Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report
A 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia. Bone marrow cytology examination demonstrated abundant suspected Gaucher cells. Full-spine MRI exhibited wideni...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1628525/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849412304607641600 |
|---|---|
| author | Mengting Ma Nan Wu Jie Feng Xu Sang Feixiang Duan Congcong Li Qiang Zhang |
| author_facet | Mengting Ma Nan Wu Jie Feng Xu Sang Feixiang Duan Congcong Li Qiang Zhang |
| author_sort | Mengting Ma |
| collection | DOAJ |
| description | A 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia. Bone marrow cytology examination demonstrated abundant suspected Gaucher cells. Full-spine MRI exhibited widening of the distal femoral metaphysis with an “Erlenmeyer flask deformity.” Subsequent enzymatic and genetic evaluations for Gaucher disease (GD) confirmed reduced β-glucocerebrosidase (GBA) activity, significantly elevated glucosylsphingosine (Lyso-Gb1) levels, and a homozygous missense mutation in the GBA gene c. 1448T>C(p.Leu483Pro). Genetic testing of the parents revealed both were heterozygous carriers of the same mutationc. 1448T>C(p.Leu483Pro), confirming the diagnosis of GD in the child with an autosomal recessive inheritance pattern. GD typically presents in childhood with hepatosplenomegaly, anemia, and thrombocytopenia. Given its rarity and nonspecific clinical manifestations, bone marrow cytology and imaging studies may provide diagnostic clues, but definitive diagnosis requires confirmation through β-glucocerebrosidase activity assays and genetic testing. Enzyme replacement therapy (ERT) is currently the primary treatment modality. The child is receiving regular intravenous infusions of imiglucerase at our hospital. |
| format | Article |
| id | doaj-art-84ca7c3209a64ec5beb49cbec19b7eb5 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-84ca7c3209a64ec5beb49cbec19b7eb52025-08-20T03:34:29ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-07-011310.3389/fped.2025.16285251628525Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case reportMengting Ma0Nan Wu1Jie Feng2Xu Sang3Feixiang Duan4Congcong Li5Qiang Zhang6Department of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, ChinaMolecular Diagnosis Center, The First Affiliated Hospital of Bengbu Medical University, Bengbu, ChinaDepartment of Neurosurgery, The First Affiliated Hospital of Bengbu Medical University, Bengbu, ChinaDepartment of Pediatrics, The First Affiliated Hospital of Bengbu Medical University, Bengbu, ChinaDepartment of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, ChinaDepartment of Radiology, The First Affiliated Hospital of Bengbu Medical University, Bengbu, ChinaDepartment of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, ChinaA 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia. Bone marrow cytology examination demonstrated abundant suspected Gaucher cells. Full-spine MRI exhibited widening of the distal femoral metaphysis with an “Erlenmeyer flask deformity.” Subsequent enzymatic and genetic evaluations for Gaucher disease (GD) confirmed reduced β-glucocerebrosidase (GBA) activity, significantly elevated glucosylsphingosine (Lyso-Gb1) levels, and a homozygous missense mutation in the GBA gene c. 1448T>C(p.Leu483Pro). Genetic testing of the parents revealed both were heterozygous carriers of the same mutationc. 1448T>C(p.Leu483Pro), confirming the diagnosis of GD in the child with an autosomal recessive inheritance pattern. GD typically presents in childhood with hepatosplenomegaly, anemia, and thrombocytopenia. Given its rarity and nonspecific clinical manifestations, bone marrow cytology and imaging studies may provide diagnostic clues, but definitive diagnosis requires confirmation through β-glucocerebrosidase activity assays and genetic testing. Enzyme replacement therapy (ERT) is currently the primary treatment modality. The child is receiving regular intravenous infusions of imiglucerase at our hospital.https://www.frontiersin.org/articles/10.3389/fped.2025.1628525/fullGaucher diseaseβ-glucocerebrosidaseMendelian inheritancegenetic testingrare disease |
| spellingShingle | Mengting Ma Nan Wu Jie Feng Xu Sang Feixiang Duan Congcong Li Qiang Zhang Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report Frontiers in Pediatrics Gaucher disease β-glucocerebrosidase Mendelian inheritance genetic testing rare disease |
| title | Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report |
| title_full | Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report |
| title_fullStr | Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report |
| title_full_unstemmed | Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report |
| title_short | Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report |
| title_sort | diagnosis and genetic analysis of gaucher disease in a pediatric case a case report |
| topic | Gaucher disease β-glucocerebrosidase Mendelian inheritance genetic testing rare disease |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1628525/full |
| work_keys_str_mv | AT mengtingma diagnosisandgeneticanalysisofgaucherdiseaseinapediatriccaseacasereport AT nanwu diagnosisandgeneticanalysisofgaucherdiseaseinapediatriccaseacasereport AT jiefeng diagnosisandgeneticanalysisofgaucherdiseaseinapediatriccaseacasereport AT xusang diagnosisandgeneticanalysisofgaucherdiseaseinapediatriccaseacasereport AT feixiangduan diagnosisandgeneticanalysisofgaucherdiseaseinapediatriccaseacasereport AT congcongli diagnosisandgeneticanalysisofgaucherdiseaseinapediatriccaseacasereport AT qiangzhang diagnosisandgeneticanalysisofgaucherdiseaseinapediatriccaseacasereport |