Case of the Week # 520

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Fabien Ho

Case of the week # 520
June 25, 2020 - July 16, 2020

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

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

3. Department of Paediatrics, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France.ʉ۬
4. Department of Pathology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France.ʉ۬


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.
US1
US3
US4
US6
US7

 

US8




Images 7 and 16.
CT1
CT2
CT3
CT4
CT5
CT6
CT7
CT8
CT9
CT10


MR1
MR2
MR3
MR4
MR5
MR6
MR7
MR8
MR9
MR10
MR11
MR12
MR13
MR14
MR15
 
Rx1
Rx2

 

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Answer

Answer to the case of the week # 520
June 25, 2020 - July 16, 2020

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

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 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.

 





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.


 
Rx1
Rx2
 

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