Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review
Introduction. Niemann–Pick disease type B is an autosomal recessive disease caused by sphingomyelinase deficiency resulting in sphingomyelin accumulation in macrophages of various organs. Visceral involvement includes spleen enlargement, thrombocytopenia, dyslipidemia, sphingomyelin deposition in lu...
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| Format: | Article |
| Language: | English |
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Serbian Medical Society
2023-01-01
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| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | https://doiserbia.nb.rs/img/doi/0370-8179/2023/0370-81792300017A.pdf |
| _version_ | 1797748894071783424 |
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| author | Agić Danijela Milošević Ivana Mitić Gorana Kavečan Ivana Stojić Siniša |
| author_facet | Agić Danijela Milošević Ivana Mitić Gorana Kavečan Ivana Stojić Siniša |
| author_sort | Agić Danijela |
| collection | DOAJ |
| description | Introduction. Niemann–Pick disease type B is an autosomal recessive disease caused by sphingomyelinase deficiency resulting in sphingomyelin accumulation in macrophages of various organs. Visceral involvement includes spleen enlargement, thrombocytopenia, dyslipidemia, sphingomyelin deposition in lung and liver, and bleeding risk. This is a rare disease and literature data about pregnancy in this setting are scarce. We present two favorable pregnancy outcomes in a patient with Niemann–Pick disease type B along with the review of the literature. Case outline. At the time of the first intended pregnancy, the patient was 34 years old. She had an extremely enlarged spleen, mild restrictive pulmonary disorder, hyperlipoproteinemia type IIb, thrombocytopenia with impaired aggregation tests. Cesarean section was indicated. She was prepared for delivery with platelet concentrates and prophylactic use of antibiotics. In the 36th week of gestation, a Cesarean section without complications was performed. The newborn’s anthropometric parameters were BW 2490, BL 47 cm, HC 32 cm, and Apgar score was 7/8. The infant’s development was normal. Three years later, in the second wanted pregnancy, the same examinations were done. The planned Cesarean section was done without complication after the same procedures, including prophylactic use of antibiotics and platelet concentrates, and a healthy female child was born. Conclusion. A multidisciplinary approach in female patients who suffer from lysosomal storage disease such as Niemann–Pick disease type B is essential and a favorable course is possible despite all risks. |
| first_indexed | 2024-03-12T16:12:26Z |
| format | Article |
| id | doaj.art-5e8eb4f6a5c24024a85f0667a1dfecdb |
| institution | Directory Open Access Journal |
| issn | 0370-8179 2406-0895 |
| language | English |
| last_indexed | 2024-03-12T16:12:26Z |
| publishDate | 2023-01-01 |
| publisher | Serbian Medical Society |
| record_format | Article |
| series | Srpski Arhiv za Celokupno Lekarstvo |
| spelling | doaj.art-5e8eb4f6a5c24024a85f0667a1dfecdb2023-08-09T12:42:41ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792406-08952023-01-011515-636336610.2298/SARH220225017A0370-81792300017AMonitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature reviewAgić Danijela0https://orcid.org/0000-0003-1697-3045Milošević Ivana1https://orcid.org/0000-0002-6238-0825Mitić Gorana2Kavečan Ivana3https://orcid.org/0000-0002-2391-0344Stojić Siniša4University of Novi Sad, Faculty of Medicine, Department of Internal Medicine, Novi Sad, Serbia + University Clinical Center of Vojvodina, Clinic for Hematology, Novi Sad, SerbiaUniversity of Novi Sad, Faculty of Medicine, Department of Internal Medicine, Novi Sad, Serbia + University Clinical Center of Vojvodina, Clinic for Hematology, Novi Sad, SerbiaUniversity of Novi Sad, Faculty of Medicine, Department of Pathophysiology and Laboratory Medicine, Novi Sad, SerbiaUniversity of Novi Sad, Faculty of Medicine, Department of Pediatrics, Novi Sad, Serbia + Institute for Children and Youth Health Care of Vojvodina, Novi Sad, SerbiaEuropean Center for Peace and Development, Belgrade, Serbia + University of Novi Sad, Faculty of Medicine, Department of Ginaecology and Obstetrics, Novi Sad, Serbia + University Clinical Center of Vojvodina, Clinic for Gynecology and Obstetrics, Novi Sad, SerbiaIntroduction. Niemann–Pick disease type B is an autosomal recessive disease caused by sphingomyelinase deficiency resulting in sphingomyelin accumulation in macrophages of various organs. Visceral involvement includes spleen enlargement, thrombocytopenia, dyslipidemia, sphingomyelin deposition in lung and liver, and bleeding risk. This is a rare disease and literature data about pregnancy in this setting are scarce. We present two favorable pregnancy outcomes in a patient with Niemann–Pick disease type B along with the review of the literature. Case outline. At the time of the first intended pregnancy, the patient was 34 years old. She had an extremely enlarged spleen, mild restrictive pulmonary disorder, hyperlipoproteinemia type IIb, thrombocytopenia with impaired aggregation tests. Cesarean section was indicated. She was prepared for delivery with platelet concentrates and prophylactic use of antibiotics. In the 36th week of gestation, a Cesarean section without complications was performed. The newborn’s anthropometric parameters were BW 2490, BL 47 cm, HC 32 cm, and Apgar score was 7/8. The infant’s development was normal. Three years later, in the second wanted pregnancy, the same examinations were done. The planned Cesarean section was done without complication after the same procedures, including prophylactic use of antibiotics and platelet concentrates, and a healthy female child was born. Conclusion. A multidisciplinary approach in female patients who suffer from lysosomal storage disease such as Niemann–Pick disease type B is essential and a favorable course is possible despite all risks.https://doiserbia.nb.rs/img/doi/0370-8179/2023/0370-81792300017A.pdflysosomal storage diseasesplatelet aggregationsplenomegalyhistiocytes |
| spellingShingle | Agić Danijela Milošević Ivana Mitić Gorana Kavečan Ivana Stojić Siniša Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review Srpski Arhiv za Celokupno Lekarstvo lysosomal storage diseases platelet aggregation splenomegaly histiocytes |
| title | Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review |
| title_full | Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review |
| title_fullStr | Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review |
| title_full_unstemmed | Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review |
| title_short | Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review |
| title_sort | monitoring of pregnancies with successful deliveries in a niemann pick disease type b patient case report and literature review |
| topic | lysosomal storage diseases platelet aggregation splenomegaly histiocytes |
| url | https://doiserbia.nb.rs/img/doi/0370-8179/2023/0370-81792300017A.pdf |
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