| Abstrakt: |
Introduction. A phenocopy is a phenotype that falsely mimics the true phenotype of a genetic disorder. In the case of Noonan syndrome, the phenocopy will express a phenotype that closely resembles this particular syndrome. Phenocopies usually have a different cause and pathogenesis than the disease they mimic. Noonan syndrome, an unusual autosomal dominant disorder, is characterized by facial dysmorphia, pulmonary stenosis, mental retardation, bleeding and cardiac hypertrophy. Materials and method. We present the case of a term male neonate diagnosed with fetal pericarditis at 22 weeks of gestational age, using intrauterine ultrasound. Subsequently, the presence of maternal parvovirus infection was revealed. At 32 weeks of gestational age, the pregnant woman became infected with SARS-CoV-2, presenting a mild form of the disease. At birth, a particular phenotype indicating Noonan Syndrome was observed (hypertelorism, Cupid’s bow, low inserted ears, microretrognathia, short and wide neck, low posterior hair insertion, systolic murmur grade IV/6). Echocardiography was performed which revealed narrow pulmonary artery stenosis. Genetic testing was performed at birth, using NGS sequencing and deletion/duplication analysis for the 18 genes in the RASopathy Panel. Results. No genetic variation (mutation) was identified that is currently recognized as clinically significant for Noonan syndrome. COVID-19 and parvovirus IgGs were present, IgM was negative. Conclusions. Although some possible congenital abnormalities caused by parvovirus B19 infection (nervous system, craniofacial, gastrointestinal or musculoskeletal) considered coincidental have been mentioned in the literature, we cannot claim that maternal infection with parvovirus 19 and SARS-CoV-2 were responsible for the infant’s clinical picture and pulmonary stenosis. We cannot incline that the cardiac anomaly is an isolated malformation, because the presence of facial dysmorphia is suggestive of a syndrome. [ABSTRACT FROM AUTHOR] |
