[Caudal regression syndrome]

Abstract

Introduction: The regression caudal syndrome includes a spectrum of malformations which vary from the symptomless coccygeal agenesis until thoracic vertebrae and sacrococcygeal agenesis with severe neurological deficit; it is associated sometimes with malformations in other organs and systems. We present a case of partial agenesis of sacro and coccix with neuromuscular, sphincter and orthopedist alterations.

Clinical case: A 4-year-old patient consults because of walk alterations, with daytime and nocturnal enuresis and urinary incontinence, constipation/encopresis and rectal prolapse. Familiar and personnel precedents are uninteresting. She began to walk at normal age, referring only rectal prolapse with constipation from nursing and urinary tract infections and encopresis when she was 3 years old, with normal complementary explorations (digestive and nephrourologyc). She presents in lumbosacral X-rays four lumbar vertebrae, a dysplasic sacro and absence of coccix. Hypoplasy of sacro with bilateral stenosis of the pelvis and coxa vara in both femurs are seen in the lumbar CT. In RMI is observed agenesis of sacro and coccix vertebrae.

Conclusions: There are a wide variety of sacrococcygeal agenesis, which are classified by Renshaw and modified by Pang. As etiologics factors we find the gestational diabetes, in addition to genetic factors. The clinic exploration guides us toward a flaccid paraparesia/areflexia, with orthopaedist alterations, sometimes of artrogripotyc type. With image techniques (X-rays, CT, MRI) we can accomplish the diagnosis and we can discard or demonstrate associated medullary anomalies. We concluded that in all patient with alterations of walk and/or lack of sphincters control we should explore the lumbosacral region searching for medulodiysplasic or vertebral alterations.