Abstract

Caudal regression syndrome is a spectrum of congenital structural defects associated with uncontrolled pre-gestational diabetes mellitus. Prevalence of this disease is 1 to 2.5 in 100,000 live births and background pre-gestational diabetes increases the risk by 200 fold. We present a case of caudal regression syndrome in a mother having type 2 diabetes mellitus with poor glycaemic control since preconceptional period and early gestation. The condition was diagnosed during anomaly scan at 20 weeks of gestation. Uncontrolled pre-existing diabetes is the most common aetiology for caudal regression syndrome. Therefore, proper preconceptional counseling is essential to optimize blood sugar levels in pre-gestational diabetic women. Carrying out anomaly scans around 20 weeks play a pivotal role in high risk cases in diagnosing foetal anomalies.

Highlights

  • Caudal regression syndrome is a spectrum of congenital structural defects associated with uncontrolled pre-gestational diabetes mellitus

  • The spectrum extends from partial, bilateral deformation and most severe types involving total absence of sacrum[2]

  • We present a rare case of caudal regression syndrome (CRS) in a mother with uncontrolled type 2 diabetes mellitus

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Summary

Introduction

Caudal regression syndrome is a spectrum of congenital structural defects associated with uncontrolled pre-gestational diabetes mellitus. A 24 year old primi-gravid presented at 20 weeks of period of gestation for an anomaly scan. She had been diagnosed with type II diabetes mellitus for the duration of past 10 years. She had poor drug compliance as well as had defaulted clinic follow-up in the pre-gestational period. A detailed scan revealed sudden termination of spine at lumbar level and fixed lower extremities with club foot It further showed relative atrophy of two legs, feet and sacrum with characteristic frog like limbs.

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