Journal of Medical Case Reports最新文献

Background: Occurrence of life-threatening scorpion sting in adults is a rare entity compared with children. Different cases of organ failure following scorpion sting have been reported but complications, such as acute toxic myocarditis, cardiogenic shock, pulmonary edema, acute kidney injury and toxic hepatitis occurring simultaneously in adult patients is exceedingly rare with no prior documented similar report. This case report explores the unique presentation of these complications occurring simultaneously and their management in resource limited setting.

Case presentation: A 31-year-old Eritrean female came to our emergency room with severe respiratory distress, persistent retching, drenching sweating, generalized pain and unrecordable blood pressure 12 hours after scorpion sting. Electrocardiography revealed signs of diffuse acute myocarditis. The diagnosis of cardiogenic shock and pulmonary edema owing to scorpion sting envenomation was made. The patient also developed acute kidney injury and toxic hepatitis. She recovered well after 10 days of hospital stay and further follow-up, with supportive management and scorpion antivenom. To date, over a period of more than 2 years the patient has no new complaint or complication.

Conclusion: This case report highlights the clinical novelty of multiorgan failure following scorpion sting in adults. The unique presentation of acute toxic myocarditis, cardiogenic shock, pulmonary edema, acute kidney injury and toxic hepatitis in a 31-year-old female underscores the possibility of scorpion sting causing such life threatening envenomation after delayed presentation. This case contributes to the understanding of atypical presentations of scorpion sting in adults.

Background: The Barcelona Clinic Liver Cancer staging system classifies hepatocellular carcinoma on the basis of tumor characteristics, liver function, and Eastern Cooperative Oncology Group performance status. Hepatocellular carcinoma is divided into five stages, and the treatment options for intermediate-stage hepatocellular carcinoma have evolved in recent years. Transcatheter arterial chemoembolization remains the standard treatment for intermediate-stage (stage B) hepatocellular carcinoma. However, the concepts of transcatheter-arterial-chemoembolization-unsuitable and transcatheter-arterial-chemoembolization-refractory tumors have emerged. The authors herein describe three Japanese patients with hepatocellular carcinoma who were treated with atezolizumab and bevacizumab followed by transcatheter arterial embolization or transcatheter arterial chemoembolization. Cases 1 and 2 were transcatheter-arterial-chemoembolization-unsuitable, and Case 3 was transcatheter-arterial-chemoembolization-refractory. All patients achieved a complete response, assessed according to the modified Response Evaluation Criteria in Solid Tumors guidelines.

Case presentation: The first patient was a 65-year-old Japanese man with a primary 11 cm hepatocellular carcinoma. He started treatment with atezolizumab and bevacizumab but developed grade 3 liver injury after two courses, leading to the discontinuation of these drugs and subsequent bland transcatheter arterial embolization. The second patient was an 82-year-old Japanese woman with multiple primary hepatocellular carcinomas. After one course of atezolizumab and bevacizumab, the treatment was interrupted because of grade 3 proteinuria. Bland transcatheter arterial embolization was performed after completing one course of atezolizumab and bevacizumab and one course of atezolizumab alone. The third patient was an 83-year-old Japanese man with recurrent multiple hepatocellular carcinomas. Despite 12 courses of atezolizumab and bevacizumab, the tumor in segment 4 of the liver increased in size and showed arterial-phase enhancement. Transcatheter arterial chemoembolization was performed to treat this tumor. All three patients achieved a complete response based on the modified Response Evaluation Criteria in Solid Tumors guidelines.

Conclusion: Atezolizumab and bevacizumab followed by transcatheter arterial embolization may be an effective treatment strategy for patients with intermediate-stage hepatocellular carcinoma that is transcatheter-arterial-chemoembolization-refractory or transcatheter-arterial-chemoembolization-unsuitable.

Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.

Case presentation: A 36-year-old Middle Eastern man presented with multiple pigmented ulcerated lesions on his face, scalp, and trunk, consistent with basal cell carcinomas. A history of a previous jaw cyst excision and characteristic physical examination findings led to the diagnosis of Gorlin-Goltz syndrome. Treatment included surgical excision of high-risk lesions and intralesional 5-fluorouracil injections for superficial lesions. The patient showed positive responses to the treatment, with most lesions healing completely and others showing ongoing improvement. Minimal side effects were observed, highlighting the potential efficacy of this novel approach in managing basal cell carcinomas associated with Gorlin-Goltz syndrome.

Conclusion: Gorlin syndrome is a rare genetic disorder characterized by various clinical manifestations, with basal cell carcinomas being a prominent feature. Diagnosis is based on specific major and minor criteria, and a multidisciplinary approach is crucial for effective management. Basal cell carcinomas in Gorlin syndrome tend to occur more commonly in sun-exposed areas, necessitating sun protection. Treatment options include surgical excision, cryotherapy, photodynamic therapy, and topical chemotherapeutics, based on lesions characteristics. This case report describes a novel approach to treating multiple basal cell carcinomas associated with basal cell nevus syndrome using intralesional 5-fluorouracil injections. The observed side effects were minimal, demonstrating the potential efficacy of this treatment modality.

Background: Management of the extensive soft tissue injuries remains a significant challenge in orthopedic and plastic reconstructive surgery. Since the thumb is responsible for 40% of the functions of the hand, saving and reconstructing a mangled thumb is essential for the patient's future.

Case presentation: This case report describes the management of a severe occupational thumb injury in a 25-year-old white Persian male who sustained an occupational injury to his left thumb, resulting in extensive burn, crush injury to the distal and proximal phalanx, and severe soft tissue damage to the first metacarpal, thenar, and palmar areas. Necrosis necessitated amputation through the first metacarpophalangeal joint. Postdebridement observation revealed a viable first metacarpal bone but was exposed due to a lack of soft tissue. Given the wound contamination and infection risk, the first metacarpal bone was banked in the distal forearm. After a 4 week period of antibiotics, irrigation, debridement, and vacuum dressing, the thumb and soft tissue reconstruction were performed, retrieving the viable first metacarpal. The first metacarpophalangeal joint fusion was achieved with an intramedullary screw and two K-wires. A reverse adipofascial radial artery forearm flap and skin grafts from the left thigh were used for soft tissue reconstruction.

Conclusion: This case highlights the importance of a flexible, staged approach to hand trauma, emphasizing the utility of ectopic banking and reconstructive techniques in managing complex hand injuries. This report contributes to the ongoing dialogue on optimal strategies for hand reconstruction, particularly in cases where traditional immediate reconstruction is not feasible.

Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management. Despite this, there is limited literature on effective obesity management strategies in congenital adrenal hyperplasia patients, emphasizing the need for comprehensive care approaches.

Case presentation: We present the case of an 18-year-old Hispanic male with classic congenital adrenal hyperplasia and class III obesity, who underwent a multimodal obesity treatment plan. Diagnosed shortly after birth, he experienced rapid weight gain starting at the age of 2 years, with his body mass index escalating to 52.5 kg/m² by age 15. Initial interventions included lifestyle modifications and pharmacotherapy with metformin and topiramate, which were ineffective alone. Subsequently, he was treated with semaglutide, achieving an 11% body mass index reduction. Owing to ongoing metabolic dysregulation, he underwent laparoscopic sleeve gastrectomy at the age of 17 years. The surgery was well tolerated, with careful intraoperative glucocorticoid management. Post-surgery, he experienced significant improvements in body mass index, hunger, and satiety, along with a reduction in emotional overeating.

Conclusions: This case highlights the potential of an integrative, multidisciplinary approach to address severe obesity and its associated comorbidities in patients with classic congenital adrenal hyperplasia. The successful outcomes from both pharmacotherapy and bariatric surgery suggest that tailored obesity management strategies can optimize health in this unique population, reinforcing the need for further research into comprehensive obesity care in individuals with congenital adrenal hyperplasia.

Introduction: Sarcoidosis is a multisystem inflammatory disease of unknown etiology characterized by the formation of noncaseating epithelioid granulomas. Clinically significant renal involvement is rare in sarcoidosis. It most commonly manifests as chronic tubulointerstitial nephritis and nephrocalcinosis with nephrolithiasis. Further, glomerular involvement is observed sporadically, mainly membranous glomerulopathy or focal segmental glomerulosclerosis.

Case presentation: We describe the clinical case of a 49-year-old patient of Caucasian ethnicity with a history of sarcoidosis of the lungs and intrathoracic lymph nodes who was hospitalized for acute kidney injury, hypercalcemia, hypoxemic respiratory insufficiency, general weakness, weight loss, and fever. Conservative treatment was not successful, and therefore early initiation of renal function replacement in the form of intermittent hemodialysis was necessary. During differential diagnosis process, we found nephrotic range proteinuria with microscopic hematuria; autoantibody panel was completely negative. Histologically, a unique constellation of renal lesions in the form of severe chronic tubulointerstitial nephritis combined with diffuse sclerosing crescentic glomerulonephritis was confirmed. Computed tomography scan of the lungs revealed recurrence of sarcoidosis, and a secondary finding was subpleurally localized primary calcified tuberculous infection. Treatment with corticosteroids was initiated in collaboration with a pulmonologist, with rapid improvement in the patient's extrarenal clinical condition.

Conclusion: Sarcoidosis needs to be considered in the differential diagnosis of rapidly progressive glomerulonephritis even though it is a very rare type of renal involvement.

Background: Autoimmune hepatitis is a chronic liver disease marked by immune-mediated inflammation, necrosis, and the potential to progress to cirrhosis if not treated. This case report presents a rare and atypical presentation of autoimmune hepatitis in a Nigerian adolescent girl, highlighting diagnostic challenges in resource-limited settings. The case is unique owing to the absence of jaundice, a common symptom of liver dysfunction, and features such as delayed menarche and bilateral leg swelling. Case presentation The patient was a 16-year-old Black female patient of Igbo ethnicity from Nigeria, who presented with a 6-month history of bilateral leg swelling and delayed menarche. She had no history of jaundice and abdominal pain, and she had no significant past medical history. She was initially misdiagnosed, delaying appropriate management. Following a comprehensive diagnostic workup, including liver function tests, imaging, and autoantibody testing, which were positive for antinuclear and antismooth muscle antibodies, she was correctly diagnosed with type 1 autoimmune hepatitis. Treatment was initiated with corticosteroids (prednisolone) and azathioprine, which resulted in clinical improvement. However, her serum albumin levels remained low as a result of the preexisting cirrhosis.

Conclusions: This case highlights the diagnostic challenges of autoimmune hepatitis in adolescents, particularly in regions where infectious liver diseases are more commonly suspected. It emphasizes the need for increased awareness and better diagnostic resources to improve early detection and management of autoimmune hepatitis in sub-Saharan Africa. Early intervention with immunosuppressive therapy is essential, even in the absence of classic liver-related symptoms, to prevent progression to advanced liver disease.

Background: Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. "Porto-sinusoidal vascular disease" has been recently proposed, according to new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication. A TERT c.2286 + 1G/A mutation in a splicing consensus site was identified in a patient with pulmonary fibrosis. Recently, a pathogenic de novo TERT c.280A > T variant was associated with diffuse lung disease in an infant.

Case presentation: A 16-year-old Han male patient experienced unexplained black stool for 7 days, accompanied by dizziness and fatigue. On examination, there were mesh pigmentations on the exposed areas of the skin on both hands and feet. Laboratory testing revealed moderate hemorrhagic anemia and mild elevation of alanine aminotransferase. A computed tomography scan showed portal hypertension, esophageal and gastric varices, and splenomegaly. The liver stiffness measurement by FibroScan was 6.0 kPa. Liver biopsy revealed typical features of porto-sinusoidal vascular disease. Whole exome sequencing identified a heterozygous TERT c.2286 + 1G > A de novo mutation and quantitative polymerase chain reaction revealed very short telomeres (less than the first percentile for his age). The patient was diagnosed as TERT de novo mutation-related dyskeratosis congenita and porto-sinusoidal vascular disease. He underwent esophageal and gastric variceal ligation treatment and received a carvedilol tablet (12.5 mg) every morning. After 6 months, he has moderate iron deficiency anemia and has started receiving polysaccharide iron complex therapy.

Conclusion: When discovering reticular rash and unknown portal hypertension, it is necessary to perform whole exome sequencing and chromosome length testing to clarify the possibility of dyskeratosis congenita/telomere biology disorder with porto-sinusoidal vascular disease.

Background: Nephrogenic diabetes insipidus is a rare, often underrecognized complication of long-term lithium therapy. Lithium-induced nephrogenic diabetes insipidus results from chronic renal exposure, leading to significant polyuria, dehydration, and hypernatremia.

Case presentation: We describe a case of a 55-year-old White caucasian male with a schizoaffective disorder managed with lithium who presented with altered mental status and electrolyte abnormalities following a recent stroke. Evaluation revealed nephrogenic diabetes insipidus as the primary etiology, likely exacerbated by recent changes in medication adherence. The patient responded well to fluid resuscitation, reduced lithium dosage, and targeted electrolyte management.

Conclusion: This case underscores the need for vigilance in monitoring patients with nephrogenic diabetes insipidus on chronic lithium therapy, as early recognition and treatment are essential in preventing renal impairment and improving clinical outcomes.

Background: Nocardia infections are rare infections in immunocompetent patients and occur mostly in immunocompromised individuals. Usually, nocardia affects skin, brain, and lungs, but in disseminated forms, which occurred mostly in immunocompromised patients, it can involve every organ. Nocardia sinusitis is extremely rare as our searches returned only a very few related studies.

Case presentation: In this case report, we present, for the first time, a 55-year-old Iranian male patient diagnosed with chronic lymphocytic leukemia who was receiving chemotherapeutic drugs and developed a fever. Further laboratory tests and imaging revealed pansinusitis. Following rhinoendoscopy, the sinus mucosal biopsy pathology report showed sever inflammation accompanied by aggregation of filamentous thin-walled bacteria. The patient was treated with co-trimoxazole and meropenem. Following good clinical improvement the patient was discharged and advised to continue oral co-trimoxazole for 3 months.

Conclusion: This case highlights that patients with febrile neutropenia should be assessed for rare infectious disease etiologies, especially those with chronic lymphocytic leukemia, as they have humeral immunodeficiency, and in the later stages of the disease, cellular immunodeficiency may also be involved. Therefore, a multisystem evaluation of patients with febrile neutropenia is necessary, particulary when no obvious source is identified in initial surveys, to uncover rare etiologies.