Journal of medical cases最新文献

Umbilical discharge in adults is a rare presentation in primary care and is frequently misdiagnosed as superficial infections, umbilical dermatitis, or abscesses, particularly in individuals with known predisposing factors such as obesity, poor hygiene, or diabetes mellitus. However, in the absence of these risk factors, the possibility of underlying congenital anomalies such as a patent urachus should be considered, as prompt recognition and diagnosis are paramount to prevent complications such as recurrent infections, abscess formation, and even malignant transformation. We report the case of a 29-year-old healthy male who presented to a primary care clinic with a 5-day history of purulent umbilical discharge and abdominal pain without associated fever or systemic symptoms. Physical examination revealed mild periumbilical erythema and purulent discharge but no palpable mass. The absence of typical risk factors for superficial infection raised clinical suspicion of an underlying pathology. Early diagnostic workup with ultrasound revealed a hypoechoic collection within the subcutaneous tissues, and subsequent contrast-enhanced computed tomography (CT) confirmed an infected umbilical urachal sinus. The patient was promptly referred to a surgical team for inpatient management. He was commenced on intravenous amoxicillin-clavulanic acid and underwent an incision and drainage for the infected umbilical urachal sinus. He made an uneventful recovery and was arranged for an elective laparoscopic excision of the urachal remnant. This case highlights several important learning points. In adults, urachal anomalies are rare and frequently misdiagnosed as superficial infections or abscesses, especially in the context of comorbidities such as diabetes and obesity. This case highlights the importance of maintaining a broad differential diagnosis, including rare congenital conditions such as a patent urachal sinus, when assessing adults presenting with umbilical discharge. It also illustrates the critical role of primary care providers in recognizing uncommon conditions, as timely recognition and diagnosis are essential for the effective management of this rare but potentially serious condition.

Osteopetrosis is a rare inherited osteoclast dysfunction disorder that produces bone that is both abnormally dense and brittle, complicating fracture management and internal fixation. Most cervical spine injuries reported in osteopetrosis involve the craniovertebral junction (C1-C2) and are treated surgically because of presumed instability. Reports of multilevel mid-cervical fractures with ligamentous injury successfully treated nonoperatively are exceedingly scarce. We present the case of a 22-year-old man with longstanding osteopetrosis who sustained high-energy trauma resulting in a displaced posterior-inferior C4 body fracture with associated left C4 lateral-mass involvement, nondisplaced left C3 inferior-facet and C6 pedicle fractures, and magnetic resonance imaging (MRI) evidence of focal cord T2 signal, posterior longitudinal ligament injury, and a small epidural hematoma. Despite this constellation - which, in normal bone, would often mandate operative stabilization - the patient remained neurologically intact, with acceptable alignment and negative vascular imaging. Given the unique surgical hazards of osteopetrotic bone (poor screw purchase, intraoperative fracture risk, delayed union), conservative management was chosen using a rigid cervical orthosis (Miami J^®, Ossur ehf., Reykjavik, Iceland) and serial imaging follow-up. At 1 year, flexion-extension computed tomography demonstrated complete osseous bridging of the C3 facet and C4 body fractures, partial but stable bridging across the C4 facet and lamina and preserved alignment. The patient remained asymptomatic and neurologically intact. This case expands the evidence base for nonoperative management of cervical fractures in adult osteopetrosis beyond C1-C2 patterns. It highlights that rigid-collar immobilization, when neurological function and alignment are preserved and vascular injury is excluded, can yield stable union without surgery. Flexion-extension computed tomography provides a practical endpoint, supporting acceptance of stable partial radiographic healing when dynamic stability is maintained.

Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and potentially life-threatening syndrome of aberrant immune hyperactivation characterized by excess cytokine release due to abnormal cytotoxic T-cell and macrophage activation. Secondary, or acquired, HLH occurs in the setting of underlying infection, malignancy, or autoimmune processes and often presents with systemic symptoms and multi-organ dysfunction that can initially be misattributed to infection, leading to a delay in diagnosis and management. Histoplasmosis-associated HLH is an infrequently described manifestation of secondary HLH that can occur in the setting of immunocompromised states. A 67-year-old woman with a history of granulomatosis with polyangiitis on active mycophenolate mofetil treatment initially presented with persistent flu-like symptoms in the setting of pancytopenia and elevated liver enzymes. Despite appropriate sepsis evaluation and extensive antimicrobial treatment, she remained persistently febrile and developed acute respiratory failure. Lab work revealed severely abnormal coagulation factors, hypofibrinogenemia, hyperferritinemia, and hypertriglyceridemia concerning for underlying hematologic disease process. Bone marrow biopsy obtained showed a hypercellular marrow with histiocytosis and hemophagocytic forms as well as intracellular narrow-based budding yeast, confirming an HLH diagnosis and suggestive of disseminated histoplasmosis. She was subsequently started on a high-dose steroid taper, intravenous immunoglobulin, and anti-fungal therapy with clinical improvement and stabilization of blood counts. Post-discharge follow-up has not involved repeat hospitalizations. Diagnosing HLH requires consideration of both clinical and laboratory criteria but there remains a lack of consensus use, especially in adult patients and those with associated autoimmune disease. Furthermore, the clinical presentation of HLH can overlap significantly with sepsis or other acute illnesses, thus delaying timely diagnosis and interventions for optimal patient outcomes. Our case emphasizes the importance of early consideration and comprehensive evaluation in this setting for HLH and secondary causes, including fungal etiologies. Additional clinical reporting of this rare presentation can increase clinician recognition and highlight potential diagnostic and treatment approaches. Subsequent close clinical observation with serial examinations and biochemical marker follow-up are needed to assess response and evaluate for changes in treatment approach.

Eccrine carcinoma is an exceedingly rare malignancy originating from the eccrine sweat glands, representing less than 0.01% of all cutaneous malignancies. The diagnosis of eccrine carcinoma is challenging due to its rarity. Its morphological similarities with other common tumors, especially breast cancer, further complicate assessment. It is crucial to differentiate eccrine carcinoma from metastatic breast cancer. In addition, the standard treatment is also not well established. We present the case of a 66-year-old female with a lesion on her left lip. Initially identified in 2017, the lesion recurred in 2020 and 2023. Surgeries in 2017 and 2020 achieved R0 resections, while the 2023 recurrence was an R2 resection with lymph node metastasis. Pathology suggested a possible primary breast ductal carcinoma. Immunostains were positive for estrogen receptor (ER) and progesterone receptor (PR). However, positron emission tomography/computed tomography (PET/CT) did not reveal any primary breast lesion, and there was no accessory breast tissue involvement, leading to a diagnosis of primary eccrine carcinoma. The patient declined chemotherapy and radiation therapy, opting instead for treatment with letrozole and ribociclib. Six-month follow-up imaging showed reduced lymph node size, suggesting a favorable response to therapy. This case highlights the diagnostic challenges of eccrine carcinoma, given that it mimics malignancies like breast cancer. Hormone therapy may be a potential option for hormone receptor-positive cases. Further research is essential to develop clearer diagnostic tools and standardized treatment protocols for this rare malignancy.

Chronic limb-threatening ischemia (CLTI) presents a significant management challenge. We describe the case of an 80-year-old female with CLTI and dry gangrene who underwent a common femoral artery (CFA)-to-posterior tibial artery (PTA) bypass that remained patent but was inadvertently anastomosed to the peroneal vein, resulting in venous arterialization. Postoperatively, her gangrene progressed and pain worsened, prompting an offer of below-knee amputation. Upon presentation for a second opinion, angiography confirmed the patent but malpositioned bypass. Given her extensive comorbidities, she was considered a poor candidate for open revision. We report successful percutaneous correction using the venous arterialization simplified technique (VAST), which re-established flow from the bypass graft back into the arterial lumen of the PTA using a double-gunsight approach. A 5 × 100 mm Viabahn stent graft was deployed to bridge the bypass and PTA, followed by angioplasty of the PTA and plantar artery, restoring in-line perfusion to the plantar arch and digital runoff. At 2-month follow-up, the patient demonstrated marked wound healing and avoided amputation. This case underscores the role of innovative endovascular rescue techniques in high-risk patients with preserved distal runoff and limited surgical options.

Spinal anesthesia (SA) is increasingly recognized as a preferred alternative to general anesthesia (GA). Nonetheless, several factors must be carefully considered to ensure safe and practical application. Vasovagal syncope (VVS) or vasovagal reaction, characterized by a sudden decrease in heart rate (HR) and/or blood pressure (BP), is common during pain management procedures and SA administration in patients undergoing surgery. We report the case of a 57-year-old male who underwent SA during penoscrotal inflatable penile prosthesis (IPP) implantation. During the corporotomy closure, the patient developed a brief episode of sudden severe bradycardia and low BP, which was attributed to VVS. Penile prosthesis implantation (PPI) is commonly performed with SA. Both urologists and anesthesiologists strongly recommend identifying important risk factors, such as VVS, before SA to facilitate monitoring and rapid response to VVS during the procedure.

Ocular manifestations of syphilis can occur at any stage of the disease and present with a wide range of clinical features. If left untreated, they carry a high risk of permanent vision loss. Although syphilis mainly affects individuals with human immunodeficiency virus (HIV) positive and other immunocompromised individuals, it can also present in immunocompetent individuals. A 61-year-old immunocompetent male presented with blurry vision and associated central vision loss in the left eye. Initial ophthalmologic evaluation revealed bilateral optic-disc swelling and serological tests positive for syphilis, with rapid plasma reagin (RPR) of 1:128 and positive immunoglobulin (Ig)G/IgM, confirming ocular syphilis. The patient was started on intravenous (IV) penicillin G for 14 days and required a prolonged course along with oral steroids due to persistent syphilitic uveitis. This case report highlights the importance of maintaining a low threshold for syphilis screening in patients with unexplained vision loss, regardless of their HIV status. Timely diagnosis and intervention are critical to avoid misdiagnosis and prevent irreversible visual sequelae.

Gastric heterotopia (GHT) is the presence of gastric mucosa outside the stomach, including in the rectum. A 59-year-old man presented with rectal bleeding and altered bowel habits, along with long-standing low blood pressure and erectile dysfunction. Investigations confirmed rectal GHT, initially managed conservatively, followed by mucosectomy, which improved his gastrointestinal symptoms. However, persistent dizziness, blurred vision, and urinary symptoms prompted neurological evaluation, revealing autonomic nervous system (ANS) dysfunction. This case represents the first reported co-occurrence of GHT and ANS dysfunction. Although both conditions are rare and typically unrelated, their co-presentation suggests a possible link. We hypothesize that chronic inflammation or neurochemical signaling from ectopic gastric mucosa may contribute to autonomic disruption. Further research is needed to explore shared pathophysiological mechanisms.

Post-transplant lymphoproliferative disorder (PTLD) is a rare disorder that can occur in both stem cell and organ transplant recipients. Most cases of PTLD arise from Epstein-Barr virus (EBV)-induced oncogenesis but it can be EBV-negative. The treatment algorithm involves reduction in immunosuppression combined with anti-CD20 antibody treatment followed by chemotherapy. Despite this, mortality is still high, and many patients have refractory disease. Refractory PTLD is challenging to treat, and the data on treatment are limited. Both stem cell transplant and chimeric antigen receptor T-cell (CAR-T) therapies have been described in case reports and small reviews, but success has been limited. Hence, there is a need for novel therapies and clinical trials to formulate better treatment plans. Here, we present a complex case of refractory EBV-negative PTLD that progressed on third-line treatment. Given the patient's limited options, glofitamab, a bispecific antibody therapy, was initiated in attempt to bridge to CAR-T therapy. Unfortunately, the patient encountered multiple hospitalizations and eventually elected for hospice care not long after initiation of this fourth-line regimen began. Herein, we detail the diagnosis and treatment options for EBV-negative refractory PTLD with an in-depth literature review that highlights bispecific antibodies as a potential novel therapy.

The trismus pseudocamptodactyly syndrome (Beals syndrome) is an uncommon autosomal dominant condition first described in 1971. The disorder shares phenotypic similarities with Marfan syndrome. Affected patients classically present with two main physical features: limited excursion of the mandible and flexion deformity of the fingers that occurs with wrist extension (pseudocamptodactyly). The primary cellular defect is a mutation of the fibrillin-2 (FBN2) gene on chromosome 5q23. Mutations to this gene change the structure of the FBN2 protein, decreasing the elasticity and altering the strength of microfibrils in the connective tissue. The connective tissue defect leads to short muscle tendon units, which prevent normal growth and development. We present an 11-year-old boy with Beals syndrome who presented for anesthetic care during posterior spinal fusion (PSF). To date, there are a limited number of reports in the literature outlining anesthetic care in these patients. End-organ involvement of Beals syndrome is outlined, the potential impact on perioperative care discussed, and previous reports of anesthetic care reviewed.