Anti N-Methyl-D-Aspartate receptor encephalitis: An under-recognised cause of encephalitis

Anti-N-Methyl-D-Aspartate receptor (NMDAR) encephalitis is an immune mediated condition with characteristic clinical presentation. We report the first case from Borneo, Sabah and the use of electroconvulsive therapy (ECT) in treating recalcitrant psychiatrist symptoms associated with this condition.

A Review of Malaria Research in Malaysia

One hundred and thirteen articles related to Malaria were found in a search through a database dedicated to indexing all original data relevant to medicine published in Malaysia between the years 2000-2013. Thirty eight articles were selected and reviewed on the basis of clinical relevance and future research implications. The epidemiology of malaria has undergone a significant change over the last decade with P. knowlesi, formerly a relatively unknown simian parasite rapidly becoming the most predominant malaria species to infect humans in Malaysia. The epidemiology, clinical features, diagnostic methods and treatment for P. knowlesi infection are described in these studies. In Malaysia, imported malaria from foreigners also poses a challenge. In view of these changes, new strategies on malaria control need to be devised and implemented, and treatment regimens need to be redefined to help Malaysia achieve the goal of malaria elimination by the year 2020.

Mitochondrial neurogastrointestinal encephalomyo pathy (MNGIE) in a Malaysian patient with a novel mutation in thymidine phosphorylase gene: A case report

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare neurodegenerative multisystem disorder inherited in an autosomal recessive manner and characterized clinically by gastrointestinal dysmotility, cachexia, ophthalmoparesis and/or ptosis, peripheral neuropathy and leukoencephalopathy. Heterogenous causative mutations in the thymidine phosphorylase (TP) gene located on chromosome 22q13 have been identifi ed. This is the fi rst reported case of a 25-year-old Malaysian patient, of indigenous Bajau ethnicity who presented with recurrent abdominal pain before developing other clinical features of classical MNGIE. Biochemical correlates include elevated plasma levels of thymidine, deoxyuridine and lactate. The brain MRI showed diffuse leucoencephalopathy while nerve conduction studies were consistent with demyelinating polyneuropathy. Direct DNA sequencing of the nine coding exons of the TP gene showed both a novel and a previously described mutation. The former is a point mutation in exon 5 (NG_011860.1:g.7387C>T) at amino acid position 179, resulting in a stop codon and premature truncation of thymidine phosphorylase(TP) protein while the latter mutation occurred at exon 10 (NG_011860.1:g.9279C>T) resulting in a missense homozygous mutation at amino acid position 471. Defi nite diagnosis was based on clinical features, plasma and urinary nucleosides and the identifi cation of mutations in the TP gene. This case report adds to the knowledge of genotype-phenotype relationship of TP mutations and its occurrence among ethnic groups worldwide.