Atypical caudal regression syndrome with lumbar agenesis, hypoplastic sacrum without sacroiliac joints in the eastern Democratic Republic of Congo: a case report

The agenesis of any segment of the lower spinal column referred to as “caudal regression syndrome” (CRS) is a rare congenital defect of the spine. This malformation is characterized by the absence of some or the entire lumbosacral vertebral segment. Etiological factors remain unknown. We report an atypical caudal regression syndrome with lumbar agenesis, disconnected from the remaining hypoplastic sacrum, in the Eastern part of the Democratic Republic of Congo (DRC). An 11-month-old female infant with no particular fetal or maternal history presented limb weakness with flexed knees and flanges in the popliteal fossae, sphincter atony, and a sensation of emptiness on palpation in the lumbosacral region. A 3D CT scan of the spine showed the absence of the lumbar spine and disconnection of the upper segment of the thoracic spine from the hypoplastic sacrum. We noted also the absence of the sacroiliac joints bilaterally and an unusual trigonal shape of the iliac bones. MRI and sonographic examination are required in the investigation of the disease. The management is multidisciplinary and depends upon the degree of the defect. Spine reconstruction has proven to be a valuable management technique but has many complications. We wanted to draw the medical world’s attention to the existence of this extremely rare malformation in the east of the Democratic Republic of Congo, a mining area.