[Spondylocostal dysostosis and acute cholangitis in pediatrics emergency room].
キーワード
概要
BACKGROUND
Congenital malformations of the chest wall comprise a heterogeneous group of diseases denominated spondylocostal dysostosis. They have in common developmental abnormalities in the morphology of the structures of the chest and vertebrae with a broad characterization: from mild deformity without functional consequences to life-threatening injuries. We present the case of a girl with spondylocostal dysostosis and acute cholangitis.
METHODS
A 13-month-old girl with severe malnutrition, history of hydrocephalus and myelomeningocele at birth was admitted in the emergency pediatric room with fever and progressive respiratory distress. Clinical assessment revealed ribs and vertebral malformations and acute cholangitis.
CONCLUSIONS
Complex rib abnormalities consist in deformities of the chest wall, which do not have a specific pattern and are extremely rare. When they are associated with myelomeningocele and hydrocephalus they may be considered as autosomal recessive inheritance spondylocostal dysostosis. The diagnosis is established by clinical assessment and X-rays. Spondylocostal dysostosis identification and complications related to their genetic and molecular causes are still a challenge for clinical pediatricians and the multidisciplinary medical team who treats these patients throughout lifetime.
