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格里塞利综合征

Griscelli syndrome.

作者信息

Rath Sanjeev, Jain Vivek, Marwaha R K, Trehan Amita, Rajesh L S, Kumar Vijay

机构信息

Division of Pediatric Hematology and Oncology, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Indian J Pediatr. 2004 Feb;71(2):173-5. doi: 10.1007/BF02723104.

DOI:10.1007/BF02723104
PMID:15053385
Abstract

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.

摘要

一名八个月大的男婴出现反复感染和部分白化病症状。最初考虑了切-东综合征(CHS)的可能性,但检查结果为阴性促使我们寻找其他诊断。文献检索显示,格里塞利综合征(GS)有重叠的症状和体征。格里塞利综合征在皮肤和毛发活检中的表现很独特。

相似文献

1
Griscelli syndrome.格里塞利综合征
Indian J Pediatr. 2004 Feb;71(2):173-5. doi: 10.1007/BF02723104.
2
Griscelli syndrome: Rab 27a mutation.格里塞利综合征:Rab 27a 突变。
Indian Pediatr. 2004 Sep;41(9):944-7.
3
Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.皮肤活检作为诊断银发综合征工具的实用性。
Pediatr Dermatol. 2018 Nov;35(6):780-783. doi: 10.1111/pde.13624. Epub 2018 Oct 18.
4
[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].[噬血细胞综合征揭示2型格里塞利综合征]
Ann Biol Clin (Paris). 2013 Jul-Aug;71(4):461-4. doi: 10.1684/abc.2013.0860.
5
Griscelli syndrome: a new phenotype with circumscribed pigment loss?格里塞利综合征:一种伴有局限性色素脱失的新表型?
Dermatol Online J. 2007 May 1;13(2):17.
6
[The Griscelli-Prunieras syndrome: a case report].[格里塞利-普吕尼埃拉综合征:一例报告]
Bol Med Hosp Infant Mex. 1993 Jul;50(7):503-7.
7
[Griscelli syndrome: a case report].
Klin Padiatr. 2003 Mar-Apr;215(2):82-5. doi: 10.1055/s-2003-38501.
8
Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes.毛发轴的偏振光显微镜检查有助于鉴别诊断切迪阿克-东综合征和格里斯塞利-普吕尼埃拉综合征。
Clinics (Sao Paulo). 2006 Aug;61(4):327-32. doi: 10.1590/s1807-59322006000400009.
9
Seizure as the presenting manifestation in Griscelli syndrome type 2.癫痫发作作为2型格里塞利综合征的首发表现。
Pediatr Neurol. 2015 May;52(5):535-8. doi: 10.1016/j.pediatrneurol.2015.01.010. Epub 2015 Jan 26.
10
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.伴有免疫缺陷的部分白化病:格里谢利综合征:1例报告并文献复习
J Am Acad Dermatol. 1998 Feb;38(2 Pt 2):295-300. doi: 10.1016/s0190-9622(98)70568-7.

引用本文的文献

1
Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome.患有格里塞利综合征的儿童股骨骨折后的急性期反应。
Turk J Anaesthesiol Reanim. 2014 Jun;42(3):154-7. doi: 10.5152/TJAR.2014.08769. Epub 2014 Mar 11.
2
An Indian boy with griscelli syndrome type 2: case report and review of literature.一名患有2型格里塞利综合征的印度男孩:病例报告及文献综述。
Indian J Dermatol. 2014 Jul;59(4):394-7. doi: 10.4103/0019-5154.135494.
3
Chédiak-higashi syndrome: a case report.切-东综合征:一例报告

本文引用的文献

1
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.RAB27A基因的突变会导致与噬血细胞综合征相关的格里塞利综合征。
Nat Genet. 2000 Jun;25(2):173-6. doi: 10.1038/76024.
2
Hemophagocytic lymphohistiocytosis: a case series.
Indian Pediatr. 2000 May;37(5):526-31.
3
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.伴有免疫缺陷的部分白化病:格里谢利综合征:1例报告并文献复习
J Am Acad Dermatol. 1998 Feb;38(2 Pt 2):295-300. doi: 10.1016/s0190-9622(98)70568-7.
Indian J Hematol Blood Transfus. 2013 Jun;29(2):80-3. doi: 10.1007/s12288-011-0130-y. Epub 2012 Feb 1.
4
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.格里塞利综合征定位于15号染色体长臂21区,与肌球蛋白Va基因突变有关。
Nat Genet. 1997 Jul;16(3):289-92. doi: 10.1038/ng0797-289.
5
Griscelli syndrome: report of three cases.
Pediatr Pathol Lab Med. 1995 Mar-Apr;15(2):309-19. doi: 10.3109/15513819509026966.
6
Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant).白化病与免疫缺陷相关综合征(切迪阿克-希加希综合征及变异型)的产前诊断
Prenat Diagn. 1993 Jan;13(1):13-20. doi: 10.1002/pd.1970130104.
7
A kindred with Griscelli disease: spectrum of neurological involvement.一个患有格里塞利病的家族:神经受累谱。
Eur J Pediatr. 1993 May;152(5):402-5. doi: 10.1007/BF01955897.
8
Partial albinism with immunodeficiency (Griscelli syndrome).伴有免疫缺陷的部分白化病(格里塞利综合征)。
J Pediatr. 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7.
9
Treatment of four patients with erythrophagocytic lymphohistiocytosis by a combination of epipodophyllotoxin, steroids, intrathecal methotrexate, and cranial irradiation.
Pediatrics. 1985 Aug;76(2):263-8.
10
Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome).针对色素稀释和淋巴细胞组织细胞增多综合征(格里斯塞利综合征)的骨髓移植
J Clin Immunol. 1990 May;10(3):146-53. doi: 10.1007/BF00917914.