.Korff@hcuge.ch.
authors.forename: C M
authors.initials: CM
authors.lastname: Korff
mesh_terms: D000293:Adolescent; D001927:Brain Diseases / Q000209:etiology* / Q000473:pathology; D002114:Calcinosis / Q000209:etiology* / Q000473:pathology; D004392:Dwarfism / Q000150:complications / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006197:Hair / Q000002:abnormalities* / Q000473:pathology; D006627:Hirschsprung Disease / Q000150:complications / Q000473:pathology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D010009:Osteochondrodysplasias / Q000150:complications / Q000151:congenital* / Q000473:pathology; D000081207:Primary Immunodeficiency Diseases; D055815:Young Adult
keywords: Anauxetic dysplasia; Basal ganglia calcifications; Cartilage-hair hypoplasia