Newborn With Multiple Congenital Anomalies

Abstract

He was transferred to our facility for evaluation of multiple congenital anomalies (Figure 1).Neural tube defect, split vertebral column, imperforate anus, double descending thoracic aorta, and absent spleen in a term infant.The actual diagnosis was split notochord syndrome. Meningocele was repaired and physical therapy ordered. Due to absent sacrum and coccyx, parents were informed about the prognosis of their child not being able to ambulate. Colostomy was performed for an imperforate anus. Intestinal duplication cyst was excised. Absent spleen noted during the surgery and decision was made to observe. No invasive cardiac procedures were necessary. Bilateral scrotal hernia was repaired. Post operatively, he faced extubation difficulty, remained on oxygen for weeks, and eventually needed tracheostomy. He developed feeding difficulties after colostomy and needed a g tube. Chromosome analysis revealed 46 XY. Posterior phallic structure is still being evaluated. He was discharged home with tracheostomy, g tube, and endocrinology follow-up for ambiguous genitalia. Anterior micropenis may require testosterone around puberty.Split notochord syndrome is a rare congenital malformation of nervous system involving brain, spinal cord, and vertebral column. Less than 40 cases have been reported in the United States. Vertebral column clefting gives a picture of butterfly vertebra. The cleft usually occurs in the thoracic or lumbar region. It is associated with dorsal neuroenteric fistula in 50% of the cases and imperforate anus in one-third of the cases. Split notochord syndrome occurs due to failure of fusion of the lateral ossifications centers of the vertebrae. The defect appears before the embryo is 63 mm. The terminal, dorsal part of the enteric fistula, which is produced between the endoderm and the ectoderm through a partially duplicated notochord, remains after obliteration of the fistula. Consequently, the mucosa of the enteric remnant is inverted and projects through the skin on the back.Because it is a rare syndrome and not very many cases have been reported, not much information is available. Management consists of supportive treatment. A multidisciplinary approach is recommended involving a neonatologist, surgeon, neurosurgeon, geneticist, endocrinologist, cardiologist, and physical-therapist for the management of disabilities. Answering parents’ questions about the syndrome and giving them realistic expectations about the functioning capacity of their infant is an important role of a neonatologist.JoDee M. Anderson, MD, MEd, Assistant Editor, Visual Diagnosis, Video Corner; Associate Professor, Oregon Health & Science University, Portland, OR.