Neonatal Case of Mckusick-Kaufman Syndrome Difficulty of Diagnosis and Management

Abstract

McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive disorder. We report the case of McKusick-Kaufman syndrome in a term female neonate. Antenatal ultrasound found a large cystic abdominal mass corresponding to hydrometrocolpos with bilateral hydronephrosis. This finding was confirmed after birth and its association to polydactyly permitted us to give the diagnosis of MKKS. Exploratory laparotomy revealed vaginal atresia and suspected the association to Hirschprung disease. MKKS is difficult to diagnose antenatally and complementary explorations should be done after birth to establish a definitive diagnosis.