Journal of Child Neurology

 

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0883073808315409v1
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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

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.


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