The Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency condition characterized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott-Aldrich Syndrome protein (WASP) gene. We investigated two Malay boys who presented with congenital thrombocytopenia, eczema and recurrent infections. Here we report two cases of WASP mutation in Malaysia from two unrelated families. One had a novel missense mutation in exon 1 while the other had a nonsense mutation in exon 2. Both patients succumbed to diseaserelated complications. A differential diagnosis of WAS should be considered in any male child who present with early onset thrombocytopenia, especially when this is associated with eczema and recurrent infections.

Introduction: Awareness for paediatric palliative care has resulted in the impetus for paediatrician-led palliative care services across Malaysia. However, there is paucity of local data on patients receiving hospital-based paediatric palliative care. We aim to review the clinical spectrum of patients referred to these services. Methods: An observational study of children aged between 0-18 years receiving palliative care at 13 hospitals between 1st January and 31st December 2014 was carried out. Results: There were 315 patients analysed, 90 (28.6%) and 46 (14.6%) were neonates and adolescents respectively. The main ICD-10 diagnostic categories for all patients were identified to be ‘Congenital malformations, deformations and chromosomal abnormalities’ 117 (37.1%), ‘Diseases of nervous system’ 76 (24.1%) and ‘Neoplasms’ 60 (19.0%). At referral 156 (50%) patients had holistic needs assessments. Patients with ‘Diseases of nervous system’ were assessed to have significantly more physical needs than the other two diagnostic categories. Majority of patients who knew of their diagnosis and prognosis were those with malignancy. Over a fifth of referrals were at their terminal admission. Of 144 who died, 111 (77.1%) had advanced care plans. There was bereavement follow-up in 98 (68.1%) patients. Conclusion: Patients referred for palliative care have varied diagnoses and needs. To ensure all paediatricians are competent to deliver quality care to all children, further education and training initiatives is imperative.
Palliative Care

Background & Objective: Varicella is a common infection during childhood and generally self-limiting. However, it can rarely cause neurological complications. Isolated acute peripheral facial palsy (APFP) is extremely rare during primary varicella infection with estimated incidence of <0.01%. There have also been conflicting opinions on its natural history, prognosis and management worldwide. We aimed to establish the natural history, prognosis and treatment for varicella-related isolated APFP in immunocompetent individuals, without co-morbids. Methods: Systematic review was performed with systematic literature search in Google Scholar and PubMed. Data was analysed with statistical analysis software. Results: Thirty cases were included. The complete remission rate of APFP was 66.67% for nontreatment group and 72.22% for treatment group (p=0.643). Early and late treatment group had a similar complete remission rate of 88.89% and 80% respectively (p=1.000). However, early treatment group (within 3 days of onset) had achieved complete remission 3 weeks earlier than the late treatment group (p=0.091). Antiviral group tends to have better outcome than steroid monotherapy group, although statistically insignificant (p=0.055). Conclusions: This condition generally has good prognosis even without treatment. However, early treatment and antiviral therapy may at least accelerate remission and reduce morbidities although these cannot alter the final outcome. Clinicians may consider antiviral therapy if patients present within 3 days of onset. These findings need to be applied with caution, considering the limitations of our review.