title: Fatal broncho-pneumonia of an infant with arthrogryposis multiplex congenita (AMC).
abstract: Arthrogryposis multiplex congenita (AMC) is a heterogenous group of disorders characterized by multiple joint contractures with an estimated frequency of 1 in 3000-5100 livebirths. The authors present a case of an 11-month-old infant with AMC who died due to severe pneumonia. The deceased had no significant anomaly except for the stated orthpaediatric deformities, and the long-term outcome was expected to be positive. The only remarkable past medical history was respiratory syncytial virus (RS) infection at 6-months old which had taken a few days for a complete recovery. Onset of high fever was observed 3 days prior to her death and she was found in a state of cardiopulmonary arrest in bed by her father in an early morning. Forensic autopsy confirmed the pathohistological diagnosis of severe broncho-pneumonia. The presence of scoliosis and funnel chest was considered to be attributable to the disability to turn herself over and excrete sputum sufficiently, leading to a fatal respiratory complication. This paper stresses the possibility of distal arthrogryposis type of AMC becoming contributory to death despite the initial optimistic prognosis, as well as the importance of postmortem investigation in unexpected fatal cases.
authors.affiliation: Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, 4-21-18 Otsuka, Bunkyo-ku, Tokyo 112-0012, Japan. Electronic address: hikiji@kyudai.jp.
authors.forename: Wakako
authors.initials: W
authors.lastname: Hikiji
authors.affiliation: Tokyo Medical Examiner's Office, Tokyo Metropolitan Government, 4-21-18 Otsuka, Bunkyo-ku, Tokyo 112-0012, Japan.
authors.forename: Tatsushige
authors.initials: T
authors.lastname: Fukunaga
mesh_terms: D001176:Arthrogryposis / Q000150:complications*; D001344:Autopsy; D001996:Bronchopneumonia / Q000209:etiology / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D012600:Scoliosis / Q000150:complications
keywords: Anomaly; Arthrogryposis multiplex congenita; Autopsy; Funnel chest; Pneumonia; Scoliosis