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Journals / Turkish Journal of Pediatrics / 2019 / Cilt: 61 - Sayı: 3

Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease

Burcu Berberoğlu ATEŞ
Ali VARAN
Hülya DEMİR
Canan AKYÜZ
Aysel YÜCE
Pages
449–452
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here we report the case that was diagnosed with, retinoblastoma at theage of 2 months and then GD at the age of 11 months.Although there are controversies concerning the association between GD andcancer; malignancies should be kept in mind during GD patients follow up.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Gaucher disease (GD) is the most prevalant lysosomal lipid storage diseasethat results from loss of function of acid β-glucosidase due to mutations inthe glucocerebrosidase gene.
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Key Findings & Data:Retinoblastoma develops from cellsthat have cancer-predisposing variants in both copies of RB1.The association between GD and retinoblastoma has not been reported untilnow.
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Conclusion & Impact:Here we report the case that was diagnosed with, retinoblastoma at theage of 2 months and then GD at the age of 11 months.Although there are controversies concerning the association between GD andcancer; malignancies should be kept in mind during GD patients follow up.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Gaucher disease (GD) is the most prevalant lysosomal lipid storage diseasethat results from loss of function of acid β-glucosidase due to mutations inthe glucocerebrosidase gene. Common features of all types of GD includehepatosplenomegaly, cytopenia, and various patterns of bone and lunginvolvement.Retinoblastoma is a malignant tumor of the developing retina that occurs inchildren, typically before the age of five. Retinoblastoma develops from cellsthat have cancer-predisposing variants in both copies of RB1.The association between GD and retinoblastoma has not been reported untilnow. Here we report the case that was diagnosed with, retinoblastoma at theage of 2 months and then GD at the age of 11 months.Although there are controversies concerning the association between GD andcancer; malignancies should be kept in mind during GD patients follow up.

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Cite This Article

ATEŞ, B. B., VARAN, A., DEMİR, H., AKYÜZ, C., YÜCE, A. (2019). Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 3, 449–452. https://ajindex.com/articles/411894

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