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Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?
Garcia-Tarodo, S; Bottani, A; Merlini, L; Kaelin, A; Schwitzgebel, V M; Parvex, P; Dayer, R; Lascombes, P; Korff, C M.
Afiliación
  • Garcia-Tarodo S; Pediatric Neurology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Bottani A; Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Merlini L; Medical Radiology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Kaelin A; Pediatric Orthopedics, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Schwitzgebel VM; Pediatric Endocrinology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Parvex P; Pediatric Nephrology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Dayer R; Pediatric Orthopedics, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Lascombes P; Pediatric Orthopedics, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Korff CM; Pediatric Neurology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland. Electronic address: Christian.Korff@hcuge.ch.
Eur J Paediatr Neurol ; 19(3): 367-71, 2015 May.
Article en En | MEDLINE | ID: mdl-25596067
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Encefalopatías / Calcinosis / Cabello / Enfermedad de Hirschsprung / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2015 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Encefalopatías / Calcinosis / Cabello / Enfermedad de Hirschsprung / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2015 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Reino Unido