Anaesthetic management in McKusick-Kaufman syndrome

The cardinal features of McKusick-Kaufman syndrome (MKS) are polydactyly and hydrometrocolpos. Sometimes, this abdominopelvic mass may restrict pulmonary function and decrease the oxygenation of the newborn. We present a case of MKS and review the clinical features and appropriate anaesthetic management. A 45-day-old girl, weighing 4450 g, born at term, presented to our Paediatric Surgery Department with abdominal distention, diarrhoea and vomiting, which started on the 15th day of life. On physical examination, peripheral cyanosis, tachycardia and tachypnoea were found. A prominent mass was palpated in the lower abdomen. There was vaginal atresia and a sixth digit was found on her left foot. There was a large cystic mass extending from the pelvis to the level of L1 displacing the diaphragm, and bilateral hydroureteronephrosis were seen on plain abdominal X-ray, ultrasonography and computerized tomography. In the preanaesthetic assessment, the patient was evaluated for multiple congenital anomalies. Our management of anaesthesia, for a neonate with severe hydrometrocolpos compressing the diaphragm, consisted of gastric decompression and preoxygenation before tracheal intubation, routine and airway pressure monitoring, periodic analyses of blood gases and maintenance of anaesthesia with a low concentration of volatile agent, together with an opioid.