Griscelli Syndrome presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis

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dc.authorid0000-0002-2448-1270
dc.authorid0000-0002-0202-8555
dc.contributor.authorDemircioğlu, Fatih
dc.contributor.authorAydın, Hilal
dc.contributor.authorErkoçoğlu, Mustafa
dc.contributor.authorÖnay, Hüseyin
dc.contributor.authorDağıstan, Emine
dc.date.accessioned2021-06-23T18:40:20Z
dc.date.available2021-06-23T18:40:20Z
dc.date.issued2017
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractA 12-month-old female infant was referred to our hospital with prolonged fever and status epilepticus. Her weight and height were below the 5th percentile for age. Physical examination revealed marked hypotonia, fever, pallor, partial albinism with silvery gray hair, and hepatosplenomegaly (Figure 1A). Laboratory investigations showed anemia, thrombocytopenia, hypofibrinogenemia, hyperferritinemia, and hemophagocytosis at bone marrow examination (Figure 1B). Lymphocyte subsets and serum immunoglobulin levels were normal. Hair examination showed irregularly scanty melanin pigments (Figure 1C). Electroencephalographic study revealed encephalopathic findings, including decreased background activity with continuous slow wave discharges. Brain magnetic resonance imaging showed diffuse cerebral involvement (Figure 2). RAB27A encoding gene C.149delG mutation was detected. We diagnosed Griscelli syndrome (GS) with hemophagocytic lymphohistiocytosis (HLH). She received the HLH-2004 treatment protocol. The patient showed complete hematological response to treatment and was discharged after 1 month with persistent neurological involvement. Although bone marrow transplantation is the only curative therapy for GS, we did not plan bone marrow transplantation due to the severe neurological sequela. The patient died due to progressive disease after 6 months.
dc.identifier.endpage121en_US
dc.identifier.issn1300-7777
dc.identifier.issn1308-5263
dc.identifier.issue1en_US
dc.identifier.pmid#YOKen_US
dc.identifier.scopus2-s2.0-85014433139en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage120en_US
dc.identifier.trdizinidTR-DizinIDen_US
dc.identifier.urihttps://app.trdizin.gov.tr/makale/TWpnek9UVTBOQT09
dc.identifier.urihttps://hdl.handle.net/20.500.12491/3065
dc.identifier.volume34en_US
dc.identifier.wosWOS:000398059500029en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.institutionauthorDemircioğlu, Fatih
dc.institutionauthorAydın, Hilal
dc.institutionauthorErkoçoğlu, Mustafa
dc.institutionauthorDağıstan, Emine
dc.language.isoenen_US
dc.relation.ispartofTurkish Journal of Hematologyen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChildrenen_US
dc.subjectGriscelli Syndrome
dc.subjectStatus Epilepticus
dc.subjectHemophagocytic Lymphohistiocytosis
dc.subjectÇocuk
dc.subjectGriscelli Sendromu
dc.subjectStatus Epileptikus
dc.subjectHemofagositik Lenfohistiyositoz
dc.titleGriscelli Syndrome presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosisen_US
dc.title.alternativeStatus Epileptikus ve Hemofagositik Lenfohistiyositoz ile başvuran Griscelli Sendromuen_US
dc.typeOtheren_US

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