BMJ paediatrics open · 2020
Novel facial characteristics in congenital rubella syndrome: a study of 115 cases in a cardiac hospital of Bangladesh.
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Begum Nurun Nahar Fatema
Аннотация
OBJECTIVE: To establish novel facial characteristics unique to congenital rubella syndrome (CRS) as prediagnostic criteria to supplement disease diagnosis in patients with or without a history of maternal rubella infection.
DESIGN: An analysis of 115 CRS case series (2018-2020) based on the presence of any of the triad features.
SETTING: Outpatient department of a tertiary care referral cardiac hospital in Dhaka, Bangladesh.
PARTICIPANTS: In total, 115 participants (53.1% men) were enrolled. Participants underwent echocardiography if they presented with suspected cardiac symptoms along with deafness, cataract or microcephaly.
MAIN OUTCOME MEASURES: Age, sex and socioeconomic status of the participants; history of maternal vaccination and infection; facial characteristics unique to CRS (triangular face, prominent nose, wide forehead and a whorl on either side of the anterior hairline) named 'rubella facies' and frequency of systemic involvements in CRS.
RESULTS: The median patient age was 2 years. The income of 50.4% of the participating families was <US$1500. Further, 32 mothers (27.8%) were infected with rubella during the first trimester of pregnancy, 15 (13.0%) during the second trimester and 3 (2.6%) during the third trimester. The remainder (65.2%) recalled no history of infection during pregnancy. Rubella facies presented as a triangular-shaped face in 95 (82.6%) cases, a broad forehead in 88 (76.5%) and a prominent nose in 75 (65.2%). A rubella whorl was present on the right or left side of the anterior hairline in 80% and 18.2% of cases, respectively. IgG and IgM antibodies were present in 91.3% and 8.6% of children, respectively. Cataract, deafness, microcephaly, and congenital heart disease were detected in 53.0%, 75.6%, 68.6% and 98.2% of cases, respectively.
CONCLUSIONS: Rubella facies, a set of unique facial characteristics, can support early CRS diagnosis and treatment and may supplement the existing CRS triad.
DESIGN: An analysis of 115 CRS case series (2018-2020) based on the presence of any of the triad features.
SETTING: Outpatient department of a tertiary care referral cardiac hospital in Dhaka, Bangladesh.
PARTICIPANTS: In total, 115 participants (53.1% men) were enrolled. Participants underwent echocardiography if they presented with suspected cardiac symptoms along with deafness, cataract or microcephaly.
MAIN OUTCOME MEASURES: Age, sex and socioeconomic status of the participants; history of maternal vaccination and infection; facial characteristics unique to CRS (triangular face, prominent nose, wide forehead and a whorl on either side of the anterior hairline) named 'rubella facies' and frequency of systemic involvements in CRS.
RESULTS: The median patient age was 2 years. The income of 50.4% of the participating families was <US$1500. Further, 32 mothers (27.8%) were infected with rubella during the first trimester of pregnancy, 15 (13.0%) during the second trimester and 3 (2.6%) during the third trimester. The remainder (65.2%) recalled no history of infection during pregnancy. Rubella facies presented as a triangular-shaped face in 95 (82.6%) cases, a broad forehead in 88 (76.5%) and a prominent nose in 75 (65.2%). A rubella whorl was present on the right or left side of the anterior hairline in 80% and 18.2% of cases, respectively. IgG and IgM antibodies were present in 91.3% and 8.6% of children, respectively. Cataract, deafness, microcephaly, and congenital heart disease were detected in 53.0%, 75.6%, 68.6% and 98.2% of cases, respectively.
CONCLUSIONS: Rubella facies, a set of unique facial characteristics, can support early CRS diagnosis and treatment and may supplement the existing CRS triad.