FETAL INTRACRANIAL CALCIFICATIONS, NOT JUST CONGENITAL TORCH INFECTIONS Del Junco Ferriol L, Palacios Gamir L, Bermejo de las Heras R, Quereda Seguí F. San Juan University Hospital, Spain. Miguel Hernández University. To report a case of Aicardi-Goutières syndrome (AGS) diagnosed in our centre to illustrate another cause of fetal intracranial calcifications, apart from TORCH infections. CASE REPORT Our patient was a Spanish 37-year-old pregnant woman, gravida 4, para 1. Both members of the couple had no specific medical history. First-trimester sonographic and second-trimester findings were normal. At the routine third-trimester sonographic examination (34 weeks of pregnancy), mild bilateral ventriculomegaly was detected and the patient was referred to our centre for a prenatal ultrasonographic consultation. The sonographic findings were moderate bilateral ventriculomegaly with an hyperechogenic periventricular halo and periventricular calcifications, enlarged cisterna magna and cerebral white matter hyperechogenic lesions like calcifications at this level too. The cerebellum was hypoplastic and it was displaced due to the enlargement of the cisterna magna. The estimated fetal weight was 2200 grams (6 th centile) with normal Doppler measurements. Maternal serologic tests were performed and they were all negative. Moreover, we performed an amniocentesis with the following results: normal fetal karyotype (46, XX), and the polymerase chain reaction for CMV, Listeria, Toxoplasma, Parvovirus, hepatitis, herpes, Zika and Chikungunya were all negative. Fetal magnetic resonance imaging was performed and it confirmed the ultrasound findings. Additionally, we obtained amniotic fluid for array-CGH testing. A sequence variation of the RNASEH 2B gene (c.476G>T) was found in homozygosis. This pathogenic finding was associated with AICARDI-GOUTIÈRES SYNDROME. At 37 weeks of gestation a 2420 grams (5 th centile) girl was born by vaginal delivery. After birth, we performed a transfontanellar ultrasound and a magnetic resonance and the findings were similar to those previously described. CONCLUSION Aicardi-Goutières syndrome (AGS) is a rare, genetic, early-onset and progressive encephalopathy with an autosomal recessive inheritance pattern. Nowadays, there are 7 genes whose mutations are related to this condition: ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 and IFIH1. To the best of our knowledge, there are only 6 cases published with prenatal diagnosis of this syndrome. Prenatal imaging findings of this syndrome suggests a CMV congenital infection and the diagnosis in utero requires genetic testing. 18 th WORLD CONGRESS IN FETAL MEDICINE 25 th - 29 th June 2019. Alicante, Spain. OBJECTIVE Finally, we performed a genetic blood test in both members of the couple and we found the same sequence variation of the RNASEH2B gene (c.476G>T). Therefore, we conclude that both of them are carriers of the disease. At the present moment, the infant is 3 months old and is on medical follow-up by pediatrics and rehabilitation. She needs chronic oxygen therapy daily and she is taking antiepileptic medication.

FETAL INTRACRANIAL CALCIFICATIONS, NOT JUST … · FETAL INTRACRANIAL CALCIFICATIONS, NOT JUST CONGENITAL TORCH INFECTIONS Del Junco FerriolL, Palacios GamirL,Bermejo de las Heras

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FETAL INTRACRANIAL CALCIFICATIONS, NOT JUST CONGENITAL TORCH INFECTIONS

Del Junco Ferriol L, Palacios Gamir L, Bermejo de las Heras R, Quereda Seguí F.San Juan University Hospital, Spain. Miguel Hernández University.

To report a case of Aicardi-Goutières syndrome (AGS) diagnosed in our centre to illustrate another cause of fetal intracranialcalcifications, apart from TORCH infections.

CASE REPORT

Our patient was a Spanish 37-year-old pregnant woman, gravida 4, para 1. Both members of the couple had no specificmedical history. First-trimester sonographic and second-trimester findings were normal. At the routine third-trimestersonographic examination (34 weeks of pregnancy), mild bilateral ventriculomegaly was detected and the patient was referredto our centre for a prenatal ultrasonographic consultation.

The sonographic findings were moderate bilateral ventriculomegaly with an hyperechogenic periventricular halo andperiventricular calcifications, enlarged cisterna magna and cerebral white matter hyperechogenic lesions like calcificationsat this level too. The cerebellum was hypoplastic and it was displaced due to the enlargement of the cisterna magna. Theestimated fetal weight was 2200 grams (6th centile) with normal Doppler measurements.

Maternal serologic tests were performed and they were all negative. Moreover, we performed an amniocentesis with thefollowing results: normal fetal karyotype (46, XX), and the polymerase chain reaction for CMV, Listeria, Toxoplasma, Parvovirus,hepatitis, herpes, Zika and Chikungunya were all negative. Fetal magnetic resonance imaging was performed and it confirmedthe ultrasound findings.

Additionally, we obtained amniotic fluid for array-CGH testing. A sequence variation of the RNASEH2B gene (c.476G>T) wasfound in homozygosis. This pathogenic finding was associated with AICARDI-GOUTIÈRES SYNDROME.

At 37 weeks of gestation a 2420 grams (5th centile) girl was born by vaginal delivery. After birth, we performed atransfontanellar ultrasound and a magnetic resonance and the findings were similar to those previously described.

CONCLUSIONAicardi-Goutières syndrome (AGS) is a rare, genetic, early-onset and progressive encephalopathy with an autosomal recessiveinheritance pattern. Nowadays, there are 7 genes whose mutations are related to this condition: ADAR, RNASEH2A,RNASEH2B, RNASEH2C, SAMHD1, TREX1 and IFIH1.To the best of our knowledge, there are only 6 cases published with prenatal diagnosis of this syndrome. Prenatal imagingfindings of this syndrome suggests a CMV congenital infection and the diagnosis in utero requires genetic testing.

18th WORLD CONGRESS IN FETAL MEDICINE25th - 29th June 2019. Alicante, Spain.

OBJECTIVE

Finally, we performed a genetic blood test inboth members of the couple and we foundthe same sequence variation of theRNASEH2B gene (c.476G>T). Therefore, weconclude that both of them are carriers ofthe disease.

At the present moment, the infant is 3months old and is on medical follow-up bypediatrics and rehabilitation. She needschronic oxygen therapy daily and she istaking antiepileptic medication.