Familial adenomatous polyposis: a case report.

BACKGROUND: Familial adenomatous polyposis is characterized by the presence of multiple colorectal adenomatous polyps and caused by germline mutations in the tumor suppressor gene and adenomatous polyposis coli, located on chromosome 5q21-q22. Familial adenomatous polyposis occurs in approximately 1/10,000 to 1/30,000 live births, and accounts for less than 1% of all colorectal cancers in the USA. It affects both sexes equally and has a worldwide distribution. The incidence of colon cancer in low- and middle-income countries is rising. In addition to the increasing incidence, lack of early detection and impeded access to optimal multidisciplinary treatment may worsen survival outcomes. Developing quality diagnostic services in the proper health context is crucial for early diagnosis and successful therapy of patients with colorectal cancer, and applying a resource-sensitive approach to prioritize essential treatments on the basis of effectiveness and cost-effectiveness is key to overcoming barriers in low- and middle-income countries. We report a case of familial adenomatous polyposis presenting as adenocarcinoma with multiple colorectal adenomatous polyps. The diagnosis of familial adenomatous polyposis was made by the presence of numerous colorectal adenomatous polyps and family history of colonic adenocarcinoma. Due to its rarity, we decided to report it. CASE PRESENTATION: A 22-year-old Ethiopian female patient presented to Addis Ababa University College of Health science, Addis Ababa, Ethiopia with rectal bleeding. Abdominopelvic computed tomography scan was done and showed distal rectal asymmetric anterior wall thickening in keeping with rectal tumor. Colonoscopy was done and she was diagnosed to have familial adenomatous polyposis with severe dysplasia. In the meantime, colonoscopy guided biopsy was taken and the diagnosis of adenocarcinoma with familial adenomatous polyposis was rendered. For this, total proctocolectomy was carried out. On laparotomy there was also incidental finding of left ovarian deposition for which left salpingo-oophorectomy was done, and 4 weeks after surgical resection, the patient was started on oxaliplatin, leucovorin, fluorouracil chemotherapy regimen. CONCLUSION: In the clinical evaluation of a patient with rectal bleeding, familial adenomatous polyposis must be considered as a differential diagnosis in subjects having family history of colonic adenocarcinoma for early diagnostic workup, management, family genetic counseling, and testing.

Thyroid tuberculosis mimicking multinodular goiter: a case report.

BACKGROUND: Mycobacterium tuberculosis is the second most common infectious cause of death in adults worldwide. The ability of this organism to efficiently establish latent infection has enabled it to spread to nearly one-third of individuals worldwide. Approximately 8 million new cases of active tuberculosis disease occur each year, leading to about 1.7 million deaths. The disease incidence is magnified by the concurrent epidemic of human immunodeficiency virus infection. A total of 1.3 million people died from tuberculosis in 2022. In 2022, an estimated 10.6 million people fell ill with tuberculosis worldwide, including 5.8 million men, 3.5 million women, and 1.3 million children. We report a case of thyroid tuberculosis presenting as multinodular goiter. Neck ultrasound was done and revealed abscess collection on the background of multinodular colloid goiter. The diagnosis of thyroid tuberculosis was confirmed by a positive GeneXpert of the pus sample and the presence of extensive caseous necrosis on cytopathology examination. Furthermore, anterior neck swelling may provide a diagnostic challenge by clinically mimicking multinodular goiter or thyroid neoplasms. Owing to its rarity and its tendency to pose a clinical diagnostic challenge, we decided to report it. CASE PRESENTATION: A 60-year-old retired female Ethiopian high-school teacher presented to University of Gondar Hospital, Gondar, Ethiopia with firm, nontender multinodular anterior neck swelling measuring at largest 2 × 3 cm that moves with swallowing. GeneXpert of the pus sample and cytopathology examination confirmed the diagnosis of thyroid tuberculosis, and the patient was started on 2 rifampicin-ethambutol-isoniazid-pyrazinamide/4 rifampicin-isoniazid 3 tablets by mouth/day, which is defined as the preferred first-line anti-tuberculosis regimen in Ethiopia, and pyridoxine 50 mg by mouth per day for 6 months. Since then, she has been followed with regular liver function tests. The patient has shown a smooth course with no significant adverse effects encountered. Currently, the patient has completed her anti-tuberculosis treatment and is doing well. CONCLUSION: In the clinical evaluation of a patient with anterior neck swelling, tuberculosis must be considered as a differential diagnosis in subjects from endemic areas for early diagnostic workup and management.

Schwanoma of the cervical sympathetic chain: A case report.

INTRODUCTION AND IMPORTANCE: Any cranial, peripheral, or autonomic nerve in the body can give rise to a benign, slowly growing encapsulated nerve sheath tumor known as a schwannoma. The majority of parapharyngeal extracranial schwannomas, which typically have vagal origins, are located there. When they first appear, most swannomas are asymptomatic. Vague symptoms may be present in some people. CASE PRESENTATION: She is a 35-year-old Ethiopian female patient presented with left lateral neck swelling of 11 years duration which was initially small but gradually increases to attain the current size. Associated with the swelling she had had dull aching pain in the same area. On examination, there was a 5*4 cm non-tender hard mass over the left cervical area which had an irregular border, fixed to the underlying structure but not to the overlying skin. Investigations were suggestive of cervical schwannoma. Finally, the patient was operated on and discharged improved. CLINICAL DISCUSSION: The majority of schwannomas are solitary, however they can also be multifocal and plexiform when they are associated with neurofibromatosis. Schwannomas are typically asymptomatic until late in the course of the disease, when neurologic symptoms brought on by compression of the adjacent nerve may develop. The most popular diagnostic techniques for schwannomas include computed tomography (CT), MRI, ultrasonography, and fine-needle aspiration cytology (FNAC). CONCLUSION: Cervical sympathetic chain schwannomas are uncommon tumors that typically manifest as asymptomatic unilateral neck masses without Horner's syndrome. For the diagnosis of cervical sympathetic chain schwannoma, imaging tests are crucial.

Pediatric lymphatic leishmaniasis: a case report.

BACKGROUND: There are three main forms of leishmaniases: visceral (the most serious form because it is almost always fatal without treatment), cutaneous (the most common, usually causing skin ulcers), and mucocutaneous (affecting mouth, nose, and throat). Leishmaniasis is caused by protozoan parasites, which are transmitted by the bite of infected female phlebotomine sandflies. The disease affects some of the world's poorest people and is associated with malnutrition, population displacement, poor housing, a weak immune system, and lack of financial resources. An estimated 700,000 to 1 million new cases occur annually. Only a small fraction of those infected by parasites causing leishmaniasis will eventually develop the disease. We report a case of exclusive lymph node involvement in leishmaniasis, presenting as localized lymphadenopathies. The diagnosis of lymphatic leishmaniasis was confirmed by the presence of Leishmania donovani bodies in fine needle aspiration cytology, and positive anti-rK39 antibodies. The bone marrow aspiration was negative for Leishmania donovani bodies. Abdominal ultrasound was done and there was no organomegaly. Furthermore, localized lymphadenopathies may provide a diagnostic challenge by clinically mimicking a lymphoma or other causes of lymphadenopathy. Due to its rarity and its tendency to pose a clinical diagnostic challenge, we decided to report a case of lymphatic leishmaniasis. CASE PRESENTATION: A 12-year-old Amara male patient presented to the University of Gondar comprehensive specialized hospital, Northwestern Ethiopia, with six discrete right lateral cervical lymphadenopathies, the largest measuring 3 × 2 cm2, with no cutaneous lesion. Fine needle aspiration cytology confirmed the diagnosis of leishmaniasis in lymph node, and he was put on sodium stibogluconate (20 mg/kg body weight/day) and paromomycin (15 mg/kg body weight/day) injections, which are given intramuscularly for 17 days. Having completed his medication at the University of Gondar comprehensive specialized hospital, he had a smooth course and was discharged with appointment scheduled for follow-up after 3 months. CONCLUSION: In the clinical evaluation of a patient with isolated lymphadenopathies, leishmaniasis must be considered as a differential diagnosis in immunocompetent subjects in endemic areas for early diagnostic workup and management.

Histopathological pattern of primary bone tumours at the Black Lion Specialized Hospital, Addis Ababa, Ethiopia: a retrospective cross-sectional, 2015-2019.

Introduction: there is few data on epidemiology or clinico-pathology of primary bone tumours in Ethiopia. Bone tumors often have a similar presentation and clinical approach, but they present individual characteristics that are important for treatment and prognosis. This study aimed to provide a brief overview of histopathological pattern of primary bone tumours and the distribution of specific diagnosis by age, sex and anatomic locations. Methods: a retrospective descriptive cross-sectional study was conducted from January 2015 to October 2019 in the Department of Pathology, College of Health Sciences, Addis Ababa University based on surgical biopsy results. Results: there were 335 patients; 158 (47%) had benign tumours and 177 (53%) had malignant tumours. Osteochondroma was the most common benign bone tumour with 32.3% followed by giant cell tumour 16.5%, chondroma 11% and others 40.2%. Osteosarcoma constitutes 62% of all primary malignant bone neoplasms, followed by ewing sarcoma 15.2%, chondrosarcoma 11.3%, and others 11.5%. Most age group affected by primary bone tumours were 10-29 yrs and most common locations of presentation for primary malignant bone tumours were distal femur and proximal tibia. Conclusion: the present study results parallel the findings previously reported in literature and show a similar distribution of primary bone tumors as in the other developed and underdeveloped countries.