Caudal Regression Syndrome: Case Report and Review of Literature

Jadib A, Salam S, El Berhoumi A, Laoudiyi D, Chbani K and Ouzidane L

Published on: 2021-02-08

Abstract

Caudal regression is a rare congenital anomaly characterized by caudal vertebral agenesis, most often associated with spinal cord malformations and several other congenital anomalies, especially of the genitourinary and gastrointestinal systems. The cause remains unidentified. Imaging techniques allows for an early diagnosis and prognosis of this condition, for a better management. A 4 months-old boy, with weakness and amyotrophy in the lower limbs, associated to bilateral congenital talipes equinus varus, was brought for further management.

Keywords

Caudal regression syndrome; Congenital malformations; MRI

Introduction

Caudal regression syndrome is a rare congenital syndrome with variable degrees of vertebral sacro coccygeal agenesia, associated to a shorten lower limb, gastro intestinal, uro genital and cardio vascular anomalies. The cause remains unidentified, but the relation with maternal diabetes is well established. A case report is presented, and the literature is reviewed.

Patient ET observation

A 4 months-old boy, with weakness and amyotrophy in the lower limbs, associated to bilateral congenital talipes equinus varus, was brought for further management. He was the offspring of a nonconsanguineous marriage. His mother was a type 2 untreated diabetes. There was no other significant history, and an antenatal ultrasound had not been done. X-ray of the lower segment showed absence of all sacral vertebrae with hypoplastic fifth lumbar vertebrae, resulting in the fusion of iliac bones in the midline (Figure 1).

Figure 1: Anteroposterior (a) and lateral (b) radiographs show level of vertebral column termination at hypoplastic L5, with a fusion of iliac bones in the midline.

MRI shows a truncated blunt spinal cord terminating at the level of the 1st lumbar vertebrae, with syringomyelia (Figure 2).

Figure 2: axial (a, b) and sagittal (c, d) spin-echo T2-weighted images, showing a truncated blunt spinal cord terminating at the level of the 1st lumbar vertebrae (c), with syringomyelia (b, c), in association to absence of all sacral vertebrae with hypoplastic L5 vertebrae. (d), resulting in the fusion of iliac bones in the midline (a).

The diagnosis ported was a caudal regression syndrome.

Discussion

Caudal regression syndrome is rare malformation, with an estimated incidence of 1:7500-100,000, with no gender predilection [1]. It consists of a spectrum of structural defects interesting the caudal region, varying from isolated agenesis of the coccyx to lumbosacral agenesis, due to a disturbance of the primary neurulation process or derailment of the process of degeneration and differentiation of the neural tube. The main implicated causes are Hyperglycemia, infection, toxic and ischemic insults during early pregnancy. It is a mainly sporadic malformation, but familiar cases are described [2,3]. Severe cases are usually identified in utero or at birth, while Mild cases may not be identified until adulthood. It’s revealed by a broad range of symptoms including: neurogenic bladder and anorectal malformations, sensorimotor paresis, features of sacral agenesis (narrow hips, hypoplastic gluteal muscles, shallow intergluteal cleft), mild foot deformities and gait abnormalities [3]. Several associations are described, mainly: congenital genitourinary abnormalities, anorectal anomalies, other spinal anomalies, orthopedic abnormalities (range from isolated deformities of the feet to lower limb contractures), congenital cardiovascular anomalies, pulmonary hypoplasia, polyhydramnios and maternal diabetes [3,4]. Radiographic features vary depending on the severity. Generally, there is a lumbosacral vertebral body dysgenesis, usually below L1 and often limited to the sacrum, with a severe canal narrowing rostral to last intact vertebra, in association to a truncated blunt spinal cord terminating above the expected level [3]. Two broad groups of patients with caudal regression syndrome are differentiated according to the conus medullaris. In the first group, the conus medullaris is blunt and terminates above the normal level; sometimes there is an associated dilated central canal or a cerebrospinal fluid-filled cyst at the lower end of the conus, with major sacral deformities. In the second group, the conus medullaris is elongated and tethered by a thickened filum terminal or intraspinal lipoma and ends below the normal level. Neurologic disturbances are more severe in this group [5]. Antenatal ultrasound may show a blunted sharp ending distal cord, the conus often ending way above the expected level, an absent/hypoplastic sacrum, opposed iliac bones, hypoplastic extended lower extremities with crossed legged tailor" position. The crown-rump length may be less than expected for gestational age as an indirect feature in the first trimester [4,6]. MRI has similar but more detailed features than ultrasound and helps in early diagnosis. It is useful to evaluate root canal stenosis. A characteristic wedge-shaped termination of the cord may be observed. [3]. Treatment is a challenge for the treating physician and needs a multidisciplinary approach which involves the pediatrician, the pediatric surgeon, the orthopedic surgeon, the physiotherapist and the social worker. Pathologies that merit special attention are orthopedic deformities, bladder and bowel continence, as well as preservation of kidney function. This helps to be independent and socially useful with a better quality of life [4].

Conclusion

Caudal regression syndrome is a rare congenital anomaly of distal spinal segments. Intelligence is preserved. MRI is the ideal modality for detailed evaluation and helps in early diagnosis. Treatment is difficult, multidisciplinary, and largely supportive.

References