Laurence Moon Bardet Biedl syndrome is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, decreased visual acuity, obesity, hypogonadism, and polydactyly. The diagnosis of this syndrome is easily overlooked due to its rarity, with a prevalence rate of one in 125,000-160,000 reported within Europe. Delayed diagnosis and inappropriate management may lead to an irreversible loss of functions. The most significant of these losses include loss of vision, cardiac problems, and renal abnormalities. These dysfunctions critically impact the mental faculties and personal life of a patient. Our case presented with striking features of this syndrome, but due to a lack of awareness, her family was not adequately counseled. Both the family and the patient were not equipped with the necessary knowledge regarding the nature of her disease and its prognosis. The patient was mismanaged and kept ignorant of the importance of a proper follow-up. This necessitates a multidisciplinary team approach towards such cases so that their disease can be adequately managed. The early diagnosis and symptomatic management of complications as they arise remain the most important and vital step in the management of this illness. We hope that our case sheds further light on the existing knowledge of this syndrome.
Introduction Greying of hair is an inevitable phenomenon that occurs commonly as a person ages. It usually occurs in the fourth decade regardless of gender but now a days, even people in their early twenties can experience premature greying. The objective of our study was to determine the frequency of premature greying of hair and its impact on the socio-cultural spheres of life and self-esteem of medical students. Methodology It is a descriptive cross-sectional study conducted at Foundation University Medical College (FUMC) from January to February 2017. All medical students of FUMC who gave their consent were included in the study sample. Students who were absent or unwilling to participate were excluded. Data was collected through a self-administered questionnaire, which was then analysed using SPSS version 17 (SPSS Inc., Chicago, IL). Results Out of 673 students, 210 (31.2%) suffered from premature greying of hair. The prevalence was higher among females (155/73.8%) as compared to males (55/26.2%). There was a statistical difference in perception of both the genders, regarding those with premature greying of hair trying to hide it (p-value = 0.000), premature greying of hair as contagious (p-value = .009) and the affected looking older than their actual age (p-value = 0.036). Conclusion The study showed that premature greying affected the socio-cultural spheres of students’ lives. Females were more prone to developing premature greying of hair. Genetics also play a significant role in the phenomenon. No positive correlation was found by using Rosenberg Self-esteem scale.
Hepatitis E virus (HEV) is among the most common causes of acute viral hepatitis. It typically causes acute infection, but some cases of chronic infection have also been recorded. These cases were particularly seen in developed countries, in patients who were immunocompromised, organ transplant recipients, or those with underlying hematological malignancy. However, we encountered a case of hepatitis E presenting as a chronic liver disease in an immunocompetent patient from a developing country. Therefore, more underlying risk factors need to be studied, which may lead to such a rare presentation of hepatitis E.
Bernard Soulier Syndrome is a genetically inherited platelet disorder that commonly presents with symptoms of impaired blood coagulation, such as epistaxis, menorrhagia, and petechiae formation. Here we present a case of Bernard Soulier Syndrome in which the individual has presented with melena, which is the appearance of black tarry stools due to bleeding from the upper gastrointestinal tract. This presentation is rare and should be discussed so that appearance of the less common symptoms can be caught early, leading to an early diagnosis and consequently earlier and more effective management options.
Systemic sclerosis is an autoimmune condition that frequently affects women. It is a progressive, debilitating disease that has widespread manifestations, targeting different organs of the body with potentially fatal consequences due to lung and kidney involvement. Women with this disease mostly present with Raynaud’s phenomenon along with symptoms of gastro-esophageal reflux disease (GERD). Just like any chronic debilitating condition, patients with systemic sclerosis often suffer from mental health issues that can further worsen their condition, significantly affecting their quality of life. Further research regarding the effects and severity of the disease should be encouraged for a better understanding of the illness, its diagnosis, and treatment. We present a rare case of a 55-year-old woman who presented with complaints of a major depressive episode. She was diagnosed with systemic sclerosis last year and has a history of generalized anxiety disorder. She was prescribed Mirtazapine, an antidepressant. On her follow-up after one month, she started complaining of obsessive ruminations that were causing her significant distress. She was prescribed an add-on therapy with a selective serotonin reuptake inhibitor (SSRI) antidepressant with the emphasis being placed on cognitive behavioral therapy (CBT). She reported an improvement in her obsessive symptoms as well as depression after two months.
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