Split notochord syndrome with neuroenteric fistula.

Dear sir,

Split notochord syndrome (SNS) is a very rare congenital malformation of the central nervous system involving the brain, spinal cord and vertebral column. About 40 cases of SNS have been reported in literature.[1] In about half of the cases of SNS, the malformation also involves the gastrointestinal tract (GIT) in the form of dorsal neuroenteric fistula (NEF). In a few cases, it is also associated with other anomalies like imperforate anus, vesical exstrophy, hypospadias, and so on.[23]

A 5-day-old newborn (female) was received in the nursery emergency department of our institution with imperforate anus, and a lump at the lumbosacral region with passage of meconium from that lump. The weight of the baby was 2 kg and she was looking unwell in general appearance. She was hypothermic with a temperature of 97°F, and had a respiratory rate of 40/min and heart rate of 80/min. The baby was resuscitated immediately by keeping under infant warmer, oxygen inhalation by nasal canula, institution of intravenous fluids and antibiotics. Vitamin K injection was given and anti-tetanus toxoid was injected intramuscularly. On examination, the baby had no anal pit; spinal lump was a myelomeningocele (MMC) having an intestinal loop in the configuration of stoma through which meconium was coming out [Figure 1].

Figure 1

Image showing MMC and NEF

The patient was diagnosed as a case of SNS with NEF and imperforate anus. Abdominal radiograph confirmed the split spine [Figure 2]. Abdominal ultrasonography revealed right-sided renal agenesis. Cranial ultrasound of the patient revealed hydrocephalus. Her laboratory parameters were as follows: Hb 12 g/dl, WBC 20,000/cmm, platelets 45,000/microliter, urea 68 mg/dl, creatinine 1.4 mg/dl, Na 135 mEq/L, K 3.5mEq/L, Ca 9.2 mmol/L, C-reactive protein (CRP) 46 mg/L. The patient was planned for surgical intervention thrice but it got postponed due to intractable septicemia and hemodynamic instability. One evening when the clinical condition of the baby was appreciated as mildly improved and she was put on elective list, her parents left the hospital against medical advice and never returned.

Figure 2

Abdominal radiograph showing split of distal spine

SNS is a very rare congenital malformation and thought to be a result of maldevelopment of notochord, neuroenteric canal and paraxial mesoderm; but the exact etiology is still debatable.[1] SNS is very rare condition and is associated with dorsal NEF in about 50% of cases. In about more than one-third of cases, SNS is also associated with anorectal malformation especially imperforate anus. Previously, we had reported a similar case of SNS associated with NEF, imperforate anus, and hydrocephalus, but in the index case there was also a right renal agenesis along with aforementioned associated anomalies.[2-4]

The anomaly is usually associated with anterior and posterior clefts of the spine, especially at the thoraco-lumbar region, through which the intestinal fistula appears. Some case reports described the complete GIT evisceration through the defect in the vertebral column. The level of NEF that have been reported is small intestine, cecum, colon and rectum.[56] SNS associated with NEF and other congenital anomalies is a very rare disease requiring a multidisciplinary approach for the management of disabilities associated with this anomaly. The patient remained critical throughout the course in the hospital and we had not been able to operate upon the patient. Our plan was to separate the NEF, making of colostomy, and repair of MMC.