| Griscelli syndrome type 2: a rare and lethal disorder. | |
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MedLine Citation:
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PMID: 18403584 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Griscelli syndrome is a rare autosomal recessive disorder. It is characterized by pigment dilution and variable immune deficiency leading to increased susceptibility to certain infections and a tendency to develop a life-threatening hemophagocytic syndrome known as the accelerated phase. Griscelli syndrome is now classified into 3 types based on the genetic and molecular features. Primary neurological presentation without the accelerated phase is rare in type 2. In this article, the authors report a boy who was presented with seizures and diffuse white matter involvement unaccompanied by the other features of the accelerated phase. Mutation analysis in family members revealed the presence of a missense mutation in Rab27a gene. In addition to the rare presentation, this is the first case of Griscelli syndrome to be reported from Jordan. |
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Authors:
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Amira Masri; Faris G Bakri; Maissa Al-Hussaini; Azmy Al-Hadidy; Rania Hirzallah; Geneviève de Saint Basile; Hanan Hamamy |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-04-10 |
Journal Detail:
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Title: Journal of child neurology Volume: 23 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2008 Aug |
Date Detail:
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Created Date: 2008-07-28 Completed Date: 2008-10-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 964-7 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Division of child Neurology, Jordan University Hospital, Amman, Jordan. amasri@ju.edu.jo |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Albinism
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diagnosis,
genetics* Brain / pathology Child Chromosome Aberrations* Chromosomes, Human, Pair 15 / genetics Consanguinity DNA Mutational Analysis Demyelinating Diseases / diagnosis, genetics* Disease Progression Epilepsy, Tonic-Clonic / diagnosis, genetics Fatal Outcome Genes, Recessive / genetics* Hair / pathology Humans Jordan Lymphohistiocytosis, Hemophagocytic / genetics* Magnetic Resonance Imaging Male Melanins / metabolism Mutation, Missense / genetics* Seizures / diagnosis, genetics* Syndrome rab GTP-Binding Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Melanins; EC 3.6.1.-/rab GTP-Binding Proteins; EC 3.6.1.-./RAB27A protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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