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Published on: April 4, 2018
Griscelli syndrome type 2: a rare and lethal disorder
Amira Masri1, Faris G Bakri, Maissa Al-Hussaini
1Department of Pediatrics, Division of child Neurology, Jordan University Hospital, Amman, Jordan. amasri@ju.edu.jo
Journal of Child Neurology
|April 12, 2008
Summary
Griscelli syndrome type 2, a rare disorder, can present with neurological issues like seizures. This case highlights a unique presentation in Jordan, linked to a Rab27a gene mutation.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Griscelli syndrome is a rare autosomal recessive disorder with pigment dilution and immune deficiency.
- It is classified into three types based on genetic and molecular features.
- Type 2 is typically associated with immune deficiency and hemophagocytic syndrome, with primary neurological presentation being rare.
Observation:
- A boy presented with seizures and diffuse white matter involvement.
- These neurological symptoms occurred without the typical features of the accelerated phase of Griscelli syndrome.
- This marks the first reported case of Griscelli syndrome in Jordan.
Findings:
- Genetic analysis revealed a missense mutation in the Rab27a gene in the affected family.
- This mutation is associated with Griscelli syndrome type 2.
- The patient's presentation was atypical for Griscelli syndrome type 2, emphasizing neurological manifestations.
Implications:
- This case expands the understanding of Griscelli syndrome type 2 clinical variability.
- It underscores the importance of considering genetic testing for Rab27a mutations in unexplained neurological disorders.
- The report contributes valuable data on the geographic distribution and rare presentations of Griscelli syndrome.
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