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Beyond the Usual Features-Expanded Dengue Syndrome in Association With Possible Pre-existing Neurological Disease: A Case Report. 超出通常的特征-扩展登革热综合征与可能存在的神经系统疾病相关:一个病例报告。
IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-09-12 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251359429
Warda Fatmi, Usha Kumari, Shehroz Shahid, Maria Waseem, Qamar Un Nisa Mukhtar

Dengue virus infection is a significant public health concern, particularly in endemic areas. This case report highlights the difficulties in diagnosing expanded dengue syndrome (EDS) in a dengue-endemic region. This case report emphasizes keeping high suspicion of index for (EDS) among patients presenting with fever and neurological manifestations particularly in regions where dengue is endemic. The atypical neurological symptoms and inconclusive initial investigations underscore the diagnostic challenges associated with (EDS). Prompt recognition and appropriate laboratory testing, such as detecting dengue NS1 antigen, can aid in accurate diagnosis and subsequent management of patients with this condition. Increased awareness among healthcare providers in endemic regions is crucial for timely identification and intervention in case of dengue-associated neurological complications. Therefore, a multidisciplinary approach is required for time-effective management.

登革热病毒感染是一个重大的公共卫生问题,特别是在流行地区。本病例报告强调了在登革热流行地区诊断扩大登革热综合征(EDS)的困难。本病例报告强调对出现发热和神经系统症状的患者保持高度怀疑,特别是在登革热流行地区。非典型神经症状和不确定的初步调查强调了与(EDS)相关的诊断挑战。及时识别和适当的实验室检测,如检测登革热NS1抗原,可有助于准确诊断和对该病患者的后续管理。提高流行地区卫生保健提供者的认识对于及时发现和干预登革热相关的神经系统并发症至关重要。因此,时间效率管理需要多学科方法。
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引用次数: 0
Beyond Sutures: Moist Exposed Burn Ointment (MEBO) and Scar Massage for Anatomical Restoration of Penetrating Upper Lip Laceration at the Vermilion-Cutaneous Junction in Primary Care-A Case Report. 缝合线之外:湿润暴露烧伤软膏(MEBO)和疤痕按摩在初级护理中用于朱红色皮肤连接处穿透性上唇撕裂伤解剖修复的病例报告。
IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-09-01 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251370546
Hana M Abualadas

Introduction: Workplace-related traumatic lip injuries, particularly at the vermilion-cutaneous junction, are challenging due to functional impairment and visible scarring. While typically managed in specialized settings, some cases present in primary care clinics. This report details the successful management of a penetrating laceration at this junction using layered closure and MEBO for optimized healing, with postoperative scar massage therapy to enhance recovery.

Case presentation: A 19-year-old male construction worker sustained a full-thickness laceration from the vermilion-cutaneous junction to the inner mucosa. The injury was repaired in a primary care clinic, where precise vermilion alignment was essential. Layered closure was performed using absorbable (5-0 Vicryl) sutures for mucosal, muscular, and dermal layers, and nonabsorbable (6-0 Prolene) sutures for the vermilion-cutaneous junction. MEBO, a plant-based ointment primarily used for burns, was applied postoperatively to promote healing, and reduce scarring. Scar massage therapy was initiated after wound healing. Follow-ups at 5 days, 1 week, 6 weeks, and 4 months showed excellent cosmetic outcomes, minimal scarring, and full functional recovery.

Clinical discussion: 6-0 Prolene was preferred over nylon sutures due to its superior biocompatibility. Simple interrupted sutures ensured tension-free closure for optimal healing. MEBO supported epithelial proliferation, moisture retention, and reduced inflammation-promoting faster tissue repair and superior scar remodeling compared to standard antibiotic ointments, petroleum jelly, or silicone gels. Postoperative scar massage further enhanced collagen remodeling, reduced fibrosis, and improved lip flexibility.

Conclusion: This case highlights the feasibility of managing complex lip injuries in a primary care setting and emphasizes the importance of precise anatomical repair, proper suture selection, and novel interventions like MEBO and scar massage. Further research is needed to establish MEBO's role in standard postoperative care for traumatic lip injuries.

工作场所相关的外伤性唇伤,特别是在朱红色皮肤交界处,由于功能损伤和可见的疤痕,是具有挑战性的。虽然通常在专门机构进行管理,但有些病例在初级保健诊所出现。本报告详细介绍了成功的管理穿透性撕裂伤在这个结合处使用分层封闭和湿润烧伤膏优化愈合,术后疤痕按摩治疗,以提高恢复。病例介绍:一名19岁男性建筑工人,从朱红色皮肤连接处到内粘膜全层撕裂伤。损伤在初级保健诊所修复,在那里精确的朱砂对齐是必不可少的。采用可吸收线(5-0维氏线)缝合粘膜层、肌肉层和真皮层,采用不可吸收线(6-0普罗琳线)缝合朱红色皮肤连接处。MEBO是一种主要用于烧伤的植物性软膏,用于术后促进愈合,减少疤痕。创面愈合后开始进行疤痕按摩治疗。随访5天、1周、6周和4个月均显示良好的美容效果,瘢痕最小,功能完全恢复。临床讨论:6-0 Prolene缝合线优于尼龙缝合线,因为其具有更好的生物相容性。简单的间断缝合线确保无张力闭合,达到最佳愈合效果。与标准的抗生素软膏、凡士林或硅胶相比,MEBO支持上皮细胞增殖、水分保持和减少炎症,促进更快的组织修复和更好的疤痕重塑。术后疤痕按摩进一步增强胶原重塑,减少纤维化,改善唇部柔韧性。结论:本病例强调了在初级保健环境中处理复杂唇部损伤的可行性,并强调了精确解剖修复,正确选择缝线以及MEBO和疤痕按摩等新干预措施的重要性。需要进一步的研究来确定湿润烧伤膏在外伤性唇部损伤术后标准护理中的作用。
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引用次数: 0
Hypokalemic Periodic Paralysis in a Patient With Primary Sjögren's Syndrome and Distal Renal Tubular Acidosis: A Case Report. 原发性Sjögren综合征和远端肾小管酸中毒患者的低钾血症性周期性麻痹一例报告。
IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-08-30 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251372407
Vansh Varma, Ajay Kumar Patel, Nitya Pathak, Abhishek Patel, Shubham Kumar, Shilpa Gaidhane, Sanjit Sah, Prakasini Satapathy, Rachana Mehta, Amogh Verma

Introduction: Hypokalemic periodic paralysis (HPP) is a severe yet reversible neuromuscular condition precipitated by profound hypokalemia. Autoimmune disorders can exacerbate renal potassium loss resulting in abrupt muscle weakness. Primary Sjögren's syndrome (pSS), an autoimmune disease characterized by exocrine gland insufficiency, can lead to renal tubular dysfunction and episodes of HPP when distal acidification is compromised.

Case presentation: A 40-year-old woman was admitted with rapidly progressive, painless quadriplegia for over 2 days. Laboratory tests revealed critical hypokalemia (1.4 mEq/L), metabolic acidosis, and alkaline urine pH, which was consistent with type 1 distal renal tubular acidosis (dRTA). Serologic studies confirmed pSS. Corrective measures included intravenous potassium chloride and sodium bicarbonate along with immunomodulation with intravenous methylprednisolone, followed by oral prednisolone.

Discussion: The patient's presentation illustrates how autoimmune-mediated renal tubular dysfunction can precipitate HPP. Failure of distal acid excretion impairs potassium handling, amplifying the risk of potentially life-threatening neuromuscular collapse. Stabilization requires meticulous electrolyte repletion and treatment of the underlying autoimmunity. Restoration of serum potassium levels, acid-base balance, and targeted immunosuppression resulted in rapid clinical improvement.

Conclusion: An accurate diagnosis of HPP secondary to dRTA and Sjögren's syndrome requires high clinical suspicion. Prompt recognition and intervention, including immunotherapy and balanced electrolyte replacement, can prevent profound neuromuscular complications and improve patient outcome.

简介:低钾性周期性麻痹(HPP)是一种严重但可逆的神经肌肉疾病,由深度低钾血症引起。自身免疫性疾病可加重肾钾流失,导致突发性肌肉无力。原发性Sjögren综合征(pSS)是一种以外分泌腺功能不全为特征的自身免疫性疾病,当远端酸化受损时,可导致肾小管功能障碍和HPP发作。病例介绍:一名40岁女性因快速进展,无痛四肢瘫痪入院超过2天。实验室检查显示严重低钾血症(1.4 mEq/L)、代谢性酸中毒和碱性尿pH值,与1型远端肾小管酸中毒(dRTA)一致。血清学研究证实pSS。纠正措施包括静脉注射氯化钾和碳酸氢钠,同时静脉注射甲基强的松龙进行免疫调节,随后口服强的松龙。讨论:患者的表现说明了自身免疫介导的肾小管功能障碍如何导致HPP的发生。远端酸排泄的失败损害了钾的处理,增加了潜在危及生命的神经肌肉衰竭的风险。稳定需要细致的电解质补充和治疗潜在的自身免疫。恢复血清钾水平、酸碱平衡和靶向免疫抑制导致临床迅速改善。结论:准确诊断dRTA继发HPP和Sjögren综合征需要高度的临床怀疑。及时识别和干预,包括免疫治疗和平衡电解质替代,可以预防严重的神经肌肉并发症和改善患者的预后。
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引用次数: 0
Pneumatosis Intestinalis Detected by Point of Care Ultrasound, Case Report. 点超声检测肠性肺肿1例报告。
IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-08-29 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251370547
Zouheir Ibrahim Bitar, Ossama Sajeh Maadarani, Mohamad Abdelfatah, Bibin Antony

Pneumatosis intestinalis (PI) is characterized by the presence of air within the walls of the small intestine, large intestine, and sometimes the gastric wall. The mechanism and pathogenesis of PI are poorly understood. The discovery of PI can occur in the form of an incidental finding, such as a benign course or a life-threatening condition, such as intestinal ischemia. Point-of-care ultrasonography (POCUS) for pneumatosis intestinalis (PI) is rarely reported in adults, with only 1 previous poster presentation. However, POCUS is well-documented in the pediatric population, particularly for the diagnosis of intussusception. We present a 78-year-old man with longstanding uncorrected severe pulmonary stenosis, right-sided heart failure, atrial fibrillation on dabigatran, diabetes, and cirrhosis who presented with progressive abdominal distension. POCUS and computerized tomography of the abdomen showed ascites, diffusing small-bowel wall thickening with edema, and pneumatosis intestinalis, without portal venous gas or vascular occlusion. Patient was transitioned to palliative care on diuretics, lactulose; follow-up ultrasound showed only mild ascites but persistent small-bowel PI. This case report marks the second instance of POCUS being utilized for PI in an adult population. POCUS can play an essential diagnostic role at the bedside, ruling out serious underlying etiologies and guiding physicians in further diagnostic testing.

肠性肺肿(PI)的特征是小肠、大肠和有时胃壁内存在空气。PI的发病机制和发病机制尚不清楚。PI的发现可能以偶然发现的形式发生,例如良性病程或危及生命的情况,例如肠缺血。成人肠肺病(PI)的即时超声检查(POCUS)很少有报道,以前只有1张海报。然而,POCUS在儿科人群中有充分的文献记载,特别是用于肠套叠的诊断。我们报告一位78岁的男性患者,长期未纠正严重肺狭窄,右侧心力衰竭,达比加群心房颤动,糖尿病和肝硬化,并表现为进行性腹胀。腹部POCUS及电脑断层显示腹水,弥漫性小肠壁增厚伴水肿,肠性气积,无门静脉气体或血管闭塞。患者被转移到利尿剂,乳果糖的姑息治疗;随访超声显示仅轻度腹水,但持续小肠PI。该病例报告标志着POCUS在成人中用于PI的第二个实例。POCUS可以在床边发挥重要的诊断作用,排除严重的潜在病因,并指导医生进行进一步的诊断测试。
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引用次数: 0
Acquired Methemoglobinemia Following Nitrobenzene Poisoning: An Unusual Case Report. 硝基苯中毒后获得性高铁血红蛋白血症一例罕见病例报告。
IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-08-25 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251370548
Venkata Sarma Jayant Tetta, Tarun Kumar Suvvari, Sushmitha Reddy Sagili, Srinivasa Rajasekhar Kata, Sindhuja Karangula, Tejinder Singh, Vimal Thomas

Methemoglobinemia is a rare but potentially life-threatening condition characterized by the oxidation of hemoglobin iron from ferrous (Fe²⁺) to ferric (Fe³⁺) state, impairing its oxygen-carrying capacity. Acquired forms can be triggered by exposure to oxidizing agents, such as nitrobenzene. We present the case of a 32-year-old female who developed symptomatic methemoglobinemia following oral ingestion of a commercial stimulant product containing nitrobenzene. She presented with peripheral cyanosis, breathlessness, and hypoxia unresponsive to oxygen therapy. A diagnosis of methemoglobinemia was confirmed, and prompt administration of intravenous methylene blue led to rapid clinical improvement. This case emphasizes the importance of early recognition of acquired methemoglobinemia in the context of toxic exposure, especially when conventional respiratory or cardiac pathology is excluded. Methylene blue remains the first-line antidote, offering effective and timely reversal of symptoms.

高铁血红蛋白血症是一种罕见但可能危及生命的疾病,其特征是血红蛋白铁从亚铁(Fe 2 +)氧化成铁(Fe 3 +)状态,损害其携氧能力。暴露于氧化剂(如硝基苯)可触发后天性。我们提出的情况下,32岁的女性谁发展出症状高铁血红蛋白血症后口服摄入含有硝基苯的商业兴奋剂产品。她表现为外周发绀,呼吸困难,缺氧,对氧治疗无反应。确诊为高铁血红蛋白血症,及时静脉注射亚甲基蓝导致临床迅速改善。本病例强调了在中毒暴露的情况下早期识别获得性高铁血红蛋白血症的重要性,特别是在排除常规呼吸或心脏病理的情况下。亚甲蓝仍然是一线解毒剂,提供有效和及时的逆转症状。
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引用次数: 0
Application of Biocomposite Hydrogel With Developed Trabecular Cage in Lumbar Interbody Fusion: A Clinical Case Report. 生物复合水凝胶与发达小梁笼在腰椎椎体间融合中的应用:1例临床报告。
IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-08-15 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251357427
Murat U Baidarbekov, Olzhas S Bekarisov, Zhangir N Ipmagambetov, Margulan S Abdigalikov, Agzam A Akimbekov

Background: Lumbar interbody fusion (LIF) is a widely used surgical technique for treating degenerative spinal conditions. However, challenges such as pseudarthrosis and implant migration remain significant concerns. This case report presents the use of a novel trabecular titanium cage combined with a biocomposite hydrogel containing stromal-vascular fraction and BMP-2 to enhance osseointegration and accelerate bone fusion.

Case presentation: A 61-year-old female patient with severe chronic lumbar pain, functional impairment, and grade II anterolisthesis of L4 underwent lumbar interbody fusion. A custom-designed trabecular titanium cage was implanted, featuring an optimized porous structure for enhanced fixation and bone ingrowth. To further promote bone regeneration, a biocomposite hydrogel synthesized from adipose-derived stromal-vascular fraction and BMP-2 was applied. Postoperative assessment demonstrated significant pain reduction, improved functional activity, and early bone fusion formation. Radiological imaging confirmed stable implant positioning, progressive trabecularization, and successful osseointegration. No complications, such as implant migration or material loosening, were observed.

Conclusions: This case highlights the potential benefits of combining advanced implant design with bioactive materials in spinal fusion surgery. The approach resulted in early and stable bone integration, reduced pain, and improved functional recovery. Further studies with larger patient cohorts and extended follow-up periods are needed to validate these findings and assess long-term outcomes.

背景:腰椎椎体间融合术(腰椎椎体间融合术)是一种广泛应用于治疗脊柱退行性疾病的手术技术。然而,假关节和植入物迁移等挑战仍然值得关注。本病例报告介绍了一种新型的骨小梁钛笼结合含有基质血管组分和BMP-2的生物复合水凝胶来增强骨融合和加速骨融合。病例介绍:一名61岁的女性患者,患有严重的慢性腰痛、功能障碍和L4级前滑脱,接受了腰椎体间融合术。植入定制的骨小梁钛笼,优化多孔结构,增强固定和骨长入。为了进一步促进骨再生,使用了由脂肪来源的基质血管部分和BMP-2合成的生物复合水凝胶。术后评估显示疼痛明显减轻,功能活动改善,早期骨融合形成。影像学证实种植体定位稳定,骨小梁逐渐成形,骨整合成功。未观察到种植体移位或材料松动等并发症。结论:本病例强调了在脊柱融合手术中将先进的植入物设计与生物活性材料相结合的潜在益处。该方法导致早期和稳定的骨融合,减轻疼痛,改善功能恢复。需要更大的患者队列和更长随访期的进一步研究来验证这些发现并评估长期结果。
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引用次数: 0
Alien Hand Syndrome as the Initial Presentation of Patent Foramen Ovale-Associated Stroke. 异手综合征作为卵圆孔未闭卒中的初始表现。
IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-08-14 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251362059
Drixie D Vargas, Jenny M Garzón, María Cristina Martínez-Ávila, Juan D H Zuluaga, Carolina Sotelo

Alien Hand Syndrome (AHS) is a rare neurological condition characterized by involuntary, goal-directed movements of a limb without conscious control. It is most often associated with stroke in specific brain regions, including the medial frontal and parietal cortices. We report the case of a 33-year-old male with no previous medical history who presented with involuntary movements of the left upper limb, describing it as "moving on its own." Neurological examination was unremarkable, but MRI revealed multiple cortical infarcts in the right frontal and parietal lobes, with both acute and subacute features. Extensive workup ruled out vascular stenosis, dissection, and hypercoagulable states. Transthoracic echocardiography showed normal left ventricular function and a hypermobile interatrial septum. Transesophageal echocardiography confirmed the presence of a tunnel-shaped patent foramen ovale (PFO; 0.4 mm × 0.3 mm) without thrombus. No deep vein thrombosis or other embolic sources were found. A diagnosis of cardioembolic stroke due to paradoxical embolism through a PFO was established. The patient underwent successful percutaneous closure and started dual antiplatelet therapy. At follow-up, AHS symptoms improved significantly. This case highlights an atypical initial presentation of ischemic stroke in a young adult and emphasizes the need for early neuroimaging and comprehensive cardiac evaluation in cryptogenic strokes.

异手综合征(AHS)是一种罕见的神经系统疾病,其特征是肢体在没有意识控制的情况下不自主地、有目标地运动。它通常与特定大脑区域的中风有关,包括内侧额叶和顶叶皮质。我们报告一例33岁男性,既往无病史,表现为左上肢不自主运动,描述为“自行移动”。神经学检查无明显异常,但MRI显示右侧额叶和顶叶多发皮质梗死,具有急性和亚急性特征。广泛的检查排除了血管狭窄、夹层和高凝状态。经胸超声心动图显示左心室功能正常,心房间隔过度活动。经食管超声心动图证实存在一隧道状卵圆孔未闭(PFO; 0.4 mm × 0.3 mm),无血栓。未发现深静脉血栓或其他栓塞源。诊断心脏栓塞性中风由于矛盾栓塞通过PFO被建立。患者成功经皮闭合并开始双重抗血小板治疗。随访时,AHS症状明显改善。本病例强调了年轻成人缺血性卒中的非典型初始表现,并强调了隐源性卒中早期神经影像学和全面心脏评估的必要性。
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引用次数: 0
Atypical Presentation of Kawasaki Disease With Coronary Artery Aneurysms in a 2.5-Month-Old Infant: A Case Report From Syria. 川崎病合并冠状动脉动脉瘤的不典型表现在一个2.5个月大的婴儿:一个来自叙利亚的病例报告。
IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-08-05 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251359774
Suzan Mahfoud, Aous Arous, Danial Antonios, Hussein Jasser, Abdulrahman Shbani

Kawasaki disease (KD), a febrile vasculitis primarily affecting young children under 5, is commonly associated with coronary artery complications. This report describes the case of a 2.5-month-old infant presenting with a persistent 15-day fever, initially misidentified as pharyngitis and otitis media. Laboratory tests indicated significant leukocytosis, thrombocytosis, and increased C-reactive protein (CRP) levels. Echocardiography revealed coronary artery dilation and pericardial effusion, confirming a KD diagnosis. The infant received intravenous immunoglobulin (IVIG) and high-dose aspirin, which resolved the fever. Symptom recurrence necessitated additional IVIG and corticosteroid treatment. Subsequent imaging showed ongoing coronary dilation, emphasizing the risk of lasting vascular complications. This case underscores the diagnostic challenges of KD in infants, especially those with atypical presentations. Prompt diagnosis and treatment are critical to prevent serious complications such as coronary aneurysms. Healthcare providers should consider KD in infants with prolonged unexplained fevers to improve prognosis and minimize heart-related risks.

川崎病(KD)是一种主要影响5岁以下幼儿的发热性血管炎,通常与冠状动脉并发症有关。本报告描述了一个2.5个月大的婴儿出现持续15天发烧的病例,最初被误认为是咽炎和中耳炎。实验室检查显示明显的白细胞增多、血小板增多和c反应蛋白(CRP)水平升高。超声心动图显示冠状动脉扩张和心包积液,证实了KD的诊断。婴儿接受静脉注射免疫球蛋白(IVIG)和大剂量阿司匹林,发热消退。症状复发需要额外的IVIG和皮质类固醇治疗。随后的影像学显示持续的冠状动脉扩张,强调了持续血管并发症的风险。这个病例强调了诊断婴儿KD的挑战,特别是那些不典型的表现。及时诊断和治疗对于预防冠状动脉瘤等严重并发症至关重要。医疗保健提供者应考虑患有长期不明原因发热的婴儿的KD,以改善预后并将心脏相关风险降至最低。
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引用次数: 0
Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report. Pfeiffer综合征(肢头并指)伴明显并指和短指1例。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-07-04 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251353333
Justus Omokhafe Justus

We report a case of acrocephalosyndactyly, Pfeiffer syndrome type 1 with a mutation in FGFR2 c.758C>G (p.Ser253Trp) in a newborn with mild midfacial hypoplasia, significant brachydactyly and syndactyly in the hands and feet. One of the hallmark features of Pfeiffer syndrome is webbing or fusion (syndactyly) of the fingers and toes, which can vary in severity affecting both hands and feet. This variable expressivity of Pfeiffer syndrome makes classification of the condition challenging. Diagnosis was confirmed by genetic testing. Imaging investigations, clinical observation and physical examination further highlights the importance of interdisciplinary care involving orthopedic, neurosurgeons, geneticists, and pediatricians. Long-term follow-up is essential to monitor growth and development, while addressing associated complications including hearing loss and tracheal stenosis. This case underscores the complexity of acrocephalosyndactyly and its varying presentation. The baby was born at 35 weeks to non-consanguineous parents, with craniosynostosis, midfacial hypoplasia, broad thumbs, and toes.

我们报告一例伴有FGFR2 c.758C>G (p.Ser253Trp)突变的1型Pfeiffer综合征,新生儿伴有轻度面中发育不全,手和脚有明显的短指和并指。Pfeiffer综合征的一个标志性特征是手指和脚趾的蹼状或融合(并指),其严重程度不同,影响双手和双脚。Pfeiffer综合征的这种可变表达性使得该疾病的分类具有挑战性。通过基因检测确诊。影像学调查、临床观察和体格检查进一步强调了涉及骨科、神经外科、遗传学家和儿科医生的跨学科护理的重要性。长期随访对监测生长发育至关重要,同时解决相关并发症,包括听力损失和气管狭窄。本病例强调了肢头并指的复杂性及其不同的表现。婴儿于35周出生,父母为非近亲,颅缝闭合,面中发育不全,拇指和脚趾较宽。
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引用次数: 0
Acute Lymphoblastic Leukemia Presenting With Initial Hyperbilirubinemia and Significantly Elevated Liver Transaminases: A Rare Pediatric Case With Unadjusted Chemotherapy. 以初始高胆红素血症和显著升高的肝转氨酶为表现的急性淋巴细胞白血病:一例罕见的未经调整化疗的儿童病例。
IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-06-26 eCollection Date: 2025-01-01 DOI: 10.1177/11795476251351514
Atbin Latifi, Mahbod Soltani, Mohammad Satarzadeh, Negar Pourahmadian, Amirreza Hesami Rad

Acute lymphoblastic leukemia (ALL) rarely presents with initial liver failure. We describe a 9-year-old boy with no past medical history who presented with jaundice, hyperbilirubinemia (total bilirubin 13.1 mg/dL), and significantly elevated transaminases (ALT 1283 U/L, AST 1325 U/L). Bone marrow aspiration confirmed precursor B-cell ALL. Despite severe hepatic dysfunction, full-dose induction chemotherapy was administered following corticosteroid therapy, leading to rapid improvement in liver function and normalization by day 29. No complications were observed, and at the end of induction, minimal residual disease was 0.001%. This case of successful unadjusted chemotherapy, with leukemic infiltration identified as the etiology of hepatitis, underscores the importance of early diagnosis, multidisciplinary management, close monitoring, and highlights the need for further investigation into safe treatment protocols in such cases.

急性淋巴细胞白血病(ALL)很少以肝功能衰竭为首发表现。我们描述了一个9岁的男孩,没有既往病史,表现为黄疸,高胆红素血症(总胆红素13.1 mg/dL),转氨酶显著升高(ALT 1283 U/L, AST 1325 U/L)。骨髓穿刺证实前体b细胞ALL。尽管存在严重的肝功能障碍,但在皮质类固醇治疗后给予全剂量诱导化疗,导致肝功能迅速改善并在第29天恢复正常。未观察到并发症,诱导结束时,最小残留病变为0.001%。这例成功的未经调整的化疗,白血病浸润被确定为肝炎的病因,强调了早期诊断、多学科管理、密切监测的重要性,并强调了进一步研究此类病例的安全治疗方案的必要性。
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Clinical Medicine Insights. Case Reports
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