Three sisters with Chiari I malformation with and without associated syringomyelia.
Pediatr Neurosurg
; 43(6): 533-8, 2007.
Article
en En
| MEDLINE
| ID: mdl-17992048
ABSTRACT
Two daughters of non-consanguineous Ashkenazi Jewish parentage presented with occipital headaches in the second decade of life. Each had a symptomatic Chiari I malformation (CMI) and a large cervicothoracic syrinx. A third sister was diagnosed as having CMI without syrinx after MR screening of first-degree relatives. A fourth (the eldest) sister was asymptomatic and did not have CMI or syrinx. The girls' mother had platybasia on screening MR and a history of cough headaches. All four sisters also had demonstrable platybasic features on MR. The girls' father was asymptomatic and radiologically normal. This family represents the first reported case of three siblings in one family with confirmed CMI with or without syrinx. We discuss the possible genetic and mechanical mechanisms for the development of these abnormalities in this family.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Malformación de Arnold-Chiari
/
Siringomielia
/
Hermanos
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Neurosurg
Asunto de la revista:
NEUROCIRURGIA
/
PEDIATRIA
Año:
2007
Tipo del documento:
Article
País de afiliación:
Reino Unido