Case of the Week #529

Fabien Ho (1); Fabrice Cuillier (2)

Answer

We present a case of Caudal Regression syndrome, secondary to uncontrolled diabetes mellitus.

Our combined ultrasound, CT and MRI images revealed:

Preserved biparietal diameter and head circumference.
Abdominal circumference at the 4^th percentile.
All long bones <3^rd percentile (not all bones are shown, but we measured them all, on both ultrasound and CT).
Thoraco-Lumbo-Sacral Agenesis with 5 thoracic vertebrae (T4 being a hemivertebra, primitive T6 vertebra mimicking a sclerotoma with a T shape), absent lumbar spine, and absent sacrum. The illiac bones were fused and the pelvis narrowed. The cervical spine was normal.
5 ribs on the right and 6 ribs on the left with a synostosis K5-K6.
Truncated blunt spinal cord at T5-T6 level, followed by a severe canal narrowing.
Rectal pouch was not visible, due to associated anorectal malformation (high type).
One kidney was identified in median position. The bladder was visible.

This patient had uncontrolled insulin-dependent diabetes mellitus prior to this pregnancy, with HbA1c as high as 9%. Our prenatal diagnosis was therefore Caudal Regression syndrome, secondary to uncontrolled diabetes mellitus.

The parents chose to abort pregnancy after counseling. Fetal physical examination confirmed the diagnosis. A midline thoracic spine defect was noted up to the skin.

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