Case of the Week #529

Fabien Ho (1); Fabrice Cuillier (2)

Affiliations:
(1) Radiologist, private sector, 97400 Saint-Denis, Reunion Island, France.
(2) Department of Obstetrics, Felix Guyon Hospital, Reunion Island, France.

Posting Dates: December 31, 2020 - January 21, 2021

Case Report: This obese patient was referred to our hospital at 28 weeks gestation for premature labor. Our ultrasound examination revealed the following anomalies:

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We then performed an MRI and a CT scan of the fetus at 28 weeks gestation.

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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 4th percentile.
  • All long bones <3rd 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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