griscelli syndrome type 2; a pediatric case with immunodeficiency
نویسندگان
چکیده
a 3.5 month-old girl was admitted with silvery gray hair, light colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. peripheral blood smear examination did not show giant granules in granulocytes. on the basis of these clinical and laboratory findings, griscelli syndrome was diagnosed. the child succumbed to infection during an accelerated phase of the disease.
منابع مشابه
Griscelli syndrome type 2; a pediatric case with immunodeficiency.
A 3.5 month-old girl was admitted with silvery gray hair, light colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. ...
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Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the lit...
متن کاملGriscelli Syndrome: A Case Report
OBJECTIVE Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the f...
متن کاملGriscelli syndrome - a case report.
Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery gray hair with large, clumped melanosomes on microscopy of hair shafts are diagnostic. The commonest complication leading to mortality includes lymphohistiocytic proliferation in various organs, including the brain. We present a child with classic clinical features...
متن کاملHematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2.
Partial albinism with variable immunodeficiency are the two major characteristics of Griscelli syndrome type 2 (GS-2). This syndrome is usually associated with a high mortality rate and commonly results in early childhood death. Patients suffer from different infections and experience crisis of HLH. HSCT remains the sole curative treatment for GS-2. We prospectively analyzed the outcomes of tra...
متن کاملgriscelli syndrome: a case report
how to cite this article: mansouri nejad se, yazdan panah mj, tayyebi meibodi n, ashrafzadeh f, akhondian j, beiraghi toosi m, eslamieh h. griscelli syndrome: a case report. iran j child neurol. 2014 autumn;8(4): 72-75. objective griscelli syndrome (gs) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmon...
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عنوان ژورنال:
iranian journal of allergy, asthma and immunologyجلد ۶، شماره ۳، صفحات ۱۵۵-۱۵۸
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