Noonan Syndrome with Massive Fetal Pleural Effusion and Hepatomegaly with Elevated Liver Fibrosis Markers
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- Yokokawa Mari
- Department of Pediatrics, Sasebo City General Hospital
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- Sumi Muneichiro
- Department of Pediatrics, Sasebo City General Hospital
Bibliographic Information
- Other Title
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- 著明な胎児胸水と肝線維化マーカー上昇を伴う肝腫大を認めたNoonan症候群の新生児例
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Abstract
<p> Noonan syndrome(NS)is a distinctive facial appearance, lymphoid dysplasia, and a congenital anomaly syndrome characterized by heart anomaly. We herein report a female infant in whom right pleural effusion and hepatomegaly were noted at 29 weeks of gestation with bilateral pleural effusion pooling progressively at 30 weeks. She was delivered via Caesarean section at 32 weeks and 2 days of gestation due to a non-reassuring fetal status. She had symptoms specific to NS, such as significant anasarca, distinctive facial features, myeloproliferative disorder(MPD), and atrial septal defect. In addition, she had also non-specific symptoms, such as hepatomegaly with malformation of the portal vein and elevated liver fibrosis markers. Genetic screening showed a mutation of the PTPN11 gene, which confirmed the diagnosis of NS. Thrombocytopenia, monocytosis and blast cells in the peripheral blood since birth remitted without any treatment and eventually was diagnosed as Noonan syndrome-related myeloproliferative disorder. In cases of fetal pleural effusion and hepatomegaly, chromosomal or genetic abnormalities should be considered as the differential diagnosis. Furthermore, hematologic and liver function including fibrosis markers need to be evaluated to identify any complications such as MPD and liver malformation.</p>
Journal
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- Journal of Japan Society of Perinatal and Neonatal Medicine
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Journal of Japan Society of Perinatal and Neonatal Medicine 58 (1), 190-194, 2022
Japan Society of Perinatal and Neonatal Medicine
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Keywords
Details 詳細情報について
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- CRID
- 1390292007982884096
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- ISSN
- 24354996
- 1348964X
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- Text Lang
- ja
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- Data Source
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- JaLC
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- Abstract License Flag
- Disallowed