Griscelli syndrome

Griscelli syndrome is a rare genetic disorder characterized by partial albinism and in some types associated with immunodeficiency.

Albinism is the lack of melanin. Melanin is a pigment that gives color to the eyes, the hair and the skin.

Immunodeficiency refers to a weaken immune system that cannot fight off infections or viruses effectively.

Griscelli syndrome is very similar to Chediak-Higashi syndrome except for the giant granules in leukocytes present in the Chediak-Higashi syndrome.

People with Griscelli syndrome usually have the following symptoms:

• Albinism (hypopigmentation): People with the disorder have silvery hair and clumps of pigment in the hair shafts.
• Hemophagocytic syndrome: Some blood cells in the body engulf and destroy other blood cells. There is a decrease in the number of WBCs (White Blood Cells) and platelets in the blood that lead to frequent infections.
• Neurological disorders: Spasticity (uncontrolled muscular contractions), rigidity and convulsions.

Griscelli syndrome is a congenital and genetic disorder that is inherited with autosomal recessive pattern so it is necessary to inherit the same gene altered from both parents to suffer the disease.

There are three different types:

• Type 1: The common features are partial albinism and primary neurologic disorders, but they do not develop hemophagocytic syndrome. The mutated gene is MYO5A located on the long end of chromosome 15 (15q21.2), the gene that encodes myosin VA (a protein in muscle tissue).
• Type 2: The common features are partial albinism and hemophagocytic syndrome .The mutated gene is RAB27A located on the chromosome 15 (15q21.3). It is the most severe type with serious immunodeficiency.
• Type 3: They only show partial albinism. The mutated gene is MLPH located on chromosome 2 (2q37.3). It is the most benign type.

In patients who suffer hemophagocytic syndrome associated with Griscelli syndrome, the recommended treatment is allogenic bone marrow transplantation. Otherwise, the prognosis of the disorder is poor.