Griscelli syndrome type 2 and diagnostic test in general hospital: Case report

Abstract

Background: Griscelli syndrome type 2 is a rare autosomal recessive disorder. It is characterized by silvery gray hair and immunodeficiency. The disease prognosis is poor which most patients die within the first 5 years of their life. The early diagnosis increases patients’ survival.
Objective: To report the patient of Griscelli syndrome type 2 of Nan hospital and the method of diagnostic test in a general hospital.
Method: Case report
Results: A 4-month-old Thai boy presented with fever, cough, and rhinorrhea four days prior to admission. He was diagnosed with bacterial pneumonia, considering his recurrent infections, and born form a consanguineous marriage. Physical examination showed slivery gray hair of the scalp, white eyelashes, white eyebrows and hepatosplenomegaly. His peripheral blood smear illustrated bicytopenia and lack of giant cytoplasmic granules in leukocytes. Light microscopy of hair showed large and irregular pattern of melanin. Correlating of clinical features and investigation suspected Griscelli syndrome type 2. Therefore he was referred to a tertiary care hospital for molecular diagnostic tests which mutant RAB27A gene was reported and Griscelli syndrome type 2 was confirmed.
Conclusion: Two basic investigations including peripheral blood smear and light microscopy of hair are crucial for differentiating and diagnosis of Griscelli syndrome type 2.