title: [Achondroplasia with respiratory disturbance: case report].
abstract: Achondroplasia often accompanies stenosis of both the foramen magnum and the upper cervical spinal canal. Most infants die as a result of respiratory disturbance, including upper airway obstruction, chest deformity, and compression of the cervicomedullary junction. Especially, young patients under 4 years old sometimes suffered sudden death. Therefore, we think it is necessary to perform preventive surgery when the patient's cervicomedullary junction is compressed markedly even if the symptom is mild. The patient is a 2-year-old girl. She has experienced mild respiratory disturbance since she was born. MRI showed the foramen magnum was narrowed and there was high signal intensity in her cervicomedullary junction. We performed foramen magnum decompression. After the surgery, her respiratory function improved and MRI disclosed her foramen magnum was well decompressed.
authors.affiliation: Department of Neurological Surgery, Hokkaido Unversity Graduate School of Medicine, Japan.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Yano
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Seki
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Hida
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Iwasaki
mesh_terms: D000130:Achondroplasia / Q000150:complications*; D002675:Child, Preschool; D019299:Decompression, Surgical; D005260:Female; D005539:Foramen Magnum / Q000473:pathology / Q000601:surgery*; D006801:Humans; D012131:Respiratory Insufficiency / Q000209:etiology*