Distrofia torácica asfixiante, o síndrome de Jeune, asociada a una malformación espinal cervical

espanolLa distrofia toracica asfixiante, o sindrome de Jeune, es una displasia osea de herencia autosomica recesiva, con expresion fenotipica variable. El diagnostico es fundamentalmente clinico y radiologico. Se caracteriza por la presencia de un torax estrecho y acampanado, polidactilia, costillas horizontalizadas y huesos iliacos cortos, con una alteracion tipica del techo acetabular en tridente, y suele asociar otras complicaciones: nefrocalcinosis, hepatopatia colestasica, anomalias pancreaticas y retinianas. La distrofia toracica produce hipoplasia pulmonar secundaria e insuficiencia respiratoria restrictiva que puede ser mortal en etapas precoces de la vida. Aunque la existencia de malformaciones espinales no es un hallazgo frecuente, en este caso, el paciente presentaba una malformacion de C1 que producia compresion medular. Se realizo una descompresion quirurgica y, posteriormente, la evolucion del paciente ha sido muy favorable. Concluimos que debe realizarse siempre el cribado de malformaciones espinales en pacientes afectados de este sindrome, ya que su tratamiento puede contribuir significativamente a mejorar su pronostico y calidad de vida. EnglishAsphyxiating thoracic dystrophy-Jeune syndrome is an autosomal recessive disease. It is part of a group of skeletal dysplasias with great clinical variability. Diagnosis is based on clinical and radiographic findings: the syndrome is characterized by a small, narrow chest, variable limb shortness, postaxial polydactyl, horizontally oriented ribs, and short iliac bones with a typical trident appearance of the acetabula. Renal, hepatic, pancreatic and ocular complications may occur later in life. As result of the thoracic dystrophy a lung hypoplasia is produced and a lethal respiratory distress during neonatal and infancy period may occur as well as multiple respiratory infections. Despite spine malformations are not frequently associated, we present a patient who had C1 malformation with cord compression. Surgical cord decompression was done and probably was determinant in his course. We concluded that the screening of spinal malformation in these patients should be always done because it treatment could improve their prognosis and quality of life.