Polymelia with Associated Anomalies in a Newborn

A term, female baby, third in birth order, was delivered by lower segment cesarean section, in a tertiary care government hospital, to a non-consanguineously married, multigravida mother. The baby cried immediately after birth and was found to have two upper limbs and four lower limbs [Figure 1]. The mother was an unbooked case and had not received any routine antenatal care or vaccinations. The baby was admitted in special newborn care unit in view of respiratory distress along with multiple congenital anomalies. No antenatal scans and records were available. The mother had previous two alive and healthy children.Figure 1: Child born with normally developed four limbs and one pair of extra limbs through left buttockOn examination, the baby was euthermic with good cry and activity, having a weight of 3.1 kg, length of 47 cm, and head circumference of 35 cm. She was tachypneic with a respiratory rate of 76/min, heart rate of 150/min, with central cyanosis (Spo2 86% at room air) with subcostal retractions. There was no facial dysmorphism. The abdomen was soft, the liver was palpable 1 cm below the costal margin, and the spleen was not palpable. On auscultation, breath sounds were bilaterally equal, and a continuous murmur was heard, with maximum intensity at the left sternal border. After initial stabilization, the baby was thoroughly examined from head to toe. The head, face, and neck had no apparent dysmorphism, and the upper limbs were normally formed with five digits in both upper limbs. The baby was found to be active with movements present in all the normally developed four limbs, however, with no movement in the extra pair of lower limbs. This extra pair originated from the left buttock of the baby. Both the extra lower limbs had all the usual parts such as thigh, knee, leg, and foot with fully developed digits and nails. They had palpable femur, tibia, and fibula. Reflexes were not elicitable in these extra pairs of limbs but were present in the normally developed lower limbs with extensor plantar response. The baby had a normally placed urethral, vaginal, and anal opening. In addition, there was a rudimentary introitus between the extra pair of lower limbs the sex of which could not be determined, and a closed rudimentary anus in the form of a dimple [Figure 2a]. The baby also had a small meningomyelocele arising from the sacral area in the back [Figure 2b].Figure 2: (a) Rudimentary introitus in between extra pair of limbs along with anal dimple, (b) Small myelomeningocele from the back of the childRoutine investigations showed a hemoglobin of 13.6 g/dl, total count of 16,000 cumm, with neutrophil 50%, lymphocytes 45%, and platelets 1.1 lakhs/mm3, blood urea was 34 mg%, serum creatinine was 0.94 mg%, sodium 140.8 mEq/L, potassium 4.65 mEq/L, bilirubin (total) of 5.78 mg%, and blood sugar of 108 mg%. X-ray of the chest, abdomen, and lower limbs [Figure 3] showed scoliosis in the dorsal spine with convexity toward the left side and multiple ribs on the right side appearing hypoplastic. All four lower limbs showed well-formed femur, tibia, and fibula, but each foot of the extra pair of limbs had one tarsal bone. Ultrasound abdomen showed an empty right renal fossa with the right kidney (measuring 4.6 cm × 2.3 cm) seen in the umbilical region toward the right side with hilum facing anteriorly suggestive of ectopic malrotated right kidney. The left kidney measuring 4.6 cm × 2.3 cm in size was normal in position and echotexture. Urinary bladder, liver along with intrahepatic portal channels, portal vein, common bile duct, and spleen were normal. A two-dimensional echocardiography showed acyanotic congenital heart disease with ostium secundum atrial septal defect (8 mm) with left-to-right shunt, apical muscular ventral septal defect (3 mm) with the left-to-right shunt with peak gradient of 42 mmHg, and a patent ductus arteriosus of 3 mm with the left-to-right shunt. The superior vena cava drained into the right atrium, with atrioventricular and ventriculoarterial concordance.Figure 3: X-ray of chest, abdomen, and limbsThe baby needed oxygen support with continuous positive airway pressure due to nonresolving respiratory distress primarily due to malformed ribs, reduced right lung volume due to right-sided pulmonary hypoplasia, and increased cardiac load. Surgical intervention was planned to remove the extra pair of limbs by following the twin–twin separation surgery protocol for ischiopagus twins after stabilization of the patient at 6 weeks of age. However, the patient needed mechanical ventilation for worsening respiratory distress, and eventually developed progressive ventilator-associated pneumonia with sepsis and succumbed to the infection. Autopsy was not done as consent was declined by the parents. Polymelia is a form of congenital limb defect, extremely rare in humans. In this condition, the affected patient has more than the usual number of limbs. Based on the attachment site of the extra limb, it can be classified as cephalomelia (extra limb attached to the head), thoracomelia (attached to the thorax), notomelia (attached to the backbone), and pyromelia (attached to the pelvis).[1] The occurrence of polymelia has been reported in multiple publications, in which the extra limb is usually incomplete.[2-5] The possible factors responsible for limb defects include genetic factors (extensively studied in animals, but less known in humans), antenatal infections, toxins such as thalidomide and progesterone, and in vitro fertilization techniques.[1] Sometimes, one of a conjoined twin degenerates, leaving behind residual limbs attached to the surviving twin resulting in supernumerary limbs.[1] Similar to our case, Krishna and Lal found no antenatal insult in the nine cases with accessory limbs.[3] The association of accessory limbs with spinal dysraphism has been reported.[6] Other anomalies known to be associated with polymelia include rudimentary external genitalia, ectopic intestinal loops, anorectal agenesis, and rectovestibular fistula. Most of the cases reported in the literature were females, born at term.[3] Such limb defects can be identified during antenatal ultrasound scans. Treatment of such cases requires surgery. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.