Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report
Abstract Background Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are u...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-01-01
|
| Series: | BMC Pregnancy and Childbirth |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12884-024-07115-5 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841559058493997056 |
|---|---|
| author | Maxime Agranier Florence Demurger Christele Dubourg Jerome Fromageot Anne-Sophie Cabaret Dufour Erika Launay Magalie Gournay Charles Lefèvre Roseline Froissart Magali Pettazzoni Paul Rollier |
| author_facet | Maxime Agranier Florence Demurger Christele Dubourg Jerome Fromageot Anne-Sophie Cabaret Dufour Erika Launay Magalie Gournay Charles Lefèvre Roseline Froissart Magali Pettazzoni Paul Rollier |
| author_sort | Maxime Agranier |
| collection | DOAJ |
| description | Abstract Background Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period. The most prevalent etiologies are infections, anemia, and neoplasms. Case presentation A pregnant woman at 26.5 gestational weeks was referred to our center for fetal ultrasound findings of hepatosplenomegaly, distinct facial features, and liver, spleen and thymus echogenic spots. Whole exome sequencing after amniocentesis identified two likely pathogenic IDUA gene variants (in trans), raising suspicion of a diagnosis of MPS I. MPS I was confirmed by the deficiency of α-L-iduronidase activity in amniotic cells. A medical pregnancy termination was carried out due to the severe prognosis. After termination of pregnancy, external examination of the fetus confirmed hepatosplenomegaly and coarse dysmorphic features. Conclusion Lysosomal storage diseases (LSD) are a rare cause of prenatal hepatosplenomegaly, but this has not been described in MPS I according to our literature search. The genetic variants identified in this case prompted early diagnosis through genome-wide studies. This rare presentation of MPS I highlights the expanding role of genomic analyses in diagnosing conditions during pregnancy. |
| format | Article |
| id | doaj-art-45e293451247472a9b1e49cf1d50c9ef |
| institution | Kabale University |
| issn | 1471-2393 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pregnancy and Childbirth |
| spelling | doaj-art-45e293451247472a9b1e49cf1d50c9ef2025-01-05T12:49:27ZengBMCBMC Pregnancy and Childbirth1471-23932025-01-012511610.1186/s12884-024-07115-5Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-reportMaxime Agranier0Florence Demurger1Christele Dubourg2Jerome Fromageot3Anne-Sophie Cabaret Dufour4Erika Launay5Magalie Gournay6Charles Lefèvre7Roseline Froissart8Magali Pettazzoni9Paul Rollier10Laboratory of Cytogenetics and Cell Biology, Rennes University HospitalBretagne Atlantique Hospital, Department of PaediatricsLaboratory of Molecular Genetics and Medical Genomics, Rennes University HospitalDepartment of Gynaecology Obstetrics, Bretagne Atlantique HospitalDepartment of Gynaecology Obstetrics, Rennes University HospitalLaboratory of Cytogenetics and Cell Biology, Rennes University HospitalAnatomico-Pathological Laboratory, Vannes HospitalLaboratory of Molecular Genetics and Medical Genomics, Rennes University HospitalLaboratory of Biochemistry and Molecular Biology, Lyon University HospitalLaboratory of Biochemistry and Molecular Biology, Lyon University HospitalDepartment of Clinical Genetics, Rennes University HospitalAbstract Background Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period. The most prevalent etiologies are infections, anemia, and neoplasms. Case presentation A pregnant woman at 26.5 gestational weeks was referred to our center for fetal ultrasound findings of hepatosplenomegaly, distinct facial features, and liver, spleen and thymus echogenic spots. Whole exome sequencing after amniocentesis identified two likely pathogenic IDUA gene variants (in trans), raising suspicion of a diagnosis of MPS I. MPS I was confirmed by the deficiency of α-L-iduronidase activity in amniotic cells. A medical pregnancy termination was carried out due to the severe prognosis. After termination of pregnancy, external examination of the fetus confirmed hepatosplenomegaly and coarse dysmorphic features. Conclusion Lysosomal storage diseases (LSD) are a rare cause of prenatal hepatosplenomegaly, but this has not been described in MPS I according to our literature search. The genetic variants identified in this case prompted early diagnosis through genome-wide studies. This rare presentation of MPS I highlights the expanding role of genomic analyses in diagnosing conditions during pregnancy.https://doi.org/10.1186/s12884-024-07115-5Mucopolysaccharidosis IPrenatal diagnosisHepatosplenomegalyLysosomal storage diseasesExome sequencingIDUA gene |
| spellingShingle | Maxime Agranier Florence Demurger Christele Dubourg Jerome Fromageot Anne-Sophie Cabaret Dufour Erika Launay Magalie Gournay Charles Lefèvre Roseline Froissart Magali Pettazzoni Paul Rollier Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report BMC Pregnancy and Childbirth Mucopolysaccharidosis I Prenatal diagnosis Hepatosplenomegaly Lysosomal storage diseases Exome sequencing IDUA gene |
| title | Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report |
| title_full | Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report |
| title_fullStr | Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report |
| title_full_unstemmed | Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report |
| title_short | Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report |
| title_sort | prenatal diagnosis of mucopolysaccharidosis type i on hepatosplenomegaly and coarse features a case report |
| topic | Mucopolysaccharidosis I Prenatal diagnosis Hepatosplenomegaly Lysosomal storage diseases Exome sequencing IDUA gene |
| url | https://doi.org/10.1186/s12884-024-07115-5 |
| work_keys_str_mv | AT maximeagranier prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT florencedemurger prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT christeledubourg prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT jeromefromageot prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT annesophiecabaretdufour prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT erikalaunay prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT magaliegournay prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT charleslefevre prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT roselinefroissart prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT magalipettazzoni prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport AT paulrollier prenataldiagnosisofmucopolysaccharidosistypeionhepatosplenomegalyandcoarsefeaturesacasereport |