Neonatal Currarino’s syndrome presenting as intestinal obstruction

Description

A female term infant failed to pass meconium and developed gross abdominal distension at 36 h of age. Examination showed a normally sited, normal-sized anus and a non-tender but distended abdomen. She responded to rectal washouts and rectal suction biopsy showed normal ganglion cells. An abdominal X-ray showed dilated loops of bowel, a soft tissue mass in the pelvis, no air in the rectum and a scimitar-shaped sacrum with absence of the fourth and fifth sacral elements on its left side (figure 1A). A lower gastrointestinal contrast study showed anorectal stenosis and a dilated proximal rectum (figure 1B). Ultrasound of the pelvis and lumbar spine showed that the conus terminated at L3 with a heterogonous mass at about S3 suggestive of an anterior lipomyelomeningocele, a teratoma or both (figure 1C). Spinal MRI confirmed a presacral mass (figure 1D). Initial management involved regular dilations and washouts but the parents were unable to cope with it. She required a defunctioning left descending colostomy after few weeks due to distended proximal rectum and sigmoid with faecal impaction. She was referred to regional centre with neurosurgical setup for further management of presacral mass excision and anorectoplasty. The Currarino's syndrome is an autosomal dominant disorder and a variant of caudal regression syndrome characterised by the triad of hemisacrum, anorectal malformation and presacral mass. Neonatal presentation with intestinal obstruction is rare and may be associated with Hirschsprung's disease.^1–3 It could be complete, mild or minimal depending on expressivity and requires multidisciplinary management.

Figure 1.

Plain, contrast, ultrasound and MRI showing scimitar hemisacrum, anorectal stenosis and presacral mass (arrows in MRI). This triad of malformations is also called Currarino triad.

Learning points.

• A newborn baby with normal site and size of anus may have an anorectal malformation.

• A sacral X-ray is the key to the association of triad and a rectal suction biopsy should be performed to rule out associated Hirschsprung's disease.

• Ultrasound may not be able to delineate small masses and MRI must be carried out to clearly delineate the anatomy and pathological lesions as the combination of neural and teratomatous elements may be present simultaneously and requires a multidisciplinary approach to management.