Case of the Week # 520

Dr Ho F.1; Dr Cuillier F.2; Dr Dospeux J. 2; Dr Abossolo T.2; Dr J-L Alessandri.3; Dr Fernandez C4

June 25, 2020 - July 16, 2020

1. Radiologist, private sector, 97400 Saint-Denis, Reunion Island, France.
2. Department of Obstetrics, Felix Guyon Hospital, Reunion Island, France.
3. Department of Paediatrics, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France.
4. Department of Pathology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France.

Case report

This 40-year-old pregnant patient was referred to our hospital for multiple fetal anomalies. Down syndrome screening was normal. Her personal history was marked by an uncontrolled diabetes mellitus which existed before pregnancy.
 Our US examination between 28 to 32 weeks of gestation revealed the following anomalies.
We also performed a fetal CT scan at 28 weeks of gestation looking for additional bone anomalies anda fetal MR examination looking for additional CNS and visceral abnormalities.

Images 1-6, videos 1-3.

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Images 7 and 16.

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Images 17 and 31.

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Images 32 and 33.

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Answer

Case report

This 40-year-old pregnant patient was referred to our hospital for multiple fetal anomalies. Down syndrome screening was normal. Her personal history was marked by an uncontrolled diabetes mellitus which existed before pregnancy. Our US examination between 28 to 32 weeks of gestation revealed the following anomalies.
We also performed a fetal CT scan at 28 weeks of gestation looking for additional bone anomalies anda fetal MR examination looking for additional CNS and visceral abnormalities.

Images 1-6 and videos 1-3: US examination revealed a male fetus with normal estimated fetal weight and roughly normal biometry, a bilateral cleft involving both lip and palate, normal ear, a double inlet single ventricle (2 atrioventricular valves normally inserted associated with an extended VSD, leading to a single ventricle). Both outflow tracts were malposed but not obstructed (not shown). Spinal examination was difficult and non-conclusive in US. We supposed it could be a CHARGE syndrome.

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Images 7 and 16: CT scan at 28 weeks of pregnancy to look out for additional bone anomalies such as inner ear semi-circular canals agenesis. The fetal CT revealed usual appearance of semicircular canals, cochleae and choanae, wide hard palate defect, also involving the maxillary bone, due to the bilateral cleft lip+palate, and a vertebral block L3-L4 with complete agenesis of L5 + sacrum and coccyx. Iliac wings and limbs structure were normal.

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Images 17 and 31: we also performed a fetal brain MRI at 32 weeks to look out for olfactory bulbs agenesis and potential additional brain anomalies. Olfactory bulbs were present, there was no chorio-retinal coloboma, and we did not witness any other brain anomaly. CHARGE syndrome seemed unlikely. However, the sacral agenesis was highly suggestive of caudal regression syndrome, especially due to the patient’s history of diabetes mellitus. We then performed a visceral and spine MRI, at the same gestational age, which showed:

-tethered cord at L4, no syringomyelia, no chiari malformation
-sacral bony defect but also gluteal muscles agenesis
-normally meconium-filled rectal pouch, ruling out high-type associated anorectal malformation.
-odd orientation of both kidneys, in V shape, suggesting horseshoe kidneys.
-no associated presacral mass, which would have suggested a prenatal Currarino syndrome spectrum.

Note that on both CT at 28 weeks and MRI at 32 weeks of pregnancy, the fetus’ lower limbs had the same orientation, in a “crossed legged tailor-like” fashion.

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Careful US examination (not shown) confirmed absence of lower limbs movement. Our main prenatal diagnosis was then caudal regression syndrome, group 2 with tethered cord (as opposed to group 1 with blunt conus medullaris), associated with bilateral lip+palate cleft and double-inlet single ventricle heart.

The patient then chose to terminate the pregnancy.

Fetopathological examination found a normal brain, confirmed the bilateral lip+palate cleft, with normal choanae and normal ears, normal lungs, diaphragm, thymus, oesophagus, levocardy, double inlet single ventricle with malposed great arteries, normal abdominal situs, normal liver, gallbladder, pancreas, spleen.

Confirmed horseshoe kidneys, normal adrenal glands, normal digestive tract, no anorectal malformation, a male fetus and found an additional toes anomaly, with both 2nd toes overlapping the 3rd toes on both sides, which is a mild foot deformity.

No anomaly found on histological examination of various organs, especially no sign of infectious CMV or parvovirus B19 infection.

Images 32 and 33: postmortem X-rays  confirmed the L5 + sacral agenesis.

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Our final diagnosis thus was Caudal Regression syndrome, group 2 with tethered cord (as opposed to group 1 with blunt conus medullaris), associated with bilateral lip+palate cleft and double-inlet single ventricle heart, horseshoe kidneys and mild foot deformities.

For more information about caudal regression syndrome spectrum, refer to the references below.

References

-https://sonoworld.com/TheFetus/page.aspx?id=94

-https://sonoworld.com/TheFetus/page.aspx?id=3367

-https://sonoworld.com/TheFetus/page.aspx?id=1756

-https://sonoworld.com/TheFetus/page.aspx?id=2437

-https://sonoworld.com/TheFetus/page.aspx?id=2637

-Nievelstein RA, Valk J, Smit LM et-al. MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol. 1994;15 (6): 1021-9. AJNR Am J Neuroradiol (abstract)

-Stroustrup Smith A, Grable I, Levine D. Case 66: caudal regression syndrome in the fetus of a diabetic mother. Radiology. 2004;230 (1): 229 33. doi:10.1148/radiol.2301020942

-Rufener SL, Ibrahim M, Raybaud CA et-al. Congenital spine and spinal cord malformations--pictorial review. AJR Am J Roentgenol. 2010;194 (3): S26-37. doi:10.2214/AJR.07.7141

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