LAUSR

Background Sirenomelia or mermaid syndrome is an extremely rare congenital disorder involving the lower spine and lower limbs. Although usually fatal in the newborn period, survival in a handful of cases beyond infancy have been reported. We would like to present a new born with sirenomelia and multiple anomalies brought in to our hospital soon after birth. Case report A 40 year old Romanian lady G 17, P 16, Ab 0, known diabetic poorly controlled on insulin, delivered at 38 weeks gestation in an ambulance en route to the hospital. On arrival, she was taken directly to the labor ward with ongoing resuscitation efforts with bag and mask and CPR carried out by the paramedics. The baby was noted to be cyanosed and in respiratory distress. Severe congenital abnormalities were obvious and included flattened dysmorphic features, low set malformed ears, upward slanting palpebral fissures, flattened nose, receding chin, short neck, small thoracic cage, ambiguous genitalia, absent anal opening and fused lower limbs. The feet however, were separate. The mother was originally booked in a tertiary referral center where she had undergone antenatal scanning and was counselled on the poor prognosis due to multiple abnormalities detected including but not limited to anhydramnios (that could result in pulmonary hypoplasia), absent left kidney, right cystic dysplastic kidney and cardiac malformation. When the mother was brought in by ambulance into our hospital, we were not aware of the management plan. The baby was therefore intubated and started on positive pressure ventilation as per the protocol. Shortly after, we realized futility after resuscitation became obvious. We received more information regarding the poor prognosis and consequently, extubated the baby at 18 minutes of life and handed over the baby to the mother for comfort care. Genetic blood tests for microarray and karotyping were carried out and revealed female karyotype with normal microarray. Her skeletal survey was requested which showed caudal regression and absence of vertebras after S1, malformed pelvis and soft tissue fusion of both lower limbs, however feet were separated. Conclusion Sirenomelia is an extremely rare and usually fatal congenital malformation. Maternal diabetes, smoking and heavy metal exposure have been implicated as possible etiologies. Therefore, in our opinion poor glycemic control prior to conception and during gestation (especially during the first trimester) could have contributed to this condition.