Abstract
SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain.We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated.
MeSH terms
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Adult
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Arnold-Chiari Malformation* / complications
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Arnold-Chiari Malformation* / diagnosis
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Arnold-Chiari Malformation* / physiopathology
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Arnold-Chiari Malformation* / surgery
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Cervical Vertebrae* / abnormalities
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Cervical Vertebrae* / diagnostic imaging
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Cervical Vertebrae* / surgery
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Decompression, Surgical / methods*
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Foramen Magnum* / abnormalities
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Foramen Magnum* / diagnostic imaging
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Foramen Magnum* / surgery
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Humans
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Magnetic Resonance Imaging / methods
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Male
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Osteochondrodysplasias* / diagnosis
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Osteochondrodysplasias* / physiopathology
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Osteochondrodysplasias* / surgery
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Radiography / methods
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Spinal Cord* / abnormalities
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Spinal Cord* / diagnostic imaging
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Spinal Cord* / surgery
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Syringomyelia* / diagnosis
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Syringomyelia* / physiopathology
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Syringomyelia* / surgery
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Treatment Outcome
Supplementary concepts
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Spondyloepimetaphyseal dysplasia, sponastrime type