Multiple neurosurgical treatments for different members of the same family with Currarino syndrome

Abstract

IntroductionCurrarino's syndrome (CS) is an autosomal dominant disorder of embryonic development causing a rare malformating syndrome characterized by a triad of an anorectal malformations, presacral mass (most commonly an anterior sacral meningocele) and sacral bony defects. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. Family screening is obligatory. The diagnosis is usually made during childhood and rarely in adulthood. In this context, imaging, and especially MRI plays a major role in the diagnosis of this syndrome. Surgical management is provided by pediatric surgeons or neurosurgeons. Familial case reportHere, we present a family case report with CS requiring different neurosurgical management. The son, a 3-year-old boy, developed a tethered spinal cord syndrome associated to a lipoma of the filum terminale, a sacro-coccygeal teratoma and an anal adhesion. A combined surgical approach permitted a good evolution on the urinary and digestive functions despite a persistent fecal incontinence. The 2-year-old daughter presented with a cyst of the thyreoglossal tract infected and fistulized to the skin. She was also followed for a very small lipoma of the filum terminale that required a neurosurgical approach. The father, 44-year-old, manifested functional digestive and urinary disorders caused by a giant anterior sacral meningocele. The ligation of the neck of the cyst and aspiration of the liquid inside in full through a posterior partial approach permit a complete collapse of the cyst with an instantly satisfactory clinical outcome. ConclusionIn these cases, cooperation between pediatric surgeons and neurosurgeons was crucial. The follow-up of these patients should be done in a spina bifida clinic. A geneticist evaluation must be offered to the patient in the case of a CS as well as a clinical evaluation of the relatives (parents, siblings).