SAGE Open Medical Case Reports最新文献

Hepatocyte nuclear factor 1β (HNF1β)-related disease is a rare autosomal dominant genetic disorder. It presents with diverse clinical phenotypes and involves multiple systems. We report a heterozygous c.544C>T mutation in the HNF1β gene identified in three members of a Han Chinese family. All patients presented with renal cysts, renal impairment, hyperuricemia, hypomagnesemia, and hyperparathyroidism. Only the proband exhibited hyperglycemia, pancreatic dysplasia, and genital malformations. The older son presented with asymptomatic elevation of liver enzymes, while the younger son had left renal hypoplasia. Whole exome sequencing revealed a nonsense mutation of HNF1β gene in the proband and his two sons (NM_000458.4: c.544C>T: p. Gln182Ter). The proband underwent renal replacement therapy for end-stage renal disease. His son received high-quality, low-protein diet combined with medication for renal protection, uric acid reduction, and hypomagnesemia correction. The older son received ursodeoxycholic acid and hepatoprotective drugs to normalize liver enzyme levels. All patients showed significant symptom improvement after treatment during the long-term follow-up. This case report highlights the multi-organ involvement, diagnostic challenges, and importance of comprehensive genetic analysis in HNF1β-related disease. Recognition of this condition can reduce unnecessary kidney biopsies and minimize misdiagnosis and missed diagnosis.

Cutaneous leishmaniasis is increasingly reported in non-endemic areas due to international travel. This case describes a 17-year-old male from Western Canada who developed localized cutaneous leishmaniasis (Leishmania mexicana) after visiting the Yucatán Peninsula, Mexico. His persistent skin ulcers initially failed to respond to supportive wound care, thermotherapy, and systemic antimicrobials. Skin biopsy revealed granulomatous inflammation, and polymerase chain reaction confirmed L. mexicana species. Limited access to first-line treatments (e.g. miltefosine) in Canada complicated management. While intravenous liposomal amphotericin B provided partial improvement, complete healing occurred only after obtaining miltefosine. This case highlights the challenges of diagnosing and treating cutaneous leishmaniasis in non-endemic regions.

Dislocation of the intraocular lens after cataract surgery is uncommon but can cause a serious complication. We present a rare case of a patient with a dislocated posterior chamber intraocular lens and subluxated anterior chamber intraocular lens in the same eye, including its management, complications, and visual outcomes. A 65-year-old man with a history of cataract surgeries was found to have two displaced intraocular lenses in one eye, one subluxated within the anterior chamber and another dislocated into the vitreous cavity. Surgical procedures were performed to remove both displaced intraocular lenses, followed by the management of postoperative complications. After removal of intraocular lens implants via pars plana vitrectomy and insertion of scleral-fixated intraocular lens, the patient developed postoperative cystoid macular edema and epiretinal membrane. Subtenon triamcinolone acetonide injection partially resolved the cystoid macular edema, and the visual outcome was satisfactory. Understanding this case may aid in surgical planning and facilitate effective postoperative management of complications, ultimately leading to an optimal visual outcome.

When abdominal pain presents with peripheral eosinophilia, allergic and infectious causes should be considered. However, diagnostic dilemmas are frequent when symptoms do not match expected patterns of common etiologies. In this report, we present the case of a 13-year-old male who presented with diffuse abdominal pain and peripheral eosinophilia. Though the initial assessment suggested an infectious cause, the infectious workup was negative. A broad workup, including imaging, laboratory studies, and endoscopy, was performed. Targeted endoscopic biopsies revealed extensive eosinophilic gastrointestinal disease as the underlying pathophysiologic cause. A broad differential and extensive workup is often crucial for accurate diagnosis of abdominal pain with hypereosinophilia.

Our case involves the clinical course of a healthy male infant who developed a calcified cephalohematoma despite no history of birth trauma or the use of assistive delivery instruments. Another unique feature of the patient's presentation was the young age at which the cephalohematoma was determined to be calcified, noted at 34 days of life. The management of the patient is discussed along with a review of the epidemiology, treatment, and prognosis of cephalohematomas. It is widely understood that most cephalohematomas reabsorb within ~30 days, but it is imperative that the general pediatrician is aware of potential complications that may arise and subsequent next steps in management. The long-term neurologic effects from an untreated calcified cephalohematoma have not been well-studied; however, prompt evaluation is recommended to prevent permanent cosmetic changes and psychosocial impact due to cranial vault distortion.

Localized scleroderma, or morphea, is a chronic fibrosing skin condition with limited therapeutic options, particularly for patients who are elderly, immunocompromized, or intolerant to systemic immunosuppressants. We present three adult patients with severe, treatment-refractory localized scleroderma who demonstrated rapid and substantial clinical improvement following initiation of topical roflumilast 0.3% cream under occlusion. All patients had failed or declined systemic therapy. Within 6-12 weeks, each showed marked reductions in inflammatory activity, pain, and skin induration, as measured by validated clinical scores (Localized Scleroderma Activity Index, Physician's Global Assessment of Activity/Damage). No adverse events were reported. Roflumilast, a potent phosphodiesterase-4 inhibitor with anti-inflammatory and antifibrotic properties, may offer a well-tolerated, nonimmunosuppressive treatment option in morphea. This is the first reported case series using topical roflumilast in localized scleroderma and supports further investigation of phosphodiesterase-4 inhibition as a therapeutic strategy in fibrosing skin disease.

Chronic erythroderma with persistent hypereosinophilia presents significant diagnostic and therapeutic challenges. We report the case of a 26-year-old man with a 6-year history of refractory erythroderma and eosinophilia. Extensive workup excluded malignancy, autoimmune disease, and secondary causes of eosinophilia. Genetic testing revealed no pathogenic variants but identified a variant of uncertain significance in HTRA2. High-dose mepolizumab monotherapy significantly reduced eosinophil counts but yielded modest clinical improvement. The addition of abrocitinib, previously ineffective alone, led to rapid and sustained symptomatic and biochemical remission. The patient experienced marked improvement in pruritus, scaling, and quality of life; subsequent withdrawal of mepolizumab led to symptom recurrence. This case highlights the complexity of managing erythroderma with hypereosinophilia and suggests that eosinophilia may be a disease marker rather than the primary symptom driver. Combined targeting of eosinophils and broader cytokine pathways via anti-interleukin-5 and JAK1 inhibition may be necessary for effective disease control in refractory cases.

We present a unique case of an 8-year-old boy with severe, treatment-refractory palmoplantar psoriasis and genital involvement, unresponsive to nine systemic agents, including multiple biologics and TYK2 inhibition with deucravacitinib. Following years of debilitating symptoms and functional impairment, he achieved near-complete resolution within 2 weeks of initiating upadacitinib monotherapy. This dramatic and sustained response highlights the potential role of JAK1 inhibition in modulating complex inflammatory pathways in pediatric psoriasis, particularly in challenging anatomic sites and refractory cases.

Adalimumab, a tumor necrosis factor-alpha inhibitor, is widely used for chronic plaque psoriasis and psoriatic arthritis. While cutaneous adverse effects are known, perforating dermatosis is rare and poorly understood. A 34-year-old woman with psoriasis and psoriatic arthritis developed acquired perforating dermatosis after switching from adalimumab biosimilar GP2017-CTP17. She presented painful, ulcerated plaques on the thighs, gluteal area, and elbows. Histopathology confirmed the diagnosis. The biosimilar drug was discontinued and a 4-week course of systemic corticosteroids led to complete resolution. Both conditions were later managed with methotrexate and ixekizumab. Perforating dermatosis following anti-tumor necrosis factor is rare and underreported with adalimumab. No other known triggers (e.g., diabetes and renal failure) were present. Hypothesized mechanisms include fibronectin dysregulation and advanced glycation end accumulation, disrupting keratinocyte function. Perforating dermatosis should be recognized as a rare adverse effect of tumor necrosis factor-alpha inhibitors. Early recognition and discontinuation may prevent progression. Further studies are needed to clarify pathogenesis.

Postoperative acute respiratory distress syndrome (ARDS), characterized by bilateral infiltrates and severe hypoxemia, is a critical complication following thoracic surgery, particularly lung resection. Perioperative transfusions and mechanical ventilation strategies are potential contributors to ARDS development, yet the exact mechanisms driving this association remain incompletely understood. Despite advancements in surgical and perioperative care, ARDS remains a severe complication with a high mortality rate. This study explores the occurrence of ARDS in two patients with nonsmall-cell lung cancer postlung resection, focusing on the association of intraoperative blood transfusion and mechanical ventilation parameters. Both patients received intraoperative blood transfusions (>2 U red blood cells) and exhibited elevated peak plateau pressure (30-31 cmH₂O) with tidal volumes of 6 to 8 mL/kg. Postoperatively, both patients developed acute pulmonary edema and hypoxemia, requiring intensive care management, including mechanical ventilation, lung-protective ventilation strategies, restrictive fluid management, and pharmacological therapy. One patient recovered and was discharged, whereas the other died. ARDS after lung resection arises from synergistic insults, including transfusion-induced inflammation, mechanical ventilation stressors, and reduced pulmonary reserve. Strict adherence to lung-protective ventilation, restrictive transfusion volumes, and multidisciplinary perioperative care are essential to improve outcomes. Future research should prioritize multicenter studies to validate causal mechanisms and refine evidence-based protocols, addressing the urgent need for targeted therapies to reduce ARDS-related mortality.