Subscribe to RSS
DOI: 10.1055/s-2008-1038536
© Georg Thieme Verlag KG Stuttgart · New York
Chiari Malformation Caused by Craniometaphyseal Dysplasia: Case Report and Review of Literature
Publication History
received December 6, 2007
accepted after revision February 12, 2008
Publication Date:
21 May 2008 (online)
![](https://www.thieme-connect.de/media/ejps/200803/lookinside/thumbnails/10.1055-s-2008-1038536-1.jpg)
Abstract
Chiari malformation is commonly considered a congenital condition. To our knowledge, reports of progressively symptomatic Chiari Ι malformation with craniometaphyseal dysplasia are rare. The authors present a case of progressively symptomatic Chiari Ι malformation occurring in an 11-month-old infant with craniometaphyseal dysplasia. The patient presented with a typical facial appearance and radiological skeletal survey. Posterior fossa decompression was performed. In the meantime, the patient was given Rocaltrol® (calcitriol) and adopted a low calcium diet. His neurological symptoms were markedly improved after surgery. The clinical presentations, radiographical features and prognosis of the patient are discussed with reference to the literature.
Key words
Chiari malformation - bone dysplasia - craniometaphyseal dysplasia - posterior fossa decompression
References
- 1 Ahmad F U, Mahapatra A K, Mahajan H. Craniofacial surgery for craniometaphyseal dysplasia. Neurol India. 2006; 54 97-99
- 2 Alden T D, Ojemann J G, Park T S. Surgical treatment of Chiari I malformation: indication and approaches. Neurosurg Focus. 2001; 11 1-5
- 3 Cheung V G, Boechat M I, Barrett C T. Bilateral choanal narrowing as a presentation of craniometaphyseal dysplasia. J Perinatol. 1997; 17 241-243
- 4 Chiari H. Über Veränderungen des Kleinhirns infolge von Hydrocephalie des Grosshirns. Dtsch med Wschr. 1891; 17 1172-1175
- 5 Day R A, Park T S, Ojemann J G, Kaufman B A. Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report. Neurosurgery. 1997; 41 960-964
- 6 Franz D C, Horn K L, Aase J. Craniometaphyseal dysplasia: operative findings and treatment. Am J Otol. 1996; 17 283-287
- 7 Goncalves da Silva J A, de Almeida Holanda M M, do Desterro Leiros M. et al . Basilar impression associated with impacted cisterna magna, spastic paraparesis and distress of balance: case report. Arq Neuropsiquiatr. 2006; 64 668-671
- 8 Iughetti P, Alonso L G, Wilcox W, Alonso N, Passos-Bueno M R. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet. 2000; 95 482-491
- 9 Jackson W P, Albright F, Drewry G, Hanelin J, Rubin M I. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling. AMA Arch Intern Med. 1954; 94 871-885
- 10 Kim Y H, Roh D H, Choi B Y, Oh S H. Craniometaphyseal dysplasia. Acta Otolaryngol. 2005; 125 797-800
- 11 Kulkarni M L, Marakkanavar S N, Sushanth S, Pradeep N, Ashok C, Balaji M D. et al . Osteopetrosis with Arnold Chiari malformation type I and brain stem compression. Indian J Pediatr. 2007; 74 412-415
- 12 Martínez-Lage J F, Almagro M J, Ros de San Pedro J, Ruiz-Espejo A, Felipe-Murcia M. Regression of syringomyelia and tonsillar herniation after posterior fossa arachnoid cyst excision. Case report and literature review. Neurocirugia (Astur). 2007; 18 227-231
- 13 Oldfield E H, Muraszko K, Shawker T H, Patronas N J. Pathophysiology of syringomyelia associated with Chiari I malformation of the cerebellar tonsils. Implications for diagnosis and treatment. J Neurosurg. 1994; 80 3-15
- 14 Payner T D, Prenger E, Berger T S, Crone K R. Acquired Chiari malformations: incidence, diagnosis, and management. Neurosurgery. 1994; 34 429-434
- 15 Puliafito C A, Wray S H, Murray J E, Boger 3rd W P. Optic atrophy and visual loss in craniometaphyseal dysplasia. Am J Ophthalmol. 1981; 92 696-701
- 16 Puri P, Chan J. Craniometaphyseal dysplasia: ophthalmic features and management. J Pediatr Ophthalmol Strabismus. 2003; 40 228-231
- 17 Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C. et al . Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001; 68 1321-1326
- 18 Richards A, Brain C, Dillon M J, Bailey C M. Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. J Laryngol Otol. 1996; 110 328-338
- 19 Satoh K, Iwata T, Ikeda H. Unsuccessful consequence of optic canal decompression for a case of craniometaphyseal dysplasia. Plast Reconstr Surg. 1994; 94 705-708
- 20 Sheppard W M, Shprintzen R J, Tatum S A, Woods C I. Craniometaphyseal dysplasia: a case report and review of medical and surgical management. Int J Pediatr Otorhinolaryngol. 2003; 67 687-693
Prof. Changhong Shen
Department of Neurosurgery
General Hospital of Tianjin Medical University
No. 54, Anshan Road, Heping District
300052 Tianjin
China
Email: tjpns@yahoo.com.cn