Clinical-Epidemiological Pattern of Primary Immunodeficiencies in Malaysia 1987-2006: A 20 year experience in Four Malaysian Hospitals.

AIM OF STUDY: To determine the clinical and epidemiological characteristics of patients seen with primary immunodeficiencies referred at four Malaysian Hospitals between 1987 to 2007. METHODS: Patient data were retrospectively obtained from patient records and supplemented by information from a standardized questionnaires taken at the time of diagnosis from 4 participating hospitals. The completed data were transferred to document records kept by the first author. The diagnoses made were based on criteria set by WHO Scientific Committee 1986. RESULTS: Fifty one (51) patients with completed records satisfied the criteria of primary immunodeficiencies based on WHO Scientific Committee 1986. Predominant Antibody deficiency (40.4%) is the commonest of the class of primary immunodeficiency (based on modified IUIS classification) followed by phagocytic defect (17.3%), combined immunodeficiencies (15.4%) and other cellular immunodeficiencies (11.5%). The commonest clinical presentation is pneumonia (54%) . A positive Family history with a close family relative afflicted was a strong pointer to diagnosis for PID (52.6%) Primary immnodeficiencies are seen in all the major ethnic groups of Malaysia, predominantly among Malays. As observed in other patient registries, diagnostic delay remains the major cause of morbidity and mortality. CONCLUSION: Primary immunodeficiencies is relative rare but is an emerging disease in Malaysia. Creating awareness of the disease, may reveal more cases within the community. It is sufficient to be a health issue in Malaysia as in other developing countries in the future.

Subdural collections due to non-typhi Salmonella infections in two Malaysian children.

Subdural collections caused by Salmonella infection are rarely encountered in children. We present two cases caused by non-typhi Salmonella, one a four-and-a-half-month-old boy presenting with subdural effusion, and the other, a 16-month-old boy with empyema. The diagnosis was confirmed on blood and subdural pus cultures. One patient had status epilepticus following focal fit, and the other had prolonged fever without any localising signs of infection on admission. They responded well to prompt surgical drainage and prolonged systemic antibiotic therapy. Contrary to previous reports, both patients showed favourable outcome in terms of neurological sequelae.

Severe leptospirosis with unusual manifestation.

We report a case of an 8-year-old aborigine boy referred to our hospital for respiratory insufficiency with skin eruptions over the trunk and limbs. The skin condition was diagnosed as acquired ichthyosis. He also had a non-bleeding form of disseminated intravascular coagulopathy. Radiograph of the lungs showed bilateral perihilar opacities with bilateral pleural effusion. The diagnosis of leptospirosis was confirmed by a 4-fold rise in microagglutinating titre and polymerase chain reaction assay.

An abdominal mass owing to Penicillium marneffei in an HIV-infected 7-year-old boy: case report.

A 7-year-old boy, referred with lymphoma, presented with prolonged fever and intra-abdominal lymphadenopathy demonstrated on computed tomography (CT) of the abdomen. Blood culture isolated Penicillium marneffei. The patient was subsequently proven serologically to be positive for human immunodeficiency virus (HIV). Treatment with amphotericin B followed by itraconazole was successful. A high level of clinical suspicion and awareness is necessary for early diagnosis of penicilliosis, especially in an era of an increasing prevalence of HIV in this region.

Near miss diagnosis of childhood tuberculosis.

Tuberculosis (TB) remains a public health problem in Malaysia. We describe three atypical cases of serious tuberculosis in children. The potential diagnostic pitfall in these cases is highlighted by its unusual presentation in a setting of culture-negative infection. A positive polymerase chain reaction (PCR) in each case assists in gauging the diagnosis in concordance with appropriate clinical findings.