Currarino syndrome and spinal dysraphism

Abstract

<jats:p>Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the <jats:italic>MNX1</jats:italic> gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele.</jats:p>

Fatal Meningitis in a 14-Month-Old with Currarino Triad

“…The components of the triad, sacral defect, presacral mass, and anorectal malformation occur with different frequencies although the sacral anomaly is the most common occurring defect [9, 10]. Anal stenosis is the most frequent anorectal malformation followed by imperforate anus [8, 10].…”

“…Chronic intestinal pseudoobstruction is part of the CS, but no precise defect either in intrinsic innervation or in muscular coats of the hindgut has been discovered [8]. Occult spinal dysraphism and spinal cord anomalies including syrinx, low-lying conus, diastematomyelia, spinal lipoma, and tethered cord are frequent [10]. …”

“…The presacral mass can be anterior meningocele, teratoma, dermoid, or epidermoid cysts [7, 10]. The presacral mass is the cause of most symptoms and complications of the syndrome.…”

“…The local mass effect not only contributes to constipation but also can lead to urogenital symptoms, local infection, and pain. The mass could be a teratoma which can occasionally turn malignant [8, 10]. The presacral mass can erode into the rectum leading to neuroenteric fistulous communication resulting in fatal meningitis and large pneumocephalus.…”

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

“…Multiple SDV (M-SDV) has been identified in various syndromes and a topographical classification was proposed, separating cervical, thoracic, lumbar and sacral M-SDV. Well-described syndromes are found in each category, notably with Klippel-Feil syndrome, which is associated with variants in GDF3 , GDF6 , MYO18B and MEOX1 8; spondylocarpotarsal synostosis syndrome, associated with variants in FLNB 9; and Currarino syndrome, associated with variants in MNX1 10. M-SDV can also be secondary to neuromuscular disorders and teratogenic exposure (alcohol, valproic acid, phenytoin…) 11.…”