1. LITERATURE REVIEW

2. INTRODUCTION
Griscelli syndrome (GS) is a rare autosomal recessive disorder, characterized by pigmentary dilution of the skin and hair and by abnormal regulation of the immune system resulting in a syndrome of macrophage hyperactivation, known as hemophagocytic lymophohistiocytosis (HLH).

3. PATHOGENESIS
Defect in the RAB27A gene develops an uncontrolled T-lymphocyte and macrophage activation syndrome known as hemophagocytic syndrome (HS) or hemophagocytic lymphohistiocytosis (HLH).  
Defect in the MYO5Agene develop neurologic problems but no immunologic problems.

4. VARIATIONS GRISCELLI SYNDROME TYPE 3 GRISCELLI SYNDROME TYPE 1
Primary dysfunction of central nervous system.
Partial albinism
GRISCELLI SYNDROME TYPE 2
Develops HLH.
GRISCELLI SYNDROME TYPE 3
Partial albinism.

6. CLINICAL PRESENTATION
SKIN MANIFESTATIONS
Granulomatous skin lesions
Partial albinism
Generalized lymphadenopathy.
Silvery gray, silvery, grayish golden, or dusty hair. There may be circumscribed pigment loss.

7. LIVER MANIFESTATIONS
Hepatosplenomegaly and jaundice as a result of hepatitis.

8. NEUROLOGIC MANIFESTATIONS
Hemiparesis
Peripheral facial palsy
Spasticity
Seizures
Psychomotor retardation

9. OCULAR MANIFESTATIONS
Partial ocular albinism has been observed in some patients with Griscelli syndrome

10. WORKUP LABORATORY STUDIES
Characteristic laboratory features include pancytopenia
Hypofibrinogenemia
Hypertriglyceridemia
Hypoproteinemia
Hyperbilirubinemia
Hypogammaglobinemia

11. PERIPHERAL FILM EXAMINATION
The peripheral blood smear shows no giant cytoplasmic granules in leukocytes.
These findings allow Griscelli syndrome to be distinguished from Chediak-Higashi syndrome.

12. BONE MARROW BIOPSY
BMB reveals slight hypocellularity with mild erythroid hyperplasia and hemophagocytosis.

13. HISTOPATHOLOGICAL WORKUP

14. HAIR EXAMINATION
Light microscopy shows irregular, large aggregations of melanin pigment in hair.

15. NORMAL HAIR

16. MICROSCOPIC EVALUATION OF HAIR

17. SKIN BIOPSY
Microscopic examination of the skin shows many mature melanosomes in melanocytes accompanied by few melanosomes in adjoining keratinocytes. 

18. LIVER BIOPSY
Specimens can show marked portal inflammation with focal hepatocellular necrosis.

19. RADIOLOGICAL WORKUP

20. ABDOMINAL ULTRASONOGRAMS
Abdominal ultrasound can show hepatosplenomegaly with intrahepatic cholestasis and absence of bile duct distension.

21. IMAGING STUDIES
Both CT and MRI are used to assess Griscelli syndrome.

22. MOLECULAR STUDIES
PCR can be performed to detect mutations in MYO5A and RAB27A.

23. DIFFERENTIAL DIAGNOSIS
Chediak Higashi syndrome
Partial albinism with immunodeficiency
Elejalde syndrome

24. TREATMENT
Only real treatment for the hemophagocytic lymphohistiocytosis syndromes of which Griscelli syndrome is a part is stem cell transplantation.

25. MEDICAL CARE
Immunosuppressive agents
Antibiotics
Antiepileptics

26. BONE MARROW TRANSPLANTATION
Bone marrow transplantation is the only possible cure for Griscelli syndrome. 
Even a low number of donor cells in the patient's bone marrow can be sufficient to control symptoms of Griscelli syndrome in cases caused by mutations in RAB27A.

27. Collaboration between geneticists, hematologists, dermatologists, neurologists, and pediatricians is required for diagnosis and timely decision regarding treatment.

28. .