ABSTRACT
Obturator hernia is an infrequent clinical entity of abdominal wall hernia, accounting for an incidence rate ranging from 0.073 to 2.2% of all hernias and being responsible for 0.2-1.6% of all cases of mechanical intestinal obstruction. The computed tomography (CT) scan, as an imaging modality, is critical in improving the diagnostic rate of obturator hernia. Case presentation: The authors herein report an 87-year-old thin male patient with a known history of chronic obstructive pulmonary disease who presenting with complaints of abdominal pain for 3 days and constipation for 2 days, as well as one episode of vomiting without any features of peritoneal irritation, which was diagnosed early as a right-sided obturator hernia via CT and managed with exploratory laparotomy with hernia reduction and polypropylene mesh repair. Discussion: Obturator hernia is a rare surgical phenomenon with a varied clinical spectrum, ranging from asymptomatic to presenting as intestinal obstruction. The CT scan plays a critical role in the detection of obturator hernias, which ameliorates the possible significant postoperative morbidity and mortality. Conclusion: This report demonstrates that a high index of suspicion combined with CT imaging aids in early diagnosis and management, thus overcoming the reluctant morbidity.
ABSTRACT
Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with wide variation of genetics associated with it. Among the different genes described, mutation in TFG is a rare finding in amyotrophic lateral sclerosis. Case presentation: A 35 years old right-handed male presenting with ipsilateral weakness was diagnosed with amyotrophic lateral sclerosis. He was found to have missense variant of TFG with uncertain significance on exome sequencing. Clinical discussion: The genetics involved in amyotrophic lateral sclerosis is ever-evolving. The identification of new TFG variant in this disease adds another evidence to the role of TFG in neurodegenerative disease. Conclusions: The finding of TFG variant of uncertain significance is a rare finding in amyotrophic lateral sclerosis. And with the identification of new TFG variant, it leads to further understanding of spectrum of TFG and its pathophysiology in amyotrophic lateral sclerosis.