BACKGROUND: Emergencies such as road traffic accidents (RTAs), acute myocardial infarction (AMI) and cerebrovascular accident (CVA) are the most common causes of death and disability in India. Robust emergency medicine (EM) services and proper education on acute care are necessary. In order to inform curriculum design for training programs, and to improve the quality of EM care in India, a better understanding of patient epidemiology and case burden presenting to the emergency department (ED) is needed.METHODS: This study is a retrospective chart review of cases presenting to the ED at Kerala Institute of Medical Sciences (KIMS), a private hospital in Trivandrum, Kerala, India, from November 1, 2011 to April 21, 2012 and from July 1, 2013 to December 21, 2013. De-identified charts were systematically sampled and reviewed.RESULTS: A total of 1196 ED patient charts were analyzed. Of these patients, 55.35％ (n=662) were male and 44.7％ (n=534) were female. The majority (67.14％,n=803) were adults, while only 3.85％ (n=46) were infants. The most common chief complaints were fever (21.5％, n=257), renal colic (7.3％,n=87), and dyspnea (6.9％,n=82). The most common ED diagnoses were gastrointestinal (15.5％,n=185), pulmonary (12.3％,n=147), tropical (11.1％,n=133), infectious disease and sepsis (9.9％,n=118), and trauma (8.4％,n=101).CONCLUSION: The patient demographics, diagnoses, and distribution of resources identifi ed by this study can help guide and shape Indian EM training programs and faculty development to more accurately refl ect the burden of acute disease in India.

The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management.

The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management.