Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant.Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase.We believe this is only the second reported case of CHS in Malaysia.

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant.Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase.We believe this is only the second reported case of CHS in Malaysia.

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant.Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase.We believe this is only the second reported case of CHS in Malaysia.

Introduction: Invasive pneumococcal disease (IPD) a leading cause of death and morbidity in children below five-yearsold. This study aims to compare the varied presentation and clinical course of IPD in two different tertiary hospitals in Malaysia. Methodology: A retrospective study of all positive Streptococcus pneumoniae isolates consistent with invasive disease from children below 14 years of age hospitalised in two tertiary hospitals; between year 2012 and 2016 was conducted. IPD cases were defined as isolates of S. pneumoniae from a normally sterile body fluid site. Results: Fifty-four patients were identified in both centres, 35 (65%) from HRPB as compared to 19 (35%) from HS. Majority of cases (14/35, 40 %) in HRPB were of Orang Asli in comparison to Malay children (16/19, 84%) in HS. Septicaemia, pneumonia and meningitis were the most common clinical presentation of IPD in both centres. There was a noticeably higher percentage of isolates found to be non-susceptible (NS) in HS (62.5%) as compared to HRPB (37.5%) although of no statistical significance. Mortality rate was higher in HRPB (26%) in comparison to 11% in HS. Conclusion: This study highlighted the varied presentation of IPD in two different hospital settings. Although both deemed as urban centres, this study emphasises the importance of understanding socio-demography, health facility availability and primary care practices as it significantly alters the clinical course of a disease.