Case of the Week #529

Dr Ho F., Dr Cuillier F.

December 31th, 2020 - January 21st, 2021

Dr. Ho F - Radiologist, private sector, 97400 Saint-Denis, Reunion Island, France.
Dr. Cuillier F - Department of Obstetrics, Felix Guyon Hospital, Reunion Island, France.

CASE REPORT:

This obese patient had been referred to our hospital at 28WG for premature labor.Our US examination at 28WG revealed the following anomalies :

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

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Answer

Our joint examination thanks to Ultrasound, CT and MRI releaved :

-Preserved BPD and HC
-AC 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 : Cervical spine was normal, there were 5 thoracic vertebrae (with T4 being a hemivertebra) + a primitive T6 vertebra mimicking a sclerotoma with a T shape. Lumbar spine was missing, sacrum was missing too. Illiac bones were fused, the pelvis was narrowed.
-5 ribs on the right, 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 seen, in median position, bladder was visible.

This patient had uncontrolled insulin-dependant 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 external examination confirmed the diagnosis.
Note the midline thoracic spine defect up to the skin.

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