Journal of Medical Case Reports最新文献

Background: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation.

Case presentation: A 7-year-old Kurdish female patient, with a known case of congenital insensitivity to pain with anhidrosis, presented with a left tibial fracture, complicated by incorrect healing, osteomyelitis, and pseudoarthrosis spanning over a number of years. The osteomyelitis and pseudoarthrosis eventually healed after treatment with a combination of a long course of antibiotics, CERAMENT with gentamicin, and 40 sessions of hyperbaric oxygen treatment at 2.4 bar, 113 minutes with two air breaks. This is the first reported case of using hyperbaric oxygen treatment in children with congenital insensitivity to pain with anhidrosis. We discuss potential mechanistic explanations of the association between healing and hyperbaric oxygen treatment.

Conclusion: Hyperbaric oxygen treatment may be considered in other cases of complicated infections or treatment-resistant pseudoarthrosis in patients with this rare disease.

Background: Crohn's disease and irritable bowel syndrome may both cause abdominal pain and diarrhea. Irritable bowel syndrome not only is an important differential diagnosis for Crohn's disease but also occurs in one out of three patients with Crohn's disease in remission in parallel. If not adequately diagnosed and treated, additional functional symptoms such as fatigue and/or muscle pain may develop, indicating a more severe course.

Case presentation: A 64-year-old Caucasian male with long-standing, widely inactive Crohn's disease presented with persistent diarrhea, bloating, abdominal pain, general fatigue, unexplained hip pain, and frequent shivering with cold extremities, which had worsened following a gastrointestinal infection and psychological stress. A plausible explanation of his symptoms, based on an understanding of mind-body interactions, the autonomic nervous system, and temperature regulation, combined with symptom relief, was associated with rapid and sustainable improvement. After 2.5 years of follow-up, the patient is almost symptom-free.

Conclusions: This case report exemplifies the interrelation between organic (Crohn's disease) and functional diseases (irritable bowel syndrome, chronic fatigue syndrome, and somatoform pain). It further demonstrates that these connections may be overlooked in daily practice and that providing a plausible explanation in combination with symptom relief may be important for patients with functional syndromes.

Introduction: Cardiac tamponade is a life-threatening condition resulting from fluid accumulation in the pericardial sac, leading to decreased cardiac output and shock. Various etiologies can cause cardiac tamponade, including liver cirrhosis, which may be induced by autoimmune hepatitis. Autoimmune hepatitis is a chronic inflammatory liver disease characterized by interface hepatitis, elevated transaminase levels, autoantibodies, and increased immunoglobulin G levels. This case report details a 60-year-old male with autoimmune hepatitis-induced cirrhosis presenting with severe pericardial effusion and cardiac tamponade, emphasizing the interplay between liver and cardiac pathologies.

Methods: A 60-year-old Persian man presented with progressive dyspnea, chest pain, and significant weight gain due to fluid retention. Physical examination revealed pallor, jaundice, elevated jugular venous pressure, muffled heart sounds, and tachycardia. Laboratory tests indicated severe hepatic and renal dysfunction, with elevated liver enzymes, bilirubin, and blood urea nitrogen. Imaging studies, including electrocardiogram, computed tomography angiography, and transthoracic echocardiogram, confirmed large pericardial effusion with signs of cardiac tamponade. Emergency pericardiocentesis was performed, aspirating 500 mL of serosanguinous fluid. Post-procedural management included continuous monitoring, repeat echocardiography, and a comprehensive pharmacological regimen addressing fluid overload, autoimmune hepatitis, and cardiac function.

Conclusion: This case underscores the importance of timely diagnosis and management of cardiac tamponade, particularly in patients with concomitant conditions like autoimmune hepatitis and cirrhosis. Multidisciplinary management involving hepatologists, cardiologists, and critical care specialists is crucial for improving patient outcomes. Early recognition and treatment contribute substantially to the prevention of recurrence and better long-term management of underlying conditions.

Background: The Compress is designed to achieve bone formation and stability by applying pressure at the bone-implant interface, minimizing the likelihood of aseptic loosening, which is a complication of stem implants. Herein, we report two cases of implant failure using the Compress.

Case presentation: Case 1 describes a 36 year-old Japanese man who underwent extraarticular tumor resection, Compress arthroplasty, and reconstruction with a gastrocnemius flap after preoperative chemotherapy for a secondary malignant giant cell tumor in the right distal femur. Postoperatively, partial weight-bearing was started at 6 weeks, and full weight-bearing was allowed at 10 weeks. One year after the surgery, a fall caused implant failure. No bone formation at the implant-bone interface was observed on radiographs immediately prior to the failure. Bone formation was achieved at the interface 1 year after revision arthroplasty, and the patient was able to walk unassisted with a brace. Case 2 describes a 14 year-old Japanese boy who underwent wide surgical resection of osteosarcoma in the left tibia, Compress arthroplasty, and reconstruction with a gastrocnemius flap after preoperative chemotherapy. The postoperative weight-bearing schedule was the same as that of case 1. One year after the surgery, the patient experienced implant failure. A revision arthroplasty was performed. One year after revision surgery, the patient was able to walk unassisted.

Conclusion: Although the risk factors for Compress failure remain unknown, it is important to consider patient characteristics that may inhibit bone formation, implant selection, postoperative loading timing, and radiographs of bone formation at the implant interface when using the Compress.

Introduction: Purulent bacterial pericarditis is a potentially fatal disease with mortality rates reaching 100% if left untreated.

Case presentation: We present the case of a 33-year-old Caucasian male patient who developed cardiac tamponade, most likely caused by a pyogenic liver abscess communicating with the pericardium. Treatment with antibiotics, extended sepsis therapy, and drainage of the abscess led to a full recovery.

Conclusion: This report describes a rare but potentially fatal differential diagnosis of aortic dissection and serves as a reminder that lives abscesses can manifest unexpectedly. Clinical signs and symptoms of tamponade can be mistaken as sepsis. In this particular case, the combination of a septic abscess and tamponade caused by pyopericardium posed a diagnostic challenge.

Background: Intra-aural tick infestations, though uncommon, pose a serious clinical challenge owing to the risk of acute labyrinthitis-an inflammatory condition of the inner ear. This inflammation can lead to severe complications such as sensorineural hearing loss, vertigo, and facial nerve palsy. Prompt recognition and management are crucial to prevent these adverse outcomes.

Case presentation: A 21-year-old female patient of Limbu ethnicity from Dharan presented with sudden-onset right-sided otalgia, accompanied by vertigo, emesis, and auditory impairment. Otoscopic examination revealed a tick lodged in the anteroinferior aspect of the external auditory canal, and audiological assessment indicated profound sensorineural hearing loss on the affected side. Treatment involved careful tick removal using suction and forceps, supplemented by pharmacotherapy including antiinflammatory agents, analgesics, systemic steroids, and prophylactic antibiotics. Her symptoms resolved completely within 4 weeks, with postinterventional audiometry confirming restored auditory acuity.

Conclusion: This case underscores the importance of prompt clinical assessment and treatment in cases of aural tick infestation. The successful use of a multimodal approach highlights the effectiveness of comprehensive management. Further research is warranted to optimize treatment strategies and improve outcomes in similar cases.

Background: McKittrick-Wheelock syndrome is an uncommon and severe disorder caused by large hypersecretory tumors located in the distal colorectal area. Excessive secretion from adenomas is an unusual clinical manifestation that leads to severe electrolyte and fluid depletion, subsequently resulting in kidney injury. Successful treatment relies on quick and cooperative decision-making for timely intervention.

Case presentation: A 79-year-old Bulgarian male patient was admitted to the emergency department with syncope resulting from severe electrolyte depletion and renal failure caused by excessive secretion from a rectal polyp. The initial diagnostic and treatment journey included computed tomography, rectoscopy, biopsy, and an attempt at piecemeal removal, ultimately leading to abdominoperineal resection. Despite the permanent colostomy, the patient experienced a smooth recovery and significant improvement in his quality of life.

Conclusion: McKittrick-Wheelock syndrome begins with nonspecific initial symptoms in the first extended latent phase, mainly diarrhea, followed by a brief deterioration phase and decompensation phase. However, the key to restoring renal function and correcting electrolyte imbalances lies in surgically removing the tumor, making early detection crucial. Employing a multidisciplinary strategy that includes prompt recognition, timely intervention, and thorough preoperative stabilization is crucial for achieving successful outcomes.

Background: Idiopathic intracranial hypertension (IIH) is a condition where the pressure of the cerebrospinal fluid in the brain increases without a known cause. It typically affects adults but can also occur in adolescents and children, although it is less common. Numerous elements, including coagulopathy, have been documented in previous cases as potential etiological factors of IIH. Nonetheless, our objective was to present the insufficiency of a coagulation factor as an additional contributing factor to IIH, a notion that has not been previously reported.

Case presentation: In this case, a 34-year-old West Asian female patient presented with a subacute generalized headache, bilateral blurred vision, and papilledema. The patient's brain magnetic resonance imaging showed flattening of the posterior globe and empty sella, but no other abnormalities were detected. The results of magnetic resonance venography and cerebrospinal fluid analysis were also normal, except for an opening cerebrospinal fluid pressure of 600 mm H₂O during the lumbar puncture. Rheumatologic and endocrine disorders were ruled out on the basis of clinical assessment and laboratory tests. The patient was started on acetazolamide (1 g/day, increased to 2 g/day) and furosemide (20 mg/twice a day) and was encouraged to lose weight. These treatments led to some improvement for about 1 year, but her symptoms then worsened without an obvious cause. Given the prolonged duration of the disease and the lack of expected response to treatment, the patient was reevaluated for endocrinopathy and collagen vascular disease, which were negative. An additional workup revealed an antithrombin III (AT III) deficiency, for which the patient was prescribed acetylsalicylic acid (80 mg/day) in addition to the previous medications. As a result, the patient's papilledema, macular thickness, and nerve fiber layer edema decreased, as observed by fundoscopy and optical coherence tomography. Clinical examination and imaging also showed improvement in the patient's symptoms.

Conclusion: This case highlights the importance of considering coagulopathy in cases of IIH and suggests that antiplatelet therapy with acetylsalicylic acid may be beneficial for such patients.

Background: Adenoid cystic carcinoma of the breast is a rare subtype, constituting less than 3.5% of primary breast carcinomas. Despite being categorized as a type of triple-negative breast cancer, it generally has a favorable prognosis. The primary management approach typically involves breast-conserving surgery. Due to its rarity, diagnosis can be challenging, emphasizing the importance of histopathological confirmation with clinical and imaging correlation. Although this tumor often has a favorable prognosis, additional research is necessary to better understand its clinical, radiological, and pathological features.

Case presentation: We present the case of a 54-year-old Colombian woman of Hispanic ethnicity who had a lesion detected by mammography at the junction of the upper quadrants. Breast ultrasound revealed a Breast Imaging Reporting & Data System category 5 solid nodule, 0.8 × 0.7 cm, with irregular borders in the left breast and no axillary abnormalities. A biopsy confirmed infiltrating carcinoma with tubular and cribriform patterns. Immunohistochemistry was consistent with adenoid cystic carcinoma of the breast (triple-negative). Contrast-enhanced breast magnetic resonance imaging showed a primary tumor measuring 18 × 11 × 15 mm at the upper quadrant interface, along with another suspicious mass measuring 50 × 10 mm in the retroareolar region, as well as multiple adjacent enhancing foci suggestive of multicentric tumor involvement with probable ductal extension. Due to potential multifocality, the patient underwent a nipple-sparing mastectomy and sentinel node dissection. Pathology revealed a unifocal retroareolar adenoid cystic carcinoma measuring 2.5 mm, situated less than 1 mm from the deep surgical margin and with a positive anterior margin. There was no evidence of lymphovascular or perineural invasion. The final diagnosis was triple-negative adenoid cystic carcinoma, classic subtype. A multidisciplinary board recommended radiotherapy and imaging follow-up. Postoperative outcomes remained satisfactory during follow-up with the breast surgeon.

Conclusion: This case report aims to raise awareness within the medical community regarding this rare cancer, highlighting the importance of accurate clinicopathological recognition and diagnosis. Multidisciplinary management remains crucial as the cornerstone of care, especially for offering therapies tailored to each patient's specific needs.

Background: Although rare, melanoma confined to the dermis or subcutaneous tissue without evidence of a primary cutaneous site should provoke consideration of melanoma of unknown primary. This diagnosis carries a favorable prognosis when compared with cutaneous metastatic melanoma. Several hypotheses have been proposed for how melanoma of unknown primary develops, two of which were considered in our patient case: (1) spontaneous regression of the primary tumor following metastasis or (2) the traumatic implantation of ectopic melanocytic cells in other tissues, such as the subcutaneous tissue. Although not a true example of melanoma of unknown primary, our case is still noteworthy as it represents a unique instance of melanoma presenting subcutaneously from trauma to a preexisting epidermal nevus.

Case presentation: We present the case of a 66-year-old non-Hispanic Caucasian male who initially sought evaluation for a nontender lump of the left groin. Ultrasound-guided needle biopsy demonstrated stage III malignant melanoma. Upon further history taking, it was discovered that he had a nevus of the left medial ankle that was subjected to traumatic removal. He later developed a subcutaneous nodule at the same site. Positron emission tomography scan results supported the histopathologic findings which demonstrated invasive melanoma centered in the subcutaneous tissue without an epidermal component. Following left inguinal lymph node dissection, the patient received adjuvant immunotherapy and radiation to the left inguinal area. At 6 months following completion of therapy, metastases were identified in the lungs, vertebra, ribs, and liver. The patient is currently receiving immunotherapy with ipilimumab-nivolumab.

Conclusion: As our patient did not have a readily apparent primary epidermal melanoma site at presentation, consideration was given as to whether this case may represent a melanoma of unknown primary, as originally defined by Das Gupta. This case does not meet the proposed criteria, however, as the patient reported a preexisting nevus in the area that was subjected to traumatic removal. Instead, we postulate that this trauma allowed for implantation of melanocytes into the subcutaneous tissue that later resulted in a malignant melanoma.