Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome
Journal Title: The Journal of Pediatric Research - Year 2019, Vol 6, Issue 3
Abstract
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.
Authors and Affiliations
Ersin Töret, Yılmaz Ay, Serap Aksoylar, Tuba Hilkay Karapınar, Yeşim Oymak
Keywords
Related Articles
- EP ID EP656837
- DOI 10.4274/jpr.galenos.2018.33254
- Views 91
- Downloads 0
Psychometric Properties of the Turkish Version of “Inventory of Callous-Unemotional Traits-Youth Form”
Aim: Callous and unemotional traits such as the inability to make emotional communication, and the lack of feelings of guilt and empathy are frequently found in the young with antisocial manners, who are at increased ris...
Urea Cycle Disorders in Neonates: Six Case Reports
Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 a...
“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countr...
Congenital Penil Lymphedema in a Preterm Neonate
Congenital penile lymph edema is a rare anomaly of unknown cause of the lymphatic vessels. Lymphedema is often the shortage of lymphatic collecting ducts, lymphatic hypoplasia, hyperplasia, as a result of aphasia or lymp...
Lymphadenopathies: An Annoyance or Not?
Aim: The aim of this study was to evaluate the cases hospitalized with lymphadenopathy in terms of demographic and clinical characteristics, lymph node involvement regions, infection markers and their diagnoses. Materia...