LAUSR

Dear Editor: The present article reports the images of a 2-month-old male babywho had a combination of two rare syndromes viz. Pierre Robin syndrome and caudal regression syndrome. This combination has been previously reported only once wherein the authors had published a case with features of Pierre Robin syndrome and caudal regression syndrome along with Chiari I malformation. A 2-month-old male infant was referred for MR evaluation of the spine and brain as the suspicion of caudal regression was there. His mother was diabetic. The MR evaluation was performed using 1.5 Tesla MRI machine (Siemens Healthcare). The MR study of the head and face revealed micrognathia, retrognathia, and posteriorly placed tongue (glossoptosis) which was compromising the airway and cleft palate (Fig. 1). All these features were consistent with Pierre Robin syndrome. The MR evaluation of the thoracolumbar spine and pelvis revealed high-up ending of the spinal cord at T9T10 levels with wedge-shaped terminus, sacral agenesis, and anterior urinary bladder sacculation with bladder showing features of neurogenic bladder with bilateral inguinal hernias (Fig. 2). All these features were consistent with the caudal regression syndrome. It is very rare to find such a combination of anomalies. Few cases have been reported of association of Chiari I malformation with Pierre syndrome and Chiari I malformation with caudal regression syndrome [1, 2]. One case was reported by Tubbs RS and Oakes WJ where they had demonstrated a combination of Pierre Robin syndrome, Chiari I malformation, and caudal regression syndrome with low conus and fatty filum terminale [3]. The present case adds to these rare combinations. This constellation belongs to the category of Baxial mesodermal dysplasia