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Journals / The Journal of Pediatric Research / 2019 / Cilt: 6 - Sayı: 3

Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome

Ersin TORET
Yılmaz AY
Serap AKSOYLAR
Tuba Hilkay KARAPINAR
Yeşim OYMAK
Pages
252–255
DOI
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AI Summary & Key Takeaways

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

We report on a 21-month old boy with cerebral involvement of HLH related to GS.

📌 3 Key Takeaways

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Objective & Hypothesis:Type II Griscelli Syndrome (GS) is caused by a mutation in the RAB27A gene and usually manifests with silvery-gray hair, immune deficiency and the development of hemophagocytic lymphohistiocytosis (HLH).
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Key Findings & Data:A hematopoietic stem cell transplantation is the curative treatment for HLH and reduced-intensity conditioning prevents the morbidity/mortality in the transplantation related to myeloablative conditioning.
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Conclusion & Impact:We report on a 21-month old boy with cerebral involvement of HLH related to GS.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Type II Griscelli Syndrome (GS) is caused by a mutation in the RAB27A gene and usually manifests with silvery-gray hair, immune deficiency and the development of hemophagocytic lymphohistiocytosis (HLH). A hematopoietic stem cell transplantation is the curative treatment for HLH and reduced-intensity conditioning prevents the morbidity/mortality in the transplantation related to myeloablative conditioning. We report on a 21-month old boy with cerebral involvement of HLH related to GS.

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Cite This Article

TORET, E., AY, Y., AKSOYLAR, S., KARAPINAR, T. H., OYMAK, Y. (2019). Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome. The Journal of Pediatric Research, Cilt: 6 - Sayı: 3, 252–255. https://ajindex.com/articles/362793

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