Document Detail

Osteopetrosis with Chiari I malformation: presentation and surgical management.
MedLine Citation:
PMID:  21456907     Owner:  NLM     Status:  In-Data-Review    
Osteopetrosis is a heterogeneous group of rare, inherited disorders of the skeleton that results in neurological manifestations due to restriction of growth of cranial foramina and calvarial thickening. A 25-year-old woman with a history of autosomal dominant osteopetrosis presented to the authors' institution with headache worsened by exertion and radiating from the occipital region forward with episodes of choking/coughing when eating and a loss of gag reflex on physical examination. On MR imaging, she was found to have severe posterior fossa calvarial thickening resulting in a small posterior fossa and tonsillar ectopia of 9 mm and compression and deformation of the brainstem. She underwent posterior fossa craniectomy, foramen magnum decompression, and partial C-1 laminectomy with external durotomy. The patient did well postoperatively with resolution of symptoms. This case describes a new neurological manifestation of autosomal dominant osteopetrosis. To the authors' knowledge, this report represents the first described case of extreme posterior fossa calvarial thickening from autosomal dominant osteopetrosis with associated Chiari I malformation (CM-I) requiring posterior fossa decompression and extradural decompression. Given previously published MR imaging data that demonstrate the association of osteopetrosis and CM may be more common than in this case alone, the authors discuss the need for further investigation of the incidence of CM-I in patients with autosomal dominant osteopetrosis. Additionally, they review osteopetrosis and other diagnoses of calvarial hyperostosis presenting as CM-I.
Brian J Dlouhy; Arnold H Menezes
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of neurosurgery. Pediatrics     Volume:  7     ISSN:  1933-0715     ISO Abbreviation:  J Neurosurg Pediatr     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-04-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101463759     Medline TA:  J Neurosurg Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  369-74     Citation Subset:  IM    
Department of Neurosurgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa.
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