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Journal of Child Neurology
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Article

Griscelli Syndrome Type 2: A Rare and Lethal Disorder

Amira Masri, MD1*, Faris G. Bakri, MD2, Maissa Al-Hussaini, MD, MRCPath3, Azmy Al-Hadidy, MD4, Rania Hirzallah, MD5, Geneviève de Saint Basile, MD, PhD6, and Hanan Hamamy, MD7

1 Department of Pediatrics, Division of child Neurology, Jordan University Hospital, Amman, Jordan
2 Department of Medicine, Division of Infectious Diseases, Jordan University Hospital, Amman, Jordan
3 Jordan University Hospital, Department of Pathology, King Hussein Cancer Center, Amman, Jordan
4 Department of Radiology, Jordan University Hospital, Amman, Jordan
5 Department of Pediatrics, Jordan University Hospital, Amman, Jordan
6 Amman, Jordan, Lab. d’Immuno-Hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France
7 The National Center for Diabetes, Endocrinology, and Genetics, Amman, Jordan

* To whom correspondence should be addressed. E-mail: amasri{at}ju.edu.jo.


  Abstract
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.

First published on April 10, 2008, doi:10.1177/0883073808315409

Journal of Child Neurology 2008;23:964.

A more recent version of this article appeared on August 1, 2008

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