A Challenging Diagnosis of Huntington's Disease With Mild Clinical Features: Case Report.

Huntington's disease (HD) is an inherited neurodegenerative disease characterized by neuropsychiatric symptoms including chorea, dementia, and depression. It is inherited in an autosomal dominant fashion and exhibits anticipation leading to earlier and more severe symptoms in the affected offspring of a patient. With a much lower prevalence in Asia than in Europe and other parts of the world, its diagnosis can be missed easily in the early stages due to mildness of the symptoms and significant overlap between its symptoms and those of other diseases. We present the case of a 38-year-old male of Pashtun ethnicity presenting with mild cognitive impairment and clumsiness who was eventually diagnosed with HD, but his mild clinical features, no documented history of HD in his parents, and his relatively young age coupled with the relatively low prevalence of HD in his geographical location presented a significant challenge in our diagnosis of his condition. This case underscores the importance of keeping a high clinical suspicion for HD in patients with chorea despite a negative parental history, especially in resource-limited areas where the parents may have gone undiagnosed and highlights the need for further research on HD's prevalence in different parts of the world as well as the barriers to its diagnosis.

Peutz-Jeghers syndrome with polyps in the stomach, duodenum, and small and large intestine: a case report.

BACKGROUND: Peutz-Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding of Peutz-Jeghers syndrome and underscores the significance of interdisciplinary collaboration for accurate diagnosis and tailored therapeutic strategies. CASE DESCRIPTION: We present a case of a 15-year-old Afghan female patient with multiple polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. Despite previous medical visits and colonoscopies, her symptoms persisted. A multidisciplinary team discussed the case and recommended further investigations and interventions. A polypectomy was performed, confirming the presence of hamartomatous polyps. The patient was diagnosed with Peutz-Jeghers syndrome, but during the course of treatment she went through complications and was managed surgically as well. CONCLUSION: Timely polyp removal and lifelong surveillance are crucial in managing Peutz-Jeghers syndrome. Further research and genetic analysis are needed to improve understanding and management of this rare disorder.

Hepatic tuberculosis with lower gastrointestinal symptoms mimicking hepatic metastasis: A rare case report.

INTRODUCTION AND IMPORTANCE: The co-occurrence of Mycobacterium tuberculosis (MTB) affecting both the lungs and abdominal viscera is quite common, but instances of isolated Hepatic tuberculosis (TB) without concurrent clinical signs of TB are exceedingly rare. CASE PRESENTATION: We present a case of a 55-year-old woman who complained of abdominal pain, weight loss, fever and changes in bowel habits. A definitive diagnosis of hepatic TB was made through microscopic examination, revealing necrotizing granulomatous inflammation accompanied by caseous necrosis. The patient received antitubercular therapy without experiencing any noticeable side effects during follow-up. CLINICAL DISCUSSION: Hepatic TB without active pulmonary TB is quite rare case. The patient presents with abdominal pain, fever, weight loss and jaundice. The diagnostic process includes CT (computerize tomography) imaging and subsequent biopsy to confirm it histopathologically. Following the same approach, we did biopsy from the targeted hepatic lesion that showed hepatic tuberculosis. In most cases it is treated with anti-tubercular drugs. However, some complicated cases might need surgical intervention. CONCLUSION: This case report highlights the significance of considering TB into account as a potential cause in patients with lower gastrointestinal symptoms in TB endemic areas by emphasizing the diagnostic challenges posed by hepatic tuberculosis with isolated liver involvement. In order to prevent serious complications of abdominal TB, early diagnosis and timely treatment is crucial.

Acute pancreatitis with chylous ascites mimicking acute appendicitis: A rare case report.

INTRODUCTION AND IMPORTANCE: Chylous ascites, characterized by the accumulation of lymphatic fluid in the peritoneal cavity, presents a significant diagnostic and management challenge, particularly in resource-limited settings. CASE PRESENTATION: We report a case of a 63-year-old female with acute abdominal pain who was initially diagnosed with acute perforated appendicitis. During open surgery, Chylous ascites was found with normal appendix and bulky pancrease with surrounding fluid accumulation. Drain was placed in lesser sac area and appendectomy was performed with drain placed in right iliac fossa. Recovery was uneventful. CLINICAL DISCUSSION: Chylous ascites can be challenging to diagnose, especially in resource-limited settings. Laboratory analysis and imaging studies play a critical role in establishing the diagnosis, while conservative measures and invasive interventions, if necessary, comprise the treatment strategy. CONCLUSION: Our case highlights the importance of considering chylous ascites as a potential differential diagnosis in acute abdomen cases. Accurate diagnosis and management can be particularly challenging in resource-limited settings, and increased awareness among clinicians and further research is necessary to improve outcomes for patients.