Griscelli Syndrome in a seven years old girl

被引:5
作者
Moradveisi, Borhan [1 ]
Karimi, Avat [2 ]
Behzadi, Shirin [2 ]
Zakaryaei, Farima [3 ]
机构
[1] Kurdistan Univ Med Sci, Res Inst Hlth Dev, Canc & Immunol Res Ctr, Sanandaj, Iran
[2] Kurdistan Univ Med Sci, Dept Pediat, Sanandaj, Iran
[3] Kurdistan Univ Med Sci, Dept Emergency Med, Sanandaj, Iran
关键词
distribution of pigments in the shaft; griscelli syndrome; pancytopenia; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; MUTATIONS; RAB27A;
D O I
10.1002/ccr3.4212
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
In this study, a case of Griscelli Syndrome (GS) in a 7 years old girl was reported. The patient initially presented with fever and pancytopenia in laboratory results; after ruling out the malignancies, she went under treatment with the diagnosis of infectious disease and was discharged after two weeks. Nevertheless, ten days after discharge, she developed new symptoms. Due to patient symptoms and general appearance, microscopic analysis of her hair shaft was done, and the abnormal distribution of pigments in the shaft was observed, indicating GS.
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页数:5
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共 20 条
[1]   Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A [J].
Anikster, Y ;
Huizing, M ;
Anderson, PD ;
Fitzpatrick, DL ;
Klar, A ;
Gross-Kieselstein, E ;
Berkun, Y ;
Shazberg, G ;
Gahl, WA ;
Hurvitz, H .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) :407-414
[2]  
Bahrami A., ACTA MED IRAN, V58, P38
[3]  
Bellinati-Pires R., 1992, ALERGIA IMUNOLOGIA P, V1, P165
[4]   Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP) [J].
Cesaro, Simone ;
Locatelli, Franco ;
Lanino, Edoardo ;
Porta, Fulvio ;
Di Maio, Lucia ;
Messina, Chiara ;
Prete, Arcangelo ;
Ripaldi, Mimmo ;
Maximova, Natasha ;
Giorgiani, Giovanna ;
Rondelli, Roberto ;
Arico, Maurizio ;
Fagioli, Franca .
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2008, 93 (11) :1694-1701
[5]  
De saint basile G., 2003, GRISCELLI SYNDROME O
[6]   Molecular Analysis and Clinical Findings of Griscelli Syndrome Patients [J].
Durmaz, Asude ;
Ozkinay, Ferda ;
Onay, Huseyin ;
Tombuloglu, Murat ;
Atay, Avni ;
Gursel, Orhan ;
Peker, Erdal ;
Atmaca, Murat ;
Genel, Ferah ;
Bozabali, Sibel ;
Akin, Haluk ;
Ozkinay, Cihangir .
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2012, 34 (07) :541-544
[7]   SYNDROME ASSOCIATING PARTIAL ALBINISM AND IMMUNODEFICIENCY [J].
GRISCELLI, C ;
DURANDY, A ;
GUYGRAND, D ;
DAGUILLARD, F ;
HERZOG, C ;
PRUNIERAS, M .
AMERICAN JOURNAL OF MEDICINE, 1978, 65 (04) :691-702
[8]   Silvery hair with bronze-tan in a child: A case of Elejalde disease [J].
Inamadar, Arun C. ;
Palit, Apama .
INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2007, 73 (06) :417-419
[9]   Familial and acquired hemophagocytic lymphohistiocytosis [J].
Janka, Gritta E. .
EUROPEAN JOURNAL OF PEDIATRICS, 2007, 166 (02) :95-109
[10]   Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome [J].
Ménasché, G ;
Pastural, E ;
Feldmann, J ;
Certain, S ;
Ersoy, F ;
Dupuis, S ;
Wulffraat, N ;
Bianchi, D ;
Fischer, A ;
Le Deist, F ;
de Saint Basile, G .
NATURE GENETICS, 2000, 25 (02) :173-176