Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney

Abstract

A 20-month-old girl, born to a diabetic mother, was admitted to our hospital with difficulty in walking. Physical examination revealed scoliosis and bilateral leg weakness. Spinal magnetic resonance imaging revealed absence of distal sacrum caused by caudal regression, partial fusion of L1 and L2, tethered spinal cord with a low-lying conus medullaris at the L5–S1 levels, and dural ectasia (Fig. 1). Additionally, partial splitting of distal cord into two hemicords within a single dural tube (diplomyelia-type 2 split cord malformation), distal cord syringomyelia, and horseshoe kidney were present (Fig. 2). Caudal regression syndrome is characterized by variable degree of lumbosacral dysgenesis which results from abnormal canalization and retrogressive differentiation of the caudal cell in early pregnancy (<4th week of gestation), and may be associated with genitourinary anomalies, cardiac diseases, tethered cord, dermoid cyst, and split cord malformations. Mustafa Kemal Demir, MD Zafer Orkun Toktas, MD Baran Yilmaz, MD Akin Akakin, MD Orkun Koban, MD Deniz Konya, MD Department of Radiology, Bahcesehir University School of Medicine Goztepe Medical Park Hospital 11. kisim, Yasemin Apt, D blok. Daire 35 Atakoy 34158 Istanbul, Turkey Department of Neurosurgery, Bahcesehir University School of Medicine Goztepe Medical Park Hastanesi Norosirurji Klinigi E5 Uzeri 23 Nisan Sok. No: 17 Merdivenkoy Kadikoy 34732 Istanbul, Turkey