Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report

Medicine (Baltimore). 2016 May;95(18):e3155. doi: 10.1097/MD.0000000000003155.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arnold-Chiari Malformation* / complications
  • Arnold-Chiari Malformation* / diagnosis
  • Arnold-Chiari Malformation* / physiopathology
  • Arnold-Chiari Malformation* / surgery
  • Cervical Vertebrae* / abnormalities
  • Cervical Vertebrae* / diagnostic imaging
  • Cervical Vertebrae* / surgery
  • Decompression, Surgical / methods*
  • Foramen Magnum* / abnormalities
  • Foramen Magnum* / diagnostic imaging
  • Foramen Magnum* / surgery
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / physiopathology
  • Osteochondrodysplasias* / surgery
  • Radiography / methods
  • Spinal Cord* / abnormalities
  • Spinal Cord* / diagnostic imaging
  • Spinal Cord* / surgery
  • Syringomyelia* / diagnosis
  • Syringomyelia* / physiopathology
  • Syringomyelia* / surgery
  • Treatment Outcome

Supplementary concepts

  • Spondyloepimetaphyseal dysplasia, sponastrime type