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Griscelli Syndrome Type 2: A Rare and Lethal Disorder

Department of Pediatrics, Division of child Neurology, Jordan University Hospital, amasri{at}ju.edu.jo

Faris G. Bakri, MD

Department of Medicine, Division of Infectious Diseases, Jordan University Hospital

Maissa Al-Hussaini, MD, MRCPath

Department of Pathology, The National Center for Diabetes, Endocrinology, and Gentics Amman

Azmy Al-Hadidy, MD

Department of Radiology, Jordan University Hospital

Rania Hirzallah, MD

Department of Pediatrics Jordan University Hospital

Geneviève de Saint Basile, MD, PhD

Lab. d'Immuno-Hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France

Hanan Hamamy, MD

King Hussein Cancer Center, The National Center for Diabetes, Endocrinology, and Genetics Amman, Jordan

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.

Key Words: Griscelli syndrome • Rab27a • hemophagocytic syndrome

This version was published on August 1, 2008

Journal of Child Neurology, Vol. 23, No. 8, 964-967 (2008)
DOI: 10.1177/0883073808315409


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