Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, and a high risk of hematologic malignancies; however, atypical forms lacking telangiectasias may remain unrecognized for years. This case is unique in that AT initially presented as an isolated early-onset cerebellar ataxia without telangiectasias and was only diagnosed after the development of an aggressive lymphoma, highlighting a major diagnostic pitfall. We report an 8-year-old boy followed since infancy for unexplained progressive cerebellar ataxia, with early brain MRI showing posterior fossa atrophy. He was later hospitalized for prolonged fever, and investigations revealed disseminated diffuse large B-cell lymphoma associated with combined immunodeficiency and markedly elevated alpha-fetoprotein, leading to the diagnosis of atypical ataxia-telangiectasia. Management included immunoglobulin replacement therapy, anti-infective prophylaxis, and dose-reduced chemotherapy adapted to AT-related radiosensitivity; radiotherapy and anti-CD20 therapy were not used. Despite an initial partial response, the disease rapidly progressed, resulting in a fatal outcome. This case underscores the importance of systematically considering AT in any child with unexplained early-onset cerebellar ataxia, even in the absence of telangiectasias, as early genetic diagnosis may allow tailored surveillance and timely detection of life-threatening hematologic complications.
Portal vein aneurysms (PVA) are rare vascular anomalies, often associated with liver cirrhosis or portal hypertension. We report the case of a 40-year-old woman admitted for upper gastrointestinal bleeding due to ruptured esophageal varices. Imaging revealed a saccular intrahepatic portal vein aneurysm measuring 23 x 22 mm with a 16 mm neck, partially thrombosed and extending to the superior mesenteric vein. The final diagnosis was intrahepatic portal vein aneurysm complicating severe portal hypertension secondary to chronic hepatitis B. Conservative management was adopted. This case illustrates the value of Doppler ultrasound and CT in detecting intrahepatic PVA and highlights the association between acquired aneurysms and severe portal hypertension.
Pasteurella multocida is a common pathogen following cat bites; however, severe hand infections leading to amputation remain rare. We report the case of a 54-year-old woman who presented 10 days after a cat bite with pain, swelling, and purulent discharge of the right hand. Despite initial appropriate antibiotic therapy and surgical management, the infection progressed to extensive soft tissue necrosis, ultimately requiring amputation of the distal fifth metacarpal. Clinical improvement was observed after adjustment of the antibiotic regimen. This case underscores the potentially aggressive course of P. multocida hand infections and highlights the critical importance of early recognition and prompt management of cat bites to prevent severe complications, including tissue necrosis and amputation.
Percutaneous nephrolithotomy (PCNL) is the gold-standard treatment for large (>2 cm) and complex renal stones due to its high efficacy and minimally invasive nature. However, its use in low- and middle-income countries is often constrained by limited infrastructure, lack of specialised equipment, and a shortage of trained personnel. In Ghana, data on PCNL outcomes, especially from regional hospitals, remain scarce. This study aimed to evaluate the demographic characteristics, operative details, and clinical outcomes of patients undergoing PCNL at a regional referral hospital in northern Ghana. A retrospective case series was conducted at the Upper East Regional Hospital, reviewing all PCNL procedures performed between January and December 2025. Data collected included patient demographics, clinical presentation, imaging modalities, stone characteristics, operative techniques, perioperative outcomes, and complications. Descriptive analysis was performed using Microsoft Excel. Five patients (three males, two females) with a mean age of 43 years (SD 9.35) were included. All presented with flank pain. Most stones were located in the renal pelvis (60%), with a mean size of 2.1 cm. All procedures were performed in the prone position using a 30 Fr tract and pneumatic lithotripsy. The mean operative time was 144 minutes, and the average blood loss was 80 mL. Complete stone clearance was achieved in all cases. The mean nephrostomy tube duration was 2.6 days, and the average hospital stay was 3.6 days. Only one patient developed a minor postoperative fever (Clavien-Dindo grade I). In conclusion, PCNL is a safe and effective treatment option in resource-limited regional hospitals, demonstrating excellent outcomes and minimal complications.
Rheumatic heart disease (RHD) remains a major cause of heart failure and premature death in low-income countries, despite its near disappearance in industrialized countries. More than 55 million people are still affected worldwide, with approximately 360,000 deaths annually. In Africa, surveys show high prevalence, as in Brazzaville where it reached 3.5‰ among schoolchildren, probably reflecting the situation in the Democratic Republic of Congo, where no national screening exists. The 2023 echocardiographic criteria of the World Heart Federation offer prospects for early diagnosis, but their implementation faces structural obstacles. RHD remains a marker of poverty and an urgent call for social justice.
Psychotic disorders represent a major public health concern worldwide. In low- and middle-income countries, pathways to mental health care are often complex and strongly influenced by sociocultural beliefs, leading to delayed access to psychiatric services. In Madagascar, limited data are available regarding the care pathways of patients with psychotic disorders. The objective of the study is to analyse the pathways to care of patients with psychotic disorders and to identify factors influencing the choice of first help-seeking source. A multicenter cross-sectional analytical study was conducted from July 2020 to April 2021 in one university neuropsychiatric hospital and three faith-based healing centers (Toby Fifohezana) affiliated with the Church of Jesus Christ in Madagascar (FJKM) and the Malagasy Lutheran Church (FLM) in Northwestern Madagascar. Patients presenting psychotic symptoms and their accompanying decision-makers were included. Sociodemographic, clinical, and pathway-related data were collected using a structured questionnaire. Data were analysed using SPSS version 25. Chi-square tests were applied, with p < 0.05 considered statistically significant. A total of 108 patients were included. The mean age was 29.9 ± 9.7 years, and 72.8% were male. First help-seeking was mainly from traditional healers (56.5%) and religious practices (22.2%), whereas only 12.0% consulted psychiatric services and 9.3% consulted general practitioners as a first resort. Higher educational level of decision-makers was significantly associated with initial use of medical services (p < 0.001). Belief in supernatural causation, rural residence, and employment in the primary sector were significantly associated with first consultation with traditional or religious healers. Pathways to care for psychotic disorders in Northwestern Madagascar are predominantly non-medical at onset, leading to delays in appropriate psychiatric treatment. Strengthening mental health literacy, improving accessibility of psychiatric services, and promoting collaboration between traditional, religious, and medical sectors are essential to optimize early care.
Ossifying fibroma is a rare benign fibro-osseous lesion of the craniofacial skeleton, and large maxillary presentations remain uncommon and diagnostically challenging. A case of maxillary ossifying fibroma is presented in a patient with a painless progressive upper jaw swelling associated with left-sided facial asymmetry involving the perioral region and lips, accompanied by effacement of the left nasolabial fold, while cervical lymph nodes and facial sensation were preserved. Radiological evaluation revealed a well-circumscribed maxillary lesion with mixed radiolucent-radiopaque features. The diagnosis of ossifying fibroma was confirmed histopathologically following complete surgical excision, resulting in a favorable outcome with no evidence of recurrence during follow-up. This case adds to the existing literature by illustrating the variable clinical presentation of maxillary ossifying fibroma and underscores the importance of early recognition, accurate clinico-radiological correlation, and appropriate surgical management to prevent functional and esthetic complications.
Duplicated collecting systems with adrenal gland ureteric insertion are extremely rare and present significant diagnostic and surgical challenges. This report describes two paediatric cases from a tertiary hospital in Ghana. The first involved a 3-year-old with progressive abdominal distension initially thought to have pelvic-ureteric junction obstruction; surgery instead revealed a duplicated left kidney with the upper moiety ureter inserting into the adrenal gland and lower moiety obstruction. The second case, a 5-year-old boy, presented with abdominal distension, intermittent flank pain and an undescended testis. Imaging showed severe hydronephrosis, and intraoperatively, the upper moiety ureter inserted into the adrenal gland, while the lower moiety drained into the bladder with reflux. Both children required nephrectomy, with uneventful recovery. These cases show that such anomalies may present with nonspecific symptoms, and imaging may miss ectopic insertion. The absence of antenatal detection highlights the need for routine prenatal ultrasonography for early diagnosis.
Renal cell carcinoma (RCC) accounts for approximately 2-3% of adult malignancies, with the clear cell subtype being the most common histological variant. Renal cell carcinoma frequently spreads hematogenously, while direct contiguous invasion into adjacent organs, such as the colon, is uncommon and sparsely reported. We report the case of a 49-year-old woman who presented with recurrent left flank pain of one-year duration associated with weight loss and anorexia. Imaging revealed a large heterogeneous left renal mass invading Gerota´s fascia and the distal transverse colon. She underwent successful single-stage en-bloc radical nephrectomy with transverse colectomy and primary colocolic anastomosis. Postoperative recovery was uneventful, and the patient was discharged on postoperative day five. Histopathology confirmed clear cell renal cell carcinoma with direct colonic invasion and positive lymph nodes (pT4N1), ISUP grade 4, with sarcomatoid and rhabdoid differentiation. This case demonstrates that en-bloc multivisceral resection is feasible and safe in selected patients, even in resource-constrained settings with multidisciplinary collaboration.
Les violences physiques envers les personnes âgées constituent un problème majeur de santé publique et de droits humains, particulièrement sous-documenté en Afrique subsaharienne. En Guinée, les données médico-légales restent rares, limitant l'élaboration de stratégies de prévention et de protection adaptées. Il s'agissait d'une étude prospective descriptive menée du 11 novembre 2024 au 13 juin 2025 à l'Unité de Médecine Légale de l'Hôpital Régional de Conakry. Ont été incluses toutes les personnes âgées de 60 ans et plus, munies d'une réquisition judiciaire et examinées pour suspicion de violence physique. Les données sociodémographiques, contextuelles et médico-légales ont été recueillies à l'aide d'une fiche standardisée. L'analyse était descriptive. Les personnes âgées représentaient 5,8% des consultations médico-légales (61 cas). Les femmes étaient majoritaires (62,3%). L'âge moyen était de 71,3 ± 7,2 ans. Les violences survenaient principalement au domicile (85,2%) et étaient majoritairement intrafamiliales. Les lésions touchaient surtout la tête et le visage (45,9%). Une incapacité temporaire totale supérieure à 21 jours était observée dans 23% des cas. Les violences physiques faites aux personnes âgées à Conakry constituent une problématique préoccupante, probablement sous-estimée. Les unités de médecine légale jouent un rôle central dans leur détection et leur documentation, soulignant la nécessité de renforcer les mécanismes de prévention, de protection sociale et de réponse judiciaire.
Oncocytic adrenal tumors are a rare entity among adrenal neoplasms. Common in women, they are characterized by a proliferation of large cells with eosinophilic and granular cytoplasm. They are found in various organs such as the salivary glands, kidneys, parathyroid glands, and, very rarely, the adrenal glands. Often presenting with subtle and misleading clinical symptoms, they are frequently characterized by vague abdominal pain or lower back pain with a deterioration in general health. We report the case of a 65-year-old female patient who presented with the sudden onset of left-sided low back pain, which had been paroxysmal in nature and accompanied by headaches, palpitations, and profuse sweating for several years. The interest of this case report is to highlight this rare entity and raise interest in the importance of a multidisciplinary approach combining imaging, endocrine evaluation, and histopathological analysis to assess the diagnosis.
A 50-year-old post-menopausal female presented to the Dermatology Outpatient Clinic with a three-year history of intensely pruritic, erythematous, and scaly plaques symmetrically involving the left ankle joint and right foot. The lesions were associated with severe nocturnal pruritus, leading to scratching, excoriation, and occasional bleeding. The condition worsened during cold weather, after consumption of spicy or acidic foods, and during emotional stress. She had a history of prior treatment with topical corticosteroids, which provided only temporary relief with recurrence within one month of discontinuation. On examination, multiple well-defined erythematous plaques with scaling, crusting, and excoriation were noted, along with areas of post-inflammatory hyperpigmentation. Based on the clinical presentation and severity, the case was graded as EASI Grade III (severe). A final diagnosis of chronic eczema (atopic dermatitis) was established. Severe eczema requires an individualized management approach focusing on skin barrier restoration and inflammation control. In the present case, the patient was managed with a combination of systemic and topical therapy. She was prescribed a super-bioavailable formulation of itraconazole 130 mg once daily for two weeks, along with cetirizine 10 mg at bedtime for symptomatic relief of pruritus, while a gastro-resistant pantoprazole tablet was co-administered once daily during the treatment period for gastric protection. Topically, Topisal-MF 3% ointment was applied twice daily to reduce inflammation and scaling, and Emax ointment twice daily to restore skin hydration and barrier function. The patient was advised to avoid triggering factors and maintain proper skin care. On follow-up after two weeks, significant improvement in itching, erythema and scaling was observed.
We are describing the ultrasound-guided trans-axillary approach to the infraclavicular block (UG-ATAXIC) as an innovative approach, through the anteromedial walls of the axillary region, to provide motor and sensory blocks for postoperative analgesia in surgical procedures involving the mid-humerus, elbow, the forearm, and hand. This approach is another variant and potential alternative to the existing and described approaches to the infraclavicular brachial plexus block.
Budd-Chiari syndrome represents a rare vascular disorder defined by obstruction of hepatic venous outflow which, without timely intervention, may progress to portal hypertension, cirrhosis, and liver failure. Primary Budd-Chiari syndrome refers to intrinsic venous obstruction, which is most commonly associated with underlying prothrombotic states that predispose individuals to venous thrombosis. Interventional procedures are often required as a therapeutic modality when medical therapy alone is insufficient. Transjugular intrahepatic portosystemic shunt (TIPS) is commonly used to reduce portal hypertension in Budd-Chiari syndrome; however, it may not be feasible in the presence of hepatic vein thrombosis where cannulation of the hepatic vein, and thus, shunt creation may not be possible. In such cases, direct intrahepatic portosystemic shunt (DIPS) may provide an alternative route for portal decompression through the creation of a shunt directly between the inferior vena cava and the portal venous system. We describe a 34-year-old female presenting with autoimmune hepatitis and primary Budd-Chiari syndrome who underwent a successful ultrasound-guided direct intrahepatic portocaval shunt creation between the portal vein and the intrahepatic inferior vena cava, resulting in a significant reduction in portal venous pressure gradient and improved portal venous flow. This case highlights the feasibility of DIPS in a tertiary hospital setting and supports its role as an alternative endovascular approach for managing portal hypertension in Budd-Chiari syndrome.
A 49-year-old female patient presented with the complaint of swelling over the left lower jaw that initially occurred 30 years ago. She had an infra-articular mass in her left parotid and was advised to undergo surgery. An arteriovenous malformation is a rare high-flow vascular abnormality characterised by direct connections between arteries and veins that lack an intervening capillary bed. The condition is gradually progressive, with pulsatile masses, and poses severe diagnostic difficulties due to its complex vascular structure. Clinically, swelling in the area was soft, pulsatile, and partially compressible. MRI Scan revealed that there is a large altered signal intensity lesion showing a tangle of serpiginous vessels on post contrast study noted in the intramuscular plane in the left parotid region of approximate size 5.2 x 9.2 x 7.4 cm seen extending superiorly up to the external auditory channel, inferiorly in upper neck region and laterally causing outward bulge on skin, medially reaching upto Buccal mucosa. The lesion has arterial feeders from branches of the left external carotid artery and early venous drainage into tributaries of the left EJV; a few vessels also drain into IJV. The Left subclavian vein is dilated and tortuous. Management and Therapeutic intervention include surgical removal of part; further short-term management will be planned based on the patient´s condition and standard surgical protocol. The receptor profile will guide medium-term management, including the surgical site dressing. Long-term management will be routine follow-ups.
Acrodermatitis enteropathica is a rare zinc deficiency disorder presenting in infancy with characteristic acral and periorificial dermatitis. A two-month-old infant was brought to the outpatient department with scrotal discoloration and perineal erythema of recent onset. There was no history of diarrhea or systemic illness. On examination, the lesion appeared as an edematous, erythematous discoloration involving the scrotum and adjacent perineal region, an atypical early presentation that may mimic common dermatological conditions. Laboratory evaluation revealed low serum zinc levels (48 μg/dL). Based on clinical findings and biochemical evidence, a provisional diagnosis of acrodermatitis enteropathica was made. Differential diagnoses considered included atopic dermatitis, seborrheic dermatitis, and biotinidase deficiency. The infant was treated with oral zinc supplementation (1-3 mg/kg/day of elemental zinc), resulting in rapid clinical improvement. After one month, serum zinc levels increased to 70 μg/dL, with resolution of skin lesions. The favorable response confirmed the diagnosis. This case emphasizes that isolated genital involvement can be an early manifestation of zinc deficiency, and timely recognition is essential to prevent progression and systemic complications.
Salmonella (S) typhi, the causative agent of typhoid fever, can lead to various complications, one of which is the formation of liver abscesses. We present an unusual case of liver abscess complicating S. typhi cholecystitis in a 77-year-old patient without medical history. He did not present any digestive symptoms. A good clinical and radiological response was seen with both chirurgical drainage and antibiotic treatment. S. typhi liver abscess is a serious complication of typhoid fever that requires prompt recognition and management.
