| Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. | |
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MedLine Citation:
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PMID: 20186072 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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There seems to be an association between type 1 Chiari malformation (CM) and some congenital craniosynostosis syndromes. Type 2 Pfeiffer syndrome is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatschädel deformity), prominent ptosis, thumb and first toe abnormalities, variable syndactyly, and mutated genes for type 1 or 2 fibroblast growth factor receptor. These children generally do poorly because of significant often severe neurologic and cognitive defects, and many die very young. Roughly half of all patients with Pfeiffer syndrome, and virtually all with type 2 disease, also have type 1 CM. Chiari malformation may not be congenital but acquired as a consequence of the skull deformities and other associated intracranial factors in patients with craniosynostosis. We report a term male infant with type 2 Pfeiffer syndrome, who was not noted to have any CM on initial brain imaging done at 2 months but in whom repeated imaging demonstrated clear evidence of CM by 4 months, despite reconstructive craniotomies and unilateral ventriculoperitoneal shunt insertion. Posterior fossa decompression yielded a good result. This patient provides further evidence to support the concept of acquired tonsillar herniation in patients with craniosynostosis syndromes. The etiology seems multifactorial and related to (1) the disproportionately slow growth of the skull relative to the brain, particularly in the posterior fossa, secondary to early fusion of skull sutures, in turn secondary to congenital deficiencies in fibroblast growth factor receptors; (2) impaired venous sinus drainage; (3) hydrocephalus; and (4) resultant elevations in intracranial pressure. |
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Authors:
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Adrianna Ranger; Ali Al-Hayek; Damir Matic |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Journal of craniofacial surgery Volume: 21 ISSN: 1536-3732 ISO Abbreviation: J Craniofac Surg Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-05-21 Completed Date: 2010-09-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9010410 Medline TA: J Craniofac Surg Country: United States |
Other Details:
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Languages: eng Pagination: 427-31 Citation Subset: D |
Affiliation:
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Pediatric Neurosurgery, Department of Clinical Neurological Sciences, Children's Hospital London Health Sciences Center, London, Ontario, Canada. aranger@uwo.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
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complications*,
surgery Arnold-Chiari Malformation / etiology*, surgery Cranial Fossa, Posterior / surgery Cranial Sinuses / physiopathology Craniotomy / methods Decompression, Surgical Encephalocele / etiology, surgery Follow-Up Studies Humans Hydrocephalus / etiology Infant Intracranial Hypertension / etiology Male Receptor, Fibroblast Growth Factor, Type 2 / genetics Reconstructive Surgical Procedures / methods Ventriculoperitoneal Shunt |
| Chemical | |
Reg. No./Substance:
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EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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