Journal of Postgraduate Medicine最新文献

Porphyrias are a rare group of inborn errors of metabolism due to defects in the heme biosynthetic pathway. The biochemical hallmark is the overproduction of porphyrin precursors and porphyrin species. Afflicted patients present with a myriad of symptoms causing a diagnostic odyssey. Symptoms often overlap with those of common diseases and may be overlooked unless there is heightened clinical suspicion. We are reporting clinical features and diagnostic challenges in four pediatric patients having variegate porphyria, congenital erythropoietic porphyria, acute intermittent porphyria, and erythropoietic protoporphyria (EPP), who presented with diverse multisystem manifestations. This case series illustrates a logical analysis of symptoms and judicious selection of investigations and the role of genotyping in successfully diagnosing porphyrias.

An 84-year-old man with hypertension and type 2 diabetes presented with recurrent transient loss of consciousness within 2 hours after dinner at home. Physical examination, electrocardiogram, and laboratory studies were unremarkable except hypotension. Blood pressures were measured in different postures and within 2 hours after meal, but neither orthostatic hypotension nor postprandial hypotension was detected. Further, history taking revealed that the patient was tube-fed with a fluid food pump with an inappropriate rapid infusion rate of 1500 mL per minute at home. He was eventually diagnosed as having syncope due to postprandial hypotension, which was caused by the inappropriate way of tube feeding. The family was educated about appropriate way of tube-feeding and the patient did not develop any episode of syncope during a two-year follow-up. This case highlights the importance of careful history taking in the diagnostic evaluation of syncope and the increased risk of syncope due to postprandial hypotension in the elderly.

Extraovarian granulosa cell tumors (GCTs) are rare neoplasms. They arise from the ectopic gonadal tissue along the embryonal route of genital ridge. We present a case of an extraovarian tumor in an elderly female who presented with lump in the abdomen occupying the pelvic region. She was operated and the mass was excised with intact capsule. Histopathology revealed the mass to be an adult granulosa cell tumor. Extraovarian granulosa cell tumors are very rare with only 13 such cases reported in literature to date. The present case is the largest primary retroperitoneal adult granulosa cell tumor reported till date.

Steel syndrome is an autosomal recessive disorder that is caused by mutations in COL27A1 gene. The majority of reported cases have been of Puerto Rican origin, with few reports from India. The present case adds to the repertoire of homozygous recessive disorders from non-consanguineous Indian families. With the present case, a 4-year-old girl, we wish to signify that although mutations in several genes are known to cause skeletal abnormalities, identification of underlying mutations is important as it not only helps with the ascertainment of diagnosis but also aids in determining the role of surgical interventions which is particularly true for Steel syndrome, where the outcome of surgical intervention is usually dismal.

Introduction: Emerging and re-emerging viral diseases are a major threat to public health. Odisha, being one of the coastal states in the country, reports many viral illnesses due to its typical geographical location. This study focuses on the prevalence of different viral diseases in the state of Odisha, India, from 2010-2017.

Material and methods: A total of 43,397 patients with clinical suspicion of viral diseases were screened for different viral etiologies during 2010-2017. The laboratory diagnosis was conducted by serology (ELISA) and RT-PCR for 24 different viruses, i.e., dengue, chikungunya, Japanese encephalitis, hepatitis A virus, hepatitis E virus, hepatitis B virus, hepatitis C virus, rotavirus, herpes simplex virus-1 and herpes simplex virus-2, Epstein-Barr virus, cytomegalovirus, and respiratory viruses. Patients were enrolled from sporadic hospital admissions and outbreaks under different categories as per clinical diagnoses like fever with rash, diarrhoea, encephalitis, jaundice, respiratory illness, and fever of unknown etiology.

Results: The majority of patients belonged to exanthematous group, i.e., fever with rash (32.24%). The number of males was more in all categories except fever with rash, where females (53.34%) were more. Children <16 years of age were found to be the predominant age group for suspected viral diarrhoea (85.26%), encephalitis (76.96%), fever of unknown origin (40.16%), and respiratory infections (27.23%).

Conclusion: Not only vector-borne diseases pose a threat to the Odisha state, but other viral illnesses have also emerged. This detailed report of different viral diseases in the state of Odisha will support public health management.