Journal of Clinical Case Reports

Noufa Alonazi

Publications

• Case Report
  Griscelli Syndrome Type 3: A Case Report from Kingdom of Saudi Arabia
  Author(s): Noufa Alonazi, Aisha Alanazi, Rozeena Huma, Abdulrahman Alnemri and Abbas HawwariNoufa Alonazi, Aisha Alanazi, Rozeena Huma, Abdulrahman Alnemri and Abbas Hawwari
  
  Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. GSis a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types. The three different types of GS are caused by mutations in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, resulting from mutations in the MYO5A gene. Type 2 patients commonly develop hemophagocytic. Lymphohistiocytosis, caused by mutations in the RAB27A gene, and type 3 have only partial albinism resulting from mutations in the MLPH. While hematopoietic stem cell transplantation is lifesaving in type 2, no specific therapy is required for types 1 and 3. Patients with GS types 1 and 3 are very rare. To date, 12 patients with similar presentation of GS-3 as our case have been reported. About 20 GS type 1 patients, including the pat.. Read More»
  DOI: 10.4172/2165-7920.1000750

  Abstract PDF