Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease
Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid β-glucosidase due to mutations in the glucocerebrosidase gene. Common features of all types of GD include hepatosplenomegaly, cytopenia, and various patterns of bone and lung involv...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2019-06-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/718 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850025309494050816 |
|---|---|
| author | Burcu Berberoğlu-Ateş Ali Varan Hülya Demir Canan Akyüz Aysel Yüce |
| author_facet | Burcu Berberoğlu-Ateş Ali Varan Hülya Demir Canan Akyüz Aysel Yüce |
| author_sort | Burcu Berberoğlu-Ateş |
| collection | DOAJ |
| description |
Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid β-glucosidase due to mutations in the glucocerebrosidase gene. Common features of all types of GD include hepatosplenomegaly, cytopenia, and various patterns of bone and lung involvement. Retinoblastoma is a malignant tumor of the developing retina that occurs in children, typically before the age of five. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. The association between GD and retinoblastoma has not been reported until now. Here we report the case that was diagnosed with, retinoblastoma at the age of 2 months and then GD at the age of 11 months. Although there are controversies concerning the association between GD and cancer; malignancies should be kept in mind during GD patients follow up.
|
| format | Article |
| id | doaj-art-94b40517c24c426780cb052e2e8e5f49 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-94b40517c24c426780cb052e2e8e5f492025-08-20T03:00:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-06-0161310.24953/turkjped.2019.03.022Coexistence or a related condition: an infant with retinoblastoma and Gaucher diseaseBurcu Berberoğlu-Ateş0Ali Varan1Hülya Demir2Canan Akyüz3Aysel Yüce4Departments of Pediatric Gastroenterology, Hepatology and Nutrition Hacettepe University Faculty of Medicine, Ankara, Turkey.Departments of Pediatric Oncology, Hacettepe University Faculty of Medicine, Ankara, Turkey.Departments of Pediatric Gastroenterology, Hepatology and Nutrition Hacettepe University Faculty of Medicine, Ankara, Turkey.Departments of Pediatric Oncology, Hacettepe University Faculty of Medicine, Ankara, Turkey.Departments of Pediatric Gastroenterology, Hepatology and Nutrition Hacettepe University Faculty of Medicine, Ankara, Turkey. Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid β-glucosidase due to mutations in the glucocerebrosidase gene. Common features of all types of GD include hepatosplenomegaly, cytopenia, and various patterns of bone and lung involvement. Retinoblastoma is a malignant tumor of the developing retina that occurs in children, typically before the age of five. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. The association between GD and retinoblastoma has not been reported until now. Here we report the case that was diagnosed with, retinoblastoma at the age of 2 months and then GD at the age of 11 months. Although there are controversies concerning the association between GD and cancer; malignancies should be kept in mind during GD patients follow up. https://turkjpediatr.org/article/view/718Gaucher diseasecancerretinoblastoma |
| spellingShingle | Burcu Berberoğlu-Ateş Ali Varan Hülya Demir Canan Akyüz Aysel Yüce Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease The Turkish Journal of Pediatrics Gaucher disease cancer retinoblastoma |
| title | Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease |
| title_full | Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease |
| title_fullStr | Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease |
| title_full_unstemmed | Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease |
| title_short | Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease |
| title_sort | coexistence or a related condition an infant with retinoblastoma and gaucher disease |
| topic | Gaucher disease cancer retinoblastoma |
| url | https://turkjpediatr.org/article/view/718 |
| work_keys_str_mv | AT burcuberberogluates coexistenceorarelatedconditionaninfantwithretinoblastomaandgaucherdisease AT alivaran coexistenceorarelatedconditionaninfantwithretinoblastomaandgaucherdisease AT hulyademir coexistenceorarelatedconditionaninfantwithretinoblastomaandgaucherdisease AT cananakyuz coexistenceorarelatedconditionaninfantwithretinoblastomaandgaucherdisease AT ayselyuce coexistenceorarelatedconditionaninfantwithretinoblastomaandgaucherdisease |