title: Intracranial hypertension in two cases of craniometaphyseal dysplasia: differing surgical options.
abstract: Craniometaphyseal dysplasia (CMD) is a very rare bone disorder characterized by abnormally developed metaphyses in long bones and sclerosis of the craniofacial bones. In this paper, the authors report 2 cases of children diagnosed with CMD and chronic intracranial hypertension with deletion in exon 9 of the human ANK gene (ANKH). After intracranial monitoring, a different treatment was chosen for each patient. One of the patients was treated using CSF shunting because ventriculomegaly in the absence of a Chiari malformation was also observed on cerebral MR imaging. The other patient underwent cranial expansion and decompressive craniotomy of the posterior fossa, because ventriculomegaly was excluded after cerebral MR imaging and cervical MR imaging showed a Chiari malformation Type I. The origin of intracranial hypertension in CMD is multifactorial. Previous intracranial pressure monitoring and a thorough understanding of neuroimaging studies are essential to achieve an accurate diagnosis and effective treatment.
authors.affiliation: Pediatric Neurosurgical Unit, Department of Neurosurgery, Hospital Universitario Virgen del Rocío, Seville, Spain. monicargarvia@msn.com
authors.forename: Mónica
authors.initials: M
authors.lastname: Rivero-Garvía
authors.forename: F Javier
authors.initials: FJ
authors.lastname: Márquez-Rivas
authors.forename: Antonia
authors.initials: A
authors.lastname: García-Iglesias
authors.forename: Raquel
authors.initials: R
authors.lastname: Gutiérrez-González
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D002648:Child; D019465:Craniofacial Abnormalities / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D056424:Decompressive Craniectomy / Q000379:methods*; D005260:Female; D006801:Humans; D015576:Hyperostosis / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D006972:Hypertelorism / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D019586:Intracranial Hypertension / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D008297:Male; D011859:Radiography; D019651:Plastic Surgery Procedures / Q000379:methods; D017287:Ventriculoperitoneal Shunt / Q000379:methods*