Pregnancy complicated by MonoMAC syndrome: A case report

• Published in: Journal of Japan Society of Perinatal and Neonatal Medicine Vol. 60; no. 1; pp. 142 - 146
• Main Authors: Imaizumi, Midori, Huruta, Yu, Tabata, Tomoaki, Tanuma, Humie, Kataoka, Soromon, Kodate, Hideaki, Yamada, Waka
• Format: Journal Article
• Language: Japanese
• Published: Japan Society of Perinatal and Neonatal Medicine 2024; 一般社団法人 日本周産期・新生児医学会
• Subjects: GATA2 deficiency; HPV（human papillomavirus）; MDS（Myelodysplastic syndrome）; MonoMAC syndrome
• ISSN: 1348-964X; 2435-4996
• DOI: 10.34456/jjspnm.60.1_142

Monocytopenia and Mycobacterium avium complex infection（MonoMAC）syndrome is a GATA2 deficiency syndrome in which patients are susceptible to infection by viruses and fungi, including acid-fast bacilli and human papillomavirus. Being a primary immunodeficiency syndrome, it causes hematopoietic diseases such as myelodysplastic syndrome（MDS）. Herein, we report the case of a 32-year-old woman with 1 pregnancy and 0 deliveries who had recurrent fever and pancytopenia since age 13. She was diagnosed with MonoMAC syndrome and MDS at age 27, had repeated condyloma acuminatum due to human papillomavirus infection, and underwent cervical conization for stage 1A1 cervical cancer at age 29. She became pregnant at age 32, and cervical cytology at 8 and 30 weeks was atypical squamous cells─cannot exclude high-grade squamous intraepithelial lesions. Condyloma acuminatum was refractory during pregnancy, and elective cesarean section was performed at 37 weeks and 4 days of gestation. Condyloma acuminatum almost disappeared at the 1-month postpartum checkup. Therefore, infection control is important in pregnancies complicated with MonoMAC syndrome, and regular blood tests should be performed to monitor severe anemia and bleeding tendency in cases of MDS. Additionally, collaboration with respiratory medicine and hematology departments is necessary to provide early treatment when symptoms appear.