Acquired Chiari malformation secondary to hyperostosis of the skull: a case report and literature review

Albert, Ladislau; Hirschfeld, Alan

doi:10.1016/j.surneu.2008.02.030

Cited by 19 publications

(16 citation statements)

References 12 publications

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“…240,241 Diaphyseal dysplasia, Camurati-Engelmann (OMIM: 131300) General information: Rare, autosomal dominant disorder of bone formation. 242 Somatic findings: Exophthalmos, limb pain, muscular weakness, waddling gait, and easy fatigability. 242 Skeleton: Symmetrical, fusiform hyperostosis and sclerosis of the long bones with cortical thickening of the metaphyses and diaphysis, sparing the epiphyses.…”

Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 99%

“…242 Somatic findings: Exophthalmos, limb pain, muscular weakness, waddling gait, and easy fatigability. 242 Skeleton: Symmetrical, fusiform hyperostosis and sclerosis of the long bones with cortical thickening of the metaphyses and diaphysis, sparing the epiphyses. 243 Axial skeleton and cranial vault may also be involved with skull base sclerosis.…”

Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 99%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 99%

Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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“…9,30 Posterior fossa decompressions were performed in both cases. Other hyperostotic disorders 5 have been associated with CM-I and include Camurati-Engelmann disease (progressive diaphysial dysplasia), 25 Worth-type endosteal hyperostosis (autosomal dominant osteosclerosis), 1 and sclerosteosis. 10 There are some patients with hyperostosis that are unable to be classified or receive a specific diagnosis who have acquired CM-I.…”

Section: Hyperostotic Conditions and Cm-imentioning

confidence: 99%

“…10 There are some patients with hyperostosis that are unable to be classified or receive a specific diagnosis who have acquired CM-I. 5 Surgical Management of CM-I All patients with CM-I are treated on an individual basis. 14,21 If a patient presents with tonsillar herniation and signs/symptoms consistent with CM-I, a posterior fossa decompression is performed, usually with a partial C-1 laminectomy and extradural durotomy.…”

Section: Hyperostotic Conditions and Cm-imentioning

confidence: 99%

Osteopetrosis with Chiari I malformation: presentation and surgical management

Dlouhy¹,

Menezes²

2011

PED

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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.

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“…Cranial base deformities are a known complication of metabolic bone diseases, and may rarely result in life‐threatening compression of the cerebellum and spinal cord. Secondary basilar invagination (BI) arises when bony weakness permits distortion of the craniovertebral junction, resulting in rostral malpositioning of the cervical spine . This displacement may occur in association with Chiari I malformation (CM1), a hindbrain deformity characterized by displacement of the cerebellar tonsils into the spinal canal.…”

Section: Introductionmentioning

confidence: 99%

Chiari I Malformation and Basilar Invagination in Fibrous Dysplasia: Prevalence, Mechanisms, and Clinical Implications

Pan

Heiss

Brown

et al. 2018

Journal of Bone and Mineral Research

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Fibrous dysplasia (FD) is a mosaic disorder of benign fibro-osseous lesions, which may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Cranial base abnormalities, including Chiari I malformation (CM1), in which the cerebellum extends below the foramen magnum, and secondary basilar invagination (BI), in which the odontoid prolapses into the posterior cranial fossa, are potentially serious complications of metabolic bone disorders. The purpose of this study was to determine the prevalence, natural history, and risk factors for CM1 and BI in patients with FD/MAS, and to determine mechanisms of cranial base deformities. Clinical and radiographic data from subjects in an FD/MAS natural history study were evaluated and compared to normal controls. In 158 patients with craniofacial FD, 10 (6.3%) cases of CM1 and 12 (7.6%) cases of BI were diagnosed. No cranial base abnormalities were identified in 10 control subjects. Craniomorphometric and volumetric analyses identified cranial constriction and cranial settling as the primary mechanisms of cranial base abnormalities, whereas intracranial hypertension was a contributing factor in a minority of subjects. Longitudinal analyses found progression of odontoid position with age, but no progression of tonsillar position. No endocrinopathies were associated with CM1. MAS endocrinopathies associated with BI included hyperthyroidism (odds ratio [OR] 12.0; 95% confidence interval [CI], 2.9 to 55.6; p < 0.01), precocious puberty (OR 5.6; 95% CI, 1.2 to 26.0; p < 0.05), and hypophosphatemia (OR 7.7; 95% CI, 1.9 to 27.0; p < 0.01). Scoliosis was associated with both CM1 (OR 4.8; 95% CI, 1.1 to 22.8; p < 0.05) and BI (OR = infinity; 95% CI, 4.7 to infinity; p < 0.01). This study successfully characterized cranial base abnormalities in FD/MAS and the pathophysiological connection between them. These findings support routine screening for cranial base abnormalities in patients with craniofacial FD, as well as aggressive management of contributory risk factors. © 2018 American Society for Bone and Mineral Research.

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Acquired Chiari malformation secondary to hyperostosis of the skull: a case report and literature review

Cited by 19 publications

References 12 publications

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Osteopetrosis with Chiari I malformation: presentation and surgical management

Chiari I Malformation and Basilar Invagination in Fibrous Dysplasia: Prevalence, Mechanisms, and Clinical Implications

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