Griscelli Syndrome
نویسندگان
چکیده
منابع مشابه
Cerebellar involvement of Griscelli syndrome type 2.
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 کاملLight and scanning electron microscopic examination of hair in Griscelli syndrome.
Griscelli syndrome is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency, and an acute phase of uncontrolled T-lymphocyte, and macrophage activation. Griscelli et al described this syndrome in 1978. Since then, only in approximately 60 cases have been reported, most from the Turkish, and Mediterranean population. In microscopic examination, si...
متن کاملPolarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes.
PURPOSE To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS Under light microscopy, hairs from Chédiak-Higashi patients presented evenly...
متن کاملPaediatric Dermatology Column: Case Report Silvery hair syndromes: report of familial cases of Griscelli syndrome in three siblings
Silvery hair is a rare clinical feature, common in a group of rare syndromes, which usually present in the paediatric age group termed together as "silvery hair syndromes". We report a consanguineous family in which three out of four siblings had silvery hair and neurological deficits and were diagnosed to have Griscelli syndrome. The diagnosis of Griscelli syndrome in our cases was based on cl...
متن کاملGriscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2004