Bilateral basal ganglia involvement in a patient with Griscelli syndrome

被引：15

作者：

Ashrafi, Mahmoud Reza ^{[1
]}

Mohseni, Meysam ^{[1
]}

Yazdani, Shahrooz ^{[1
]}

Alizadeh, Houman ^{[1
]}

Ramyar, Asghar ^{[1
]}

Aghamohammadi, Ashar ^{[1
]}

Izadyar, Mina ^{[1
]}

Mahjoub, Fatemeh ^{[1
]}

Heris, Jauad Ahmadian ^{[1
]}

机构：

[1] Univ Tehran Med Sci, Childrens Hosp, Med Ctr, Tehran 1419733151, Iran

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2006年 / 10卷 / 04期

关键词：

Griscelli syndrome; partial albinism; neurological involvement;

D O I：

10.1016/j.ejpn.2006.07.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a 6-year-old Iranian boy with silvery-gray hair, eyelashes and the eyebrows who was admitted because of seizures and subsequent stupor. He had previous history of acute hemiparesis at 1 year of age and hepatitis-like syndrome 3 months ago. Microscopic examination of the patient's hair shaft revealed different sized clumps of melanin seen in the center of the shafts. Bone marrow aspiration revealed erythroid hyperplasia and erythrophagocytic cells. Bilateral frontal cortical and subcortical high signal lesions, dirty white matter, high signal areas in the upper pons and in both caudates and lentiform nuclei in T2 WI were the brain MRI findings of the patient. He died in the accelerated phase of Griscelli Syndrome (GS) type 2. To our knowledge we report the first case of GS from Iran. (C) 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

引用

页码：207 / 209

页数：3

共 5 条

[1] 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

[2]

HURVITZ H, 1993, EUR J PEDIATR, V152, P4

[3] PARTIAL ALBINISM WITH IMMUNODEFICIENCY (GRISCELLI SYNDROME) [J].

KLEIN, C ;

PHILIPPE, N ;

LEDEIST, F ;

FRAITAG, S ;

PROST, C ;

DURANDY, A ;

FISCHER, A ;

GRISCELLI, C .

JOURNAL OF PEDIATRICS, 1994, 125 (06) :886-895

[4] Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature [J].

Mancini, AJ ;

Chan, LS ;

Paller, AS .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1998, 38 (02) :295-300

[5] Griscelli syndrome types 1 and 2 [J].

Ménasché, G ;

Fischer, A ;

Basile, GD .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) :1237-1238

← 1 →