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Aesthetic restoration of post burn apparent Amastia; A case report 烧伤后明显畸形的美学修复病例报告
Pub Date : 2026-01-23 DOI: 10.1016/j.hmedic.2026.100418
Muhammad Rehan, Qurra tul ain, Junaid Mehmood Malik, Tariq Iqbal, Muhammad Hassaan Tariq, Muhammad Shais Khan, Muhammad Ibrahim

Background

Deep burns of chest wall in childhood especially in females can lead to overwhelming long term complications including psychological distress due to possible loss of femininity. These complications may often demand complex surgical procedures. Treatment of childhood acute burns need special attention, preserving viable tissues, considering the complexities with growth in the future development of child.

Case presentation

In this case report, we present a female of 19 years who got burned at the age of 5 years and presented with bilateral absent breasts. After taking history, physical exam, pre-operative lab investigations and ultrasound bilateral mammary glands were retracted from anterior abdominal surface and realigned on chest wall. Patient was satisfied with cosmetic results.

Conclusion

Females with anterior chest wall burns before puberty can end up with breast development complications. Regular follow up of patients especially during puberty phase can prevent complicated breast deformities and also help reduce anxiety among growing females. There is no standard protocol to follow for reconstruction of post burn burned breast. Every patient demands specific surgical procedure according to peculiar situation.
儿童时期胸壁深度烧伤,尤其是女性胸壁深度烧伤可导致严重的长期并发症,包括由于可能丧失女性气质而造成的心理困扰。这些并发症通常需要复杂的外科手术。儿童急性烧伤的治疗需要特别注意,保留有活力的组织,考虑到儿童未来发展的复杂性。在这个病例报告中,我们报告了一名19岁的女性,她在5岁时被烧伤,并表现为双侧乳房缺失。经病史、体格检查、术前实验室检查和超声检查后,双侧乳腺从腹前表面收回,在胸壁上重新排列。病人对美容效果很满意。结论女性青春期前胸壁烧伤可导致乳房发育并发症。定期随访患者,特别是在青春期,可以预防复杂的乳房畸形,也有助于减少焦虑的成长中的女性。烧伤后乳房的重建没有标准的方案可遵循。每个病人都需要根据特殊情况进行特定的手术。
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引用次数: 0
Osgood-Schlatter disease with atypical pain radiations in an adolescent: Exploring the role of benevolent parental diagnostic neglect 青少年奥斯古德-舒拉特病伴非典型疼痛放射:探讨善意父母诊断忽视的作用
Pub Date : 2026-01-23 DOI: 10.1016/j.hmedic.2026.100419
Ibrahim Npochinto Moumeni , Faustin Atemkeng Tsatedem

Background

Osgood-Schlatter disease, although generally benign, can evolve toward complex chronic forms in cases of diagnostic delay, particularly in African contexts where access to specialized care is limited. To our knowledge, radiating pain to both ankle and inguinal regions has not been previously documented in Osgood-Schlatter disease (PubMed, Embase, Google Scholar search 2000–2025). We report such a case and explore the role of "benevolent parental neglect" as a potential contributor to delayed diagnosis.

Case presentation

We report the case of a 14-year-old adolescent presenting with chronic bilateral Osgood-Schlatter disease evolving since childhood, complicated by atypical pain radiations toward the ankle and inguinal fold—a presentation not identified in our literature search. The 7-year diagnostic delay is attributed to "benevolent parental neglect," with parents initially interpreting complaints as "childhood whims.

Management

An integrative approach combining hospital-based osteopathy (80 %) with gentle pediatric techniques, formal medical prescription, and coordinated distance self-rehabilitation (20 %) was implemented. Reinforced parental involvement and follow-up were maintained over 3 months.

Results

Clinically meaningful improvements were observed in pain (VAS 7/10–3/10) and knee flexion (90° to 130°) after 3 months of integrative treatment. Parental compliance reached 95 %, enabling a return to normal activities.

Conclusion

This case suggests four exploratory concepts for further investigation: benevolent parental neglect, compensatory biomechanical cascade, integrated hospital osteopathy, and morpho-functional risk profile. These hypothesis-generating observations from a single case may offer a preliminary framework for understanding complex presentations in resource-limited settings. The integrated hospital osteopathy protocol warrants validation through controlled studies.
杜斯古德-谢尔特病虽然通常是良性的,但在诊断延误的情况下可演变为复杂的慢性形式,特别是在获得专业护理的机会有限的非洲地区。据我们所知,在奥斯古-施拉特病(PubMed, Embase,谷歌Scholar search 2000-2025)中,以前没有记录到踝关节和腹股沟区域的放射性疼痛。我们报告了这样一个案例,并探讨了“善意的父母忽视”作为延迟诊断的潜在因素的作用。我们报告一名14岁青少年的病例,表现为慢性双侧奥斯古德-舒拉特病,自儿童期发展,并伴有非典型的踝关节和腹股沟襞放射疼痛,在我们的文献检索中未发现这种表现。7年的诊断延迟被归因于“善意的父母忽视”,父母最初将抱怨解释为“童年的异想天开”。管理采用以医院为基础的整骨疗法(80% %)、温和的儿科技术、正式的医疗处方和协调的远程自我康复(20% %)相结合的综合方法。加强父母参与并随访超过3个月。结果综合治疗3个月后,疼痛(VAS 7/10-3/10)和膝关节屈曲(90°至130°)均有明显改善。家长的依从性达到95% %,能够恢复正常的活动。结论本病例提出了四个探索性概念:善意的父母忽视、代偿性生物力学级联、综合医院骨病和形态功能风险谱。这些从单一案例中产生假设的观察可能为理解资源有限环境下的复杂表现提供初步框架。综合医院整骨治疗方案值得通过对照研究验证。
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引用次数: 0
Duodenal Dieulafoy’s lesion: A rare cause of gastrointestinal hemorrhage in two Ethiopian patients – Case report 十二指肠diulafoy病变:两例埃塞俄比亚患者胃肠出血的罕见病因-病例报告
Pub Date : 2026-01-22 DOI: 10.1016/j.hmedic.2026.100416
Kaleb Assefa Berhane , Telile Belissa Gobosho , Abdu Mohammed , Ahmed Adem , Abate Bane Shewaye , Biniyam Argaw Sileshi

Background

Dieulafoy’s lesion (DL) is a rare vascular abnormality characterized by an abnormally large submucosal artery that can cause life-threatening gastrointestinal bleeding. While the stomach is the most common site, duodenal involvement is uncommon and frequently overlooked.

Case presentation

We report two Ethiopian patients presenting with acute gastrointestinal bleeding due to duodenal Dieulafoy’s lesion. The first was a 42-year-old woman with hematemesis, melena, epigastric discomfort, and anemia, whose initial esophagogastroduodenoscopy (EGD) at another center was unremarkable. The second was a 42-year-old man with worsening melena, epigastric discomfort, fatigue, and anemia. In both patients, repeat EGD revealed actively bleeding vascular lesions in the duodenum. Hemostasis was successfully achieved using adrenaline injection and/or hemoclip application. Both patients received blood transfusions, proton pump inhibitors, and supportive care, and were discharged with normalized hemoglobin at two-week follow-up.

Conclusion

Dieulafoy lesions are rare but significant causes of massive gastrointestinal bleeding, which often pose diagnostic challenge due to their subtle endoscopic appearance. High clinical suspicion in cases of unexplained hematemesis or melena, along with prompt endoscopic intervention, can achieve effective hemostasis and prevent life-threatening complications.
背景:diulafoy病变(DL)是一种罕见的血管异常,其特征是异常大的粘膜下动脉,可引起危及生命的胃肠道出血。虽然胃是最常见的部位,但累及十二指肠并不常见,而且经常被忽视。病例报告:我们报告了两例埃塞俄比亚患者因十二指肠溃疡病变而出现急性胃肠道出血。第一位患者是一名42岁的女性,有呕血、黑黑、上腹不适和贫血,她在另一个中心的初始食管胃十二指肠镜检查(EGD)无明显异常。第二例患者为一名42岁男性,伴有黑黑、上腹部不适、疲劳和贫血。在这两例患者中,重复EGD显示十二指肠血管病变出血活跃。使用肾上腺素注射和/或止血夹成功止血。两名患者均接受输血、质子泵抑制剂和支持治疗,两周随访时血红蛋白正常化出院。结论十二指肠溃疡病变是一种罕见的消化道大出血的重要原因,由于其在内镜下的细微表现,常常给诊断带来挑战。对于不明原因的呕血或黑黑,临床高度怀疑,及时内镜干预,可实现有效止血,防止危及生命的并发症。
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引用次数: 0
The clinical spectrum of Grange syndrome: A case report of a novel variant and literature review 格兰奇综合征的临床谱:一个新变异的病例报告和文献复习
Pub Date : 2026-01-14 DOI: 10.1016/j.hmedic.2026.100415
Abdulrahman Alsadiqi , Alaa Bamahmud , Lina Altaf , Iman Abumansour , Ibrahim Alsheikh , Zergham Zia , Majed Ashour , Ghouth Waggass , Hebah Qashqari
Grange syndrome (OMIM: 602531) is an ultra-rare disorder characterized by multiple steno-occlusive disease of the renal, abdominal, coronary, and cerebral arteries. Our report describes the first family with confirmed Grange syndrome from Saudi Arabia and expands the spectrum of its clinical and radiological phenotype. We present three siblings with Grange syndrome caused by a novel biallelic frameshift variant of YY1AP1, who demonstrate a variable phenotype. We report two asymptomatic cases, with a prospective observation, and recommend initiating clinical surveillance for asymptomatic individuals. Finally, we highlight the importance of genetic testing as part of stroke workup in children and young adults.
Grange综合征(OMIM: 602531)是一种极其罕见的疾病,以肾、腹、冠状动脉和脑动脉的多发性狭窄闭塞性疾病为特征。我们的报告描述了沙特阿拉伯确诊的第一个格兰奇综合征家庭,并扩展了其临床和放射学表型的谱。我们报告了三个兄弟姐妹,他们患有由YY1AP1的一种新的双等位基因移码变异引起的Grange综合征,他们表现出一种可变的表型。我们报告两例无症状病例,前瞻性观察,并建议对无症状个体开始临床监测。最后,我们强调基因检测作为儿童和年轻人中风检查的一部分的重要性。
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引用次数: 0
Severe limb malformations in a WDR37-related disorder: A report of a rare case wdr37相关疾病的严重肢体畸形:罕见病例报告
Pub Date : 2025-12-21 DOI: 10.1016/j.hmedic.2025.100414
Mayar M. Karaki , Shadi A. Abu Isneina , Masa A. Zghyer , Seema A. Ghaith , Dania N. Dawadi , Rawan H. Alhroub
WDR37-related disorders are rare multisystem conditions primarily involving the brain, eyes, and heart, with skeletal features such as limb or spine defects having been rarely reported. Here, we present a 4-month-old male infant of Arab ethnicity with a new heterozygous variant in WDR37 (c.8 C>G, p.Thr3Arg) exhibiting severe skeletal malformations, including left upper-limb amelia, right radial aplasia with wrist drop, a split foot, a rocker-bottom foot, cervical and thoracic hemivertebrae with kyphoscoliosis, and a syrinx. Brain imaging also showed ventriculomegaly and dysgenesis of the corpus callosum; he additionally had distinctive facial features and congenital heart defects. Whole-exome sequencing revealed additional variants of uncertain significance in ARF3 and ANKRD17, raising the possibility of an oligogenic effect. The infant's presentation significantly broadens the WDR37 phenotype to include dramatic limb and spinal malformations and highlights the gene as a potential cause of complex skeletal disorders, warranting deeper study of oligogenic roles.
wdr37相关疾病是罕见的多系统疾病,主要涉及大脑、眼睛和心脏,骨骼特征如肢体或脊柱缺陷很少报道。在这里,我们报告了一个4个月大的阿拉伯族男婴,其WDR37基因有一个新的杂合变异(c.8 C>;G, p.Thr3Arg),表现出严重的骨骼畸形,包括左上肢无肢症,右桡骨发育不全伴手腕下垂,裂足,摇脚型足,颈胸半椎体伴后凸脊柱侧凸,以及鼻管。脑成像还显示脑室肿大和胼胝体发育不良;此外,他还有独特的面部特征和先天性心脏缺陷。全外显子组测序揭示了ARF3和ANKRD17中不确定意义的其他变体,提高了寡生效应的可能性。婴儿的表现显著拓宽了WDR37表型,包括戏剧性的肢体和脊柱畸形,并强调该基因是复杂骨骼疾病的潜在原因,需要对寡基因作用进行更深入的研究。
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引用次数: 0
Late diagnosis of Loeys-Dietz syndrome in a cystic fibrosis patient: A case report 囊性纤维化患者Loeys-Dietz综合征的晚期诊断:1例报告
Pub Date : 2025-12-17 DOI: 10.1016/j.hmedic.2025.100413
M. Lorenz , M. Pavlova , H.J. Mentzel , A. Moeser

Background

Cystic fibrosis (CF) already entails high treatment burden. Co-occurrence with connective-tissue aortopathy is exceptionally rare.

Case

We report a 23-year-old woman with CF due to CFTR c.1521_1523delCTT (p.Phe508del) apparent homozygosity. She underwent multiple orthopedic procedures from childhood. On transfer to our CF center, dysmorphic features (bifid uvula, hypertelorism) prompted genetic evaluation and a diagnosis of Loeys–Dietz syndrome (LDS) due to a heterozygous TGFBR2 [Exon 8,c.1678G > C, p.(Ala560pro), heterozygot] pathogenic variant. Imaging showed a 48 mm aortic root (≈ + 6 z). Valve-sparing aortic root repair (David procedure) was performed with good postoperative recovery under ongoing CFTR-modulator therapy (elexacaftor/tezacaftor/ivacaftor).

Lessons learned

In CF patients with disproportionate musculoskeletal or craniofacial findings, consider syndromic aortopathy and pursue genetics early. Timely LDS recognition enables elective aortic repair at smaller diameters and may prevent dissection.

Conclusion

This case underscores the value of cross-disciplinary screening for dual genetic diagnoses to optimize outcomes in complex phenotypes.
囊性纤维化(CF)已经带来了很高的治疗负担。与结缔组织主动脉病变同时发生极为罕见。我们报告一例23岁女性CF患者,CFTR c.1521_1523delCTT (p.Phe508del)明显纯合子。她从小就接受过多次整形手术。在转移到我们的CF中心后,畸形特征(小舌裂,远视)促使遗传评估和诊断为Loeys-Dietz综合征(LDS),原因是TGFBR2杂合[外显子8,c]。[8] [g >; C, p.(Ala560pro),杂合子]致病变异。影像学显示主动脉根48 mm(≈+ 6 z)。在持续的cftr调节剂治疗(elexacaftor/tezacaftor/ivacaftor)下,进行了保留瓣膜的主动脉根部修复(David手术),术后恢复良好。对于有不成比例的肌肉骨骼或颅面表现的CF患者,应考虑综合征性主动脉病变并尽早进行遗传学检查。及时识别LDS可以在较小直径处进行选择性主动脉修复,并可能防止夹层。结论该病例强调了跨学科筛查双基因诊断对优化复杂表型预后的价值。
{"title":"Late diagnosis of Loeys-Dietz syndrome in a cystic fibrosis patient: A case report","authors":"M. Lorenz ,&nbsp;M. Pavlova ,&nbsp;H.J. Mentzel ,&nbsp;A. Moeser","doi":"10.1016/j.hmedic.2025.100413","DOIUrl":"10.1016/j.hmedic.2025.100413","url":null,"abstract":"<div><h3>Background</h3><div>Cystic fibrosis (CF) already entails high treatment burden. Co-occurrence with connective-tissue aortopathy is exceptionally rare.</div></div><div><h3>Case</h3><div>We report a 23-year-old woman with CF due to <em>CFTR</em> c.1521_1523delCTT (p.Phe508del) apparent homozygosity. She underwent multiple orthopedic procedures from childhood. On transfer to our CF center, dysmorphic features (bifid uvula, hypertelorism) prompted genetic evaluation and a diagnosis of Loeys–Dietz syndrome (LDS) due to a heterozygous <em>TGFBR2</em> [Exon 8,c.1678G &gt; C, p.(Ala560pro), heterozygot] pathogenic variant. Imaging showed a 48 mm aortic root (≈ + 6 z). Valve-sparing aortic root repair (David procedure) was performed with good postoperative recovery under ongoing CFTR-modulator therapy (elexacaftor/tezacaftor/ivacaftor).</div></div><div><h3>Lessons learned</h3><div>In CF patients with disproportionate musculoskeletal or craniofacial findings, consider syndromic aortopathy and pursue genetics early. Timely LDS recognition enables elective aortic repair at smaller diameters and may prevent dissection.</div></div><div><h3>Conclusion</h3><div>This case underscores the value of cross-disciplinary screening for dual genetic diagnoses to optimize outcomes in complex phenotypes.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100413"},"PeriodicalIF":0.0,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unusual presentation of thrombotic microangiopathy in a young adult 年轻成人血栓性微血管病的不寻常表现
Pub Date : 2025-12-17 DOI: 10.1016/j.hmedic.2025.100411
Aaron Bertolo , Denis Ruzdija , Muhammad Fawad Ashraf , Haind Fadel , Ahmad Iftikhar
Thrombotic Microangiopathy (TMA) is a complex disorder encompassing various acquired and hereditary causes. In this case report, we delve into the atypical presentation of TMA in a 21-year-old patient, characterized by a distinctive lack of systemic findings (e.g., thrombocytopenia and microangiopathic hemolytic anemia) typically associated with the condition. An extensive investigation ruled out common etiologies, including ADAMTS13 deficiency (ruling out TTP), Shiga-toxin mediated HUS, and other secondary causes such as drug/immune-related factors, toxins, and systemic complement dysregulation (aHUS). A comprehensive genetic panel for complement mutations was negative. The patient's medical history did not align with prior COVID-19 infection, eliminating a potential causative link. The patient's lack of hypertension history raised a perplexing question: did renal disease precede hypertension or vice versa? Renal biopsy revealed characteristic features of TMA with mesangial deposits, hinting at a potential underlying genetic cause. However, common hereditary culprits, such as complement factor H mutations or Cobalamin C abnormalities, were ruled out through meticulous clinical, serological, and genetic evaluation.
血栓性微血管病(TMA)是一种复杂的疾病,包括各种获得性和遗传性原因。在本病例报告中,我们深入研究了一位21岁TMA患者的非典型表现,其特征是明显缺乏与该疾病典型相关的全身表现(例如血小板减少症和微血管病性溶血性贫血)。广泛的调查排除了常见的病因,包括ADAMTS13缺乏(排除TTP),志贺毒素介导的溶血性尿毒综合征,以及其他继发性原因,如药物/免疫相关因素,毒素和全身补体失调(aHUS)。补体突变的综合基因检测结果为阴性。患者的病史与先前的COVID-19感染不一致,从而消除了潜在的致病联系。患者没有高血压病史,这引发了一个令人困惑的问题:是肾脏疾病先于高血压,还是相反?肾活检显示TMA伴肾小球系膜沉积的特征性特征,提示潜在的遗传原因。然而,通过细致的临床、血清学和遗传评估,排除了常见的遗传罪魁祸首,如补体因子H突变或钴胺素C异常。
{"title":"Unusual presentation of thrombotic microangiopathy in a young adult","authors":"Aaron Bertolo ,&nbsp;Denis Ruzdija ,&nbsp;Muhammad Fawad Ashraf ,&nbsp;Haind Fadel ,&nbsp;Ahmad Iftikhar","doi":"10.1016/j.hmedic.2025.100411","DOIUrl":"10.1016/j.hmedic.2025.100411","url":null,"abstract":"<div><div>Thrombotic Microangiopathy (TMA) is a complex disorder encompassing various acquired and hereditary causes. In this case report, we delve into the atypical presentation of TMA in a 21-year-old patient, characterized by a distinctive lack of systemic findings (e.g., thrombocytopenia and microangiopathic hemolytic anemia) typically associated with the condition. An extensive investigation ruled out common etiologies, including ADAMTS13 deficiency (ruling out TTP), Shiga-toxin mediated HUS, and other secondary causes such as drug/immune-related factors, toxins, and systemic complement dysregulation (aHUS). A comprehensive genetic panel for complement mutations was negative. The patient's medical history did not align with prior COVID-19 infection, eliminating a potential causative link. The patient's lack of hypertension history raised a perplexing question: did renal disease precede hypertension or vice versa? Renal biopsy revealed characteristic features of TMA with mesangial deposits, hinting at a potential underlying genetic cause. However, common hereditary culprits, such as complement factor H mutations or Cobalamin C abnormalities, were ruled out through meticulous clinical, serological, and genetic evaluation.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100411"},"PeriodicalIF":0.0,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Successful tolerance of a third-generation tyrosine kinase inhibitor after alectinib-induced lung injury: A case report 第三代酪氨酸激酶抑制剂在阿勒替尼诱导的肺损伤后成功耐受:1例报告
Pub Date : 2025-12-06 DOI: 10.1016/j.hmedic.2025.100412
Michel Al Achkar, Chloe Lahoud, Rabindra Dhakal, Scott Vaughan
Targeted therapies, particularly anaplastic lymphoma kinase tyrosine kinase inhibitors (ALK-TKIs), have revolutionized the treatment of ALK-positive non-small cell lung cancer (NSCLC). Lung cancer represents the third most commonly diagnosed malignancy in the United States in 2024.ALK inhibitors, including the first-generation ALK tyrosine kinase inhibitor (ALK-TKI) crizotinib, the second-generation ALK-TKI alectinib, and the third-generation ALK-TKI lorlatinib, have demonstrated remarkable efficacy in treating ALK-positive non small-cell lung cancer. We present a case of a 46-year-old African American patient who developed grade 3 pneumonitis after initiating alectinib treatment. Following discontinuation of alectinib and treatment of the pneumonitis, the patient was successfully transitioned to lorlatinib, which was well-tolerated without recurrence of pneumonitis or other adverse events.
靶向治疗,特别是间变性淋巴瘤激酶酪氨酸激酶抑制剂(ALK-TKIs),已经彻底改变了alk阳性非小细胞肺癌(NSCLC)的治疗。肺癌是2024年美国第三大最常诊断的恶性肿瘤。ALK抑制剂,包括第一代ALK酪氨酸激酶抑制剂(ALK- tki)克唑替尼、第二代ALK- tki alectinib和第三代ALK- tki lorlatinib,在治疗ALK阳性非小细胞肺癌中表现出显著的疗效。我们提出了一例46岁的非裔美国患者谁开始阿勒替尼治疗后发展为3级肺炎。在停用阿勒替尼和治疗肺炎后,患者成功过渡到氯拉替尼,该药耐受性良好,无肺炎复发或其他不良事件。
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引用次数: 0
Stroke as the initial presentation of Takayasu’s arteritis in a 10-year-old girl: A case report 以中风为首发表现的10岁女童高松动脉炎1例报告
Pub Date : 2025-12-06 DOI: 10.1016/j.hmedic.2025.100409
Filimon Getaneh Assefa , Suleiman Ayalew Belay , Belachew Wolellaw Bezie , Kedir Workye Muhamed , Bewketu Tadese Baines , Ayalsew Zerihun Damessa , Biniyam Mequanent Sileshi , Alazar Amlaku Teshager
Takayasu arteritis (TA) is a chronic, idiopathic, granulomatous large-vessel vasculitis that primarily affects the aorta and its major branches, representing a significant cause of vascular morbidity in children and young adults. Stroke is an uncommon but recognized complication of TA and may occasionally be the presenting feature. Crossed aphasia in a dextral (right-handed) patient, aphasia resulting from a right-hemisphere lesion, is particularly rare. We report the case of a 10-year-old right-handed girl who presented with sudden-onset expressive language disturbance and left-sided weakness. Physical examination revealed a discrepancy in upper-limb pulse and blood pressure, bilateral carotid bruits, and left-sided hemiparesis. Brain CT demonstrated a right middle cerebral artery (MCA) territory infarct, while vascular imaging showed marked bilateral common carotid artery wall thickening with severe luminal narrowing and an intraluminal thrombus on the right. Inflammatory markers were elevated. The patient met the ACR/EULAR classification criteria for Takayasu arteritis and was categorized as Numano type I. She received antithrombotic therapy and high-dose oral corticosteroids. At two-month follow-up, there was partial recovery of language but persistent left-sided weakness.
高松动脉炎(Takayasu arteritis, TA)是一种慢性、特发性、肉芽肿性大血管炎,主要影响主动脉及其主要分支,是儿童和年轻人血管发病率的重要原因。中风是一种罕见但公认的TA并发症,偶尔也可能是TA的主要表现。在右撇子(右撇子)患者中,由右半球病变引起的交叉失语症尤其罕见。我们报告一个10岁的右撇子女孩,她表现出突发性的表达性语言障碍和左侧虚弱。体格检查显示上肢脉搏和血压差异,双侧颈动脉损伤,左侧偏瘫。脑CT显示右侧大脑中动脉(MCA)区域梗死,血管成像显示双侧颈总动脉壁明显增厚,伴严重管腔狭窄和右侧管腔内血栓。炎症标志物升高。患者符合高松动脉炎的ACR/EULAR分类标准,并被归类为Numano i型。她接受了抗血栓治疗和大剂量口服皮质类固醇。在两个月的随访中,语言部分恢复,但左侧持续虚弱。
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引用次数: 0
TB or not to be: A case of atypical gastrointestinal tuberculosis mimicking Crohn’s disease – A case report 结核还是不结核:模拟克罗恩病的非典型胃肠道结核1例- 1例报告
Pub Date : 2025-12-05 DOI: 10.1016/j.hmedic.2025.100410
Demver P. Gomez, Wilmyr F. Hababag

Background

Gastrointestinal tuberculosis (GI TB) is a rare form of extrapulmonary TB that often mimics Crohn’s disease (CD) due to overlapping clinical, endoscopic, and histopathologic features. We present a case of GI TB that initially manifested as a perianal fistula, an atypical presentation for TB but commonly seen in CD. Familiarity with this presentation is essential to ensure timely diagnosis and appropriate management, particularly in TB endemic regions.

Case summary

A 38-year-old male from the Philippines presented with a 4-year history of chronic perianal fistula and recurrent rectal pain, initially diagnosed as CD based on findings from three colonoscopies and biopsies showing non-caseating granulomas. MTB GeneXpert and mycobacterial cultures were consistently negative. He was treated with antibiotics, corticosteroids, and biologic therapy, but showed no clinical improvement. One month later, he returned with persistent symptoms and sudden onset jaundice, accompanied by marked elevation of liver enzymes. Imaging revealed hepatosplenomegaly, hepatic nodules, and lymphadenopathy. A fourth colonoscopy with biopsy demonstrated caseating granulomas and Langhans giant cells, confirming tuberculous ileitis. Anti-tuberculosis therapy was initiated, resulting in significant clinical and biochemical improvement, including normalization of liver enzymes and closure of the perianal fistulas.

Conclusion

This case highlights the diagnostic challenge of distinguishing GI TB from Crohn’s disease in TB endemic regions. A high index of suspicion for TB must be maintained before initiating biologic therapy. Histopathologic confirmation and careful clinical correlation are essential for accurate diagnosis and appropriate treatment.
背景胃肠道结核(GI TB)是一种罕见的肺外结核,由于临床、内镜和组织病理学特征重叠,通常与克罗恩病(CD)相似。我们报告一例胃肠道结核,最初表现为肛周瘘,这是结核病的一种非典型表现,但在乳糜泻中很常见。熟悉这种表现对于确保及时诊断和适当管理至关重要,特别是在结核病流行地区。病例摘要:一名来自菲律宾的38岁男性,有4年的慢性肛周瘘和复发性直肠疼痛病史,根据三次结肠镜检查和活检显示非干酪化肉芽肿,最初诊断为乳糜泻。MTB GeneXpert和分枝杆菌培养均为阴性。他接受了抗生素、皮质类固醇和生物治疗,但没有临床改善。1个月后,患者以持续症状和突发性黄疸返回,并伴有肝酶明显升高。影像学显示肝脾肿大、肝结节及淋巴结病变。第四次结肠镜活检显示干酪样肉芽肿和朗汉斯巨细胞,确认结核性回肠炎。开始抗结核治疗,临床和生化均有显著改善,包括肝酶恢复正常,肛周瘘管闭合。结论本病例强调了在结核病流行地区区分胃肠道结核与克罗恩病的诊断挑战。在开始生物治疗之前,必须保持对结核病的高度怀疑。组织病理学确认和仔细的临床联系是准确诊断和适当治疗的必要条件。
{"title":"TB or not to be: A case of atypical gastrointestinal tuberculosis mimicking Crohn’s disease – A case report","authors":"Demver P. Gomez,&nbsp;Wilmyr F. Hababag","doi":"10.1016/j.hmedic.2025.100410","DOIUrl":"10.1016/j.hmedic.2025.100410","url":null,"abstract":"<div><h3>Background</h3><div>Gastrointestinal tuberculosis (GI TB) is a rare form of extrapulmonary TB that often mimics Crohn’s disease (CD) due to overlapping clinical, endoscopic, and histopathologic features. We present a case of GI TB that initially manifested as a perianal fistula, an atypical presentation for TB but commonly seen in CD. Familiarity with this presentation is essential to ensure timely diagnosis and appropriate management, particularly in TB endemic regions.</div></div><div><h3>Case summary</h3><div>A 38-year-old male from the Philippines presented with a 4-year history of chronic perianal fistula and recurrent rectal pain, initially diagnosed as CD based on findings from three colonoscopies and biopsies showing non-caseating granulomas. MTB GeneXpert and mycobacterial cultures were consistently negative. He was treated with antibiotics, corticosteroids, and biologic therapy, but showed no clinical improvement. One month later, he returned with persistent symptoms and sudden onset jaundice, accompanied by marked elevation of liver enzymes. Imaging revealed hepatosplenomegaly, hepatic nodules, and lymphadenopathy. A fourth colonoscopy with biopsy demonstrated caseating granulomas and Langhans giant cells, confirming tuberculous ileitis. Anti-tuberculosis therapy was initiated, resulting in significant clinical and biochemical improvement, including normalization of liver enzymes and closure of the perianal fistulas.</div></div><div><h3>Conclusion</h3><div>This case highlights the diagnostic challenge of distinguishing GI TB from Crohn’s disease in TB endemic regions. A high index of suspicion for TB must be maintained before initiating biologic therapy. Histopathologic confirmation and careful clinical correlation are essential for accurate diagnosis and appropriate treatment.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100410"},"PeriodicalIF":0.0,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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