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Acute hepatitis A and E virus dual infection in a beta thalassemia major child complicated with hypocalcemia and secondary hyperparathyroidism: A case report 急性甲型和戊型肝炎病毒双重感染合并低钙血症和继发性甲状旁腺功能亢进1例

Medical Reports

Pub Date : 2025-07-30 DOI: 10.1016/j.hmedic.2025.100331

Ayesha Mukhtar Rathore, Junaid Saleem, Inzimam ul Haq

Hepatitis A (HAV) and E (HEV) dual infection, though rare and self-limiting, can lead to acute liver failure, particularly in high-risk patients such as those with beta-thalassemia major. This case report presents a 16-year-old male with beta-thalassemia major and no prior liver disease who presented to the outpatient department with a week's history of low-grade fever, jaundice, and dyspnea. Upon thorough investigation, dual-infection with hepatitis A and hepatitis E virus was found complicated by hypocalcemia (Ca = 4 mg/dl) and secondary hyperparathyroidism (PTH = 80 pg/dl). The diagnosis was confirmed through serology and laboratory findings, including elevated liver enzymes, low serum calcium, and high parathyroid hormone levels. He received aggressive supportive management, including intravenous hydration, syrup Hepa Merz (L-Ornithine, L-Aspartate) twice daily for seven days, folic acid supplementation for beta thalassemia, paracetamol for symptom relief, and intravenous calcium twice infusion over the span of seven days, leading to full recovery and discharge on oral calcium supplements. This case highlights the potential severity of HAV/HEV dual infection in thalassemia patients, emphasizing the need for prompt diagnosis, electrolyte monitoring, and aggressive supportive care. Additionally, it underscores the importance of preventive strategies, including HAV vaccination, improved hygiene, safe water and food practices and awareness and education. The report contributes to the limited literature on metabolic complications (hypocalcemia, secondary hyperparathyroidism) in such dual infections and reinforces the necessity of early intervention in high-risk populations. It also highlights the necessity of more research on the complications of dual infection with HAV and HEV in a beta-thalassemia major patient.

甲型肝炎（HAV）和戊型肝炎（HEV）双重感染虽然罕见且具有自限性，但可导致急性肝衰竭，特别是在乙型地中海贫血等高危患者中。本病例报告提出一名16岁男性，患有严重-地中海贫血，既往无肝脏疾病，以一周的低烧、黄疸和呼吸困难病史就诊于门诊。经过彻底的调查，发现A型肝炎和E型肝炎病毒双重感染并发低钙血症（Ca = 4 mg/dl）和继发性甲状旁腺功能亢进（PTH = 80 pg/dl）。通过血清学和实验室检查，包括肝酶升高、低血钙和高甲状旁腺激素水平，确诊。患者接受积极的支持性治疗，包括静脉补水，每日2次糖浆Hepa Merz （l -鸟氨酸，l -天冬氨酸），连续7天，补充叶酸治疗β地中海贫血，对乙酰氨基酚缓解症状，静脉补钙2次，连续7天，口服补钙使患者完全康复出院。该病例强调了地中海贫血患者HAV/HEV双重感染的潜在严重性，强调了及时诊断、电解质监测和积极支持治疗的必要性。此外，它强调了预防战略的重要性，包括甲肝疫苗接种、改善卫生、安全饮水和食品习惯以及提高认识和教育。该报告补充了关于此类双重感染的代谢并发症（低钙血症、继发性甲状旁腺功能亢进）的有限文献，并强调了在高危人群中早期干预的必要性。它还强调了对乙型地中海贫血重症患者甲肝病毒和戊肝病毒双重感染并发症进行更多研究的必要性。

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引用次数: 0

Copper-beaten skull: A case report 铜制头骨：一份病例报告

Medical Reports

Pub Date : 2025-07-30 DOI: 10.1016/j.hmedic.2025.100335

Imad Akasbi , Amal Akammar , Hajar Ouazzani Chahdi , Ismail Chaouche , Nizar El Bouardi , Badr Alami , MY Youssef Alaoui Lamrani , Mustapha Maaroufi , Meryem Boubbou

The copper-beaten skull is a radiological finding often associated with elevated intracranial pressure (ICP) and craniosynostosis. It presents as convolutional markings resembling a hammered copper surface on imaging, particularly in children. We report the case of a 1-month-old male diagnosed with a copper-beaten skull, correlating clinical findings with imaging features, and provide a comprehensive literature review to highlight diagnostic and prognostic considerations. Early recognition and intervention are critical to preventing long-term complications such as cognitive impairment or visual loss.

铜打头骨是一种影像学发现，通常与颅内压升高（ICP）和颅缝闭锁有关。在成像上表现为类似锤打铜表面的卷积标记，特别是在儿童中。我们报告一例1个月大的男性被诊断为铜打头骨，将临床表现与影像学特征联系起来，并提供全面的文献回顾，以突出诊断和预后考虑因素。早期识别和干预对于预防认知障碍或视力丧失等长期并发症至关重要。

引用次数: 0

Hurler syndrome: Oral and radiographic findings of a rare clinical case 赫勒综合征：一罕见临床病例的口腔及影像学表现

Medical Reports

Pub Date : 2025-07-28 DOI: 10.1016/j.hmedic.2025.100325

W. Kabbassi, H. Hessissen, J. Hammouti

Hurler syndrome (HS) is a rare disorder which belongs to the category of mucopolysaccharidosis (MPS) caused due to inherited deficiencies of lysosomal α-L-iduronidase activity. Individuals with HS share specific facial features with several oral manifestations. We present through this article a case of a 15-year-old girl that was referred to the pediatric dentistry department at the center of dental consultation and treatment of Rabat, diagnosed with Hurler- syndrome with numerous oral manifestations.

Hurler综合征（HS）是一种罕见的粘多糖病（MPS），是由遗传性溶酶体α- l -伊杜糖醛酸酶活性不足引起的。HS患者具有特定的面部特征和几种口腔表现。我们通过这篇文章介绍了一个15岁的女孩，她被转介到拉巴特牙科咨询和治疗中心的儿科牙科部门，被诊断为有许多口腔表现的赫勒综合征。

引用次数: 0

The unseen majority: Characterizing seronegative MOGAD beyond traditional diagnostic criteria 看不见的大多数：血清MOGAD阴性的特征超出了传统的诊断标准

Medical Reports

Pub Date : 2025-07-26 DOI: 10.1016/j.hmedic.2025.100321

BD Charan , Vinod Chaudhary , Preeti Joon

Myelin oligodendrocyte glycoprotein antibody- associated disease (MOGAD) presents with optic neuritis, transverse myelitis, acute encephalitis or acute disseminated encephalomyelitis (ADEM). Less commonly it may manifest as aseptic meningitis, seizures and fever of unknown origin. We describe a paediatric case of seronegative MOGAD with an unusual clinical and neuroimaging profile. Despite negative serum MOG antibody testing, the patient exhibited features consistent with MOGAD and showed response to pulse methylprednisolone, expanding the known phenotypic spectrum of the disease. Recent studies have reported patients with CSF MOG-IgG but without detectable serum MOG-IgG challenging existing diagnostic criteria and need for further research on utility of CSF MOG antibody testing.

髓鞘少突胶质细胞糖蛋白抗体相关疾病（MOGAD）表现为视神经炎、横断性脊髓炎、急性脑炎或急性播散性脑脊髓炎（ADEM）。不太常见的表现为无菌性脑膜炎、癫痫发作和不明原因的发热。我们描述了一个小儿病例血清阴性MOGAD与一个不寻常的临床和神经影像学档案。尽管血清MOG抗体检测呈阴性，但患者表现出与MOGAD一致的特征，并对脉冲甲基强的松龙有反应，扩大了该疾病的已知表型谱。最近的研究报道了CSF MOG- igg患者，但血清中检测不到MOG- igg，这对现有的诊断标准提出了挑战，需要进一步研究CSF MOG抗体检测的实用性。

引用次数: 0

A rare case of fibro-thecoma mimicking ovarian malignancy: Diagnostic challenges and surgical management 一例罕见的纤维瘤模拟卵巢恶性肿瘤：诊断挑战和手术处理

Medical Reports

Pub Date : 2025-07-26 DOI: 10.1016/j.hmedic.2025.100327

Hafsa Taheri , Oussama lamzouri , Youssef Aloua , Hanane Saadi , Ahmed Mimouni

A 78-year-old woman presented with chronic pelvic pain, abdominal distension, and a mobile mass suggestive of ovarian malignancy. Imaging studies, including MRI, revealed a malignant-appearing ovarian mass with abundant ascites, and serum CA125 levels were significantly elevated. During surgery, a total hysterectomy with bilateral anexectomy was performed due to the tumor’s malignant features. Postoperative histopathology identified the mass as a fibro-thecoma, a rare benign ovarian tumor often misdiagnosed as malignant. The surgical intervention was curative, and no adjuvant therapy was required. This case underscores the diagnostic challenges associated with fibro-thecoma, emphasizing the importance of preoperative evaluation, intraoperative assessment, and the role of radical surgery in achieving optimal outcomes. It also highlights the need for distinguishing Demons-Meigs syndrome from advanced ovarian malignancies.

一位78岁的女性表现为慢性盆腔疼痛，腹胀和一个提示卵巢恶性肿瘤的移动肿块。影像学检查，包括MRI，显示卵巢恶性肿块伴大量腹水，血清CA125水平显著升高。在手术中，由于肿瘤的恶性特征，我们进行了全子宫切除和双侧切除。术后组织病理检查发现肿块为纤维鞘瘤，一种罕见的良性卵巢肿瘤，常被误诊为恶性肿瘤。手术治疗治愈，不需要辅助治疗。本病例强调了与纤维鞘瘤相关的诊断挑战，强调了术前评估、术中评估的重要性，以及根治性手术在达到最佳结果中的作用。它还强调了将demon - meigs综合征与晚期卵巢恶性肿瘤区分开来的必要性。

引用次数: 0

Beyond aneurysms, subarachnoid hemorrhage unraveling dural venous sinus thrombosis: A rare case report 除动脉瘤外，蛛网膜下腔出血引发硬脑膜静脉窦血栓：一罕见病例报告

Medical Reports

Pub Date : 2025-07-25 DOI: 10.1016/j.hmedic.2025.100330

Muhammad Osama , Abdullah Abdullah , Muhammad Noman , Hafsa Khan , Aishah Binte Nawaz , Shahzaib Ahmed , Farhan Shahzad

Background

Dural venous sinus thrombosis (DVST) can be challenging for clinicians, especially when presenting with subarachnoid hemorrhage (SAH)-like symptoms. DVST presents with headache, vision loss, paralysis, and seizures.

Case presentation

We report a case of a 22-year-old male with left-sided weakness, severe headache, and loss of consciousness. Examination revealed left-sided weakness and optic disc blurring. Lumbar puncture showed numerous RBCs. MRI brain with Magnetic Resonance Venography (MRV) revealed “left transverse and sigmoid venous sinus thrombosis and minimal subarachnoid hemorrhage.” A diagnosis of SAH secondary to DVST was made. The patient was treated with Apixaban, resulting in the resolution of DVST and SAH.

Discussion

Dural venous sinus thrombosis (DVST) can pose a diagnostic challenge when it mimics subarachnoid hemorrhage (SAH), presenting with symptoms such as headache, blurred vision, stroke-like features, and seizures. The diagnostic workup includes blood tests, lumbar puncture, and Neuroimaging modalities such as Computed Tomography (CT)/ Computed Tomography Venography (CTV), Magnetic Resonance Imaging (MRI)/ Magnetic Resonance Venography (MRV), Cerebral Angiography, and Digital Subtraction Angiography (DSA). The management strategy for DVST includes supportive management, anticoagulant therapy, and endovascular thrombolysis. The same approach was followed in our case.

Conclusion

This case highlights the need for early recognition of DVST in SAH patients lacking aneurysmal components or basal cistern involvement and its management with anticoagulation if hemodynamically stable.

硬膜静脉窦血栓形成（DVST）对临床医生来说是一个挑战，特别是当出现蛛网膜下腔出血（SAH）样症状时。DVST表现为头痛、视力丧失、麻痹和癫痫发作。我们报告一位22岁男性病患，表现为左侧无力、严重头痛及意识丧失。检查显示左侧虚弱和视盘模糊。腰椎穿刺显示大量红细胞。脑核磁共振静脉造影（MRV）显示“左侧横静脉窦及乙状静脉窦血栓形成及轻微蛛网膜下腔出血”。诊断为继发于DVST的SAH。患者接受阿哌沙班治疗，DVST和SAH得到缓解。当硬膜静脉窦血栓形成（DVST）与蛛网膜下腔出血（SAH）相似，表现为头痛、视力模糊、卒中样特征和癫痫发作等症状时，可能会给诊断带来挑战。诊断检查包括血液检查、腰椎穿刺和神经影像学检查，如计算机断层扫描(CT)/计算机断层扫描静脉造影（CTV）、磁共振成像(MRI)/磁共振静脉造影（MRV）、脑血管造影和数字减影血管造影（DSA）。DVST的治疗策略包括支持性治疗、抗凝治疗和血管内溶栓。在我们的案例中也采用了同样的方法。结论本病例强调，对于无动脉瘤成分或基底池受累的SAH患者，需要早期识别DVST，并在血流动力学稳定的情况下进行抗凝治疗。

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引用次数: 0

Central nervous system demyelination associated with anti-thyroid peroxidase antibodies: Insights from two cases and a literature review 与抗甲状腺过氧化物酶抗体相关的中枢神经系统脱髓鞘：来自两个病例和文献综述的见解

Medical Reports

Pub Date : 2025-07-25 DOI: 10.1016/j.hmedic.2025.100329

Arpan Mitra, Niraj Kumar Srivastava , Damini Shukla, Anand Kumar, Deepika Joshi, Vijaya Nath Mishra, Abhishek Pathak

Introduction

Central nervous system (CNS) demyelination, typically associated with autoimmune disorders like multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD), has recently been reported in association with elevated anti-thyroid peroxidase (anti-TPO) antibodies. This case report describes two patients who presented with demyelinating CNS lesions and elevated anti-TPO antibody levels, emphasizing the potential role of thyroid autoimmunity in CNS pathology.

Case report

The cases are noteworthy due to their rarity and the comprehensive exclusion of other demyelinating conditions. They add to the limited body of evidence supporting the association between anti-TPO antibodies and CNS demyelination and emphasize the importance of considering Autoimmune Thyroid Disorder (ATD) in the differential diagnosis of demyelinating disorders.

Conclusion

Further research is needed to elucidate the mechanisms by which anti-TPO antibodies might be associated with CNS demyelination. Prospective studies with larger cohorts could clarify the prevalence and significance of thyroid autoimmunity in demyelinating diseases and its potential role as a therapeutic target. These insights emphasize the importance of recognizing autoimmune thyroiditis as a potential contributor to CNS demyelination and the need for heightened awareness among clinicians when evaluating atypical demyelinating cases.

中枢神经系统（CNS）脱髓鞘，通常与自身免疫性疾病如多发性硬化症（MS）或视神经脊髓炎谱系障碍（NMOSD）相关，最近有报道称与抗甲状腺过氧化物酶（抗tpo）抗体升高相关。本病例报告描述了两例表现为中枢神经系统脱髓鞘病变和抗tpo抗体水平升高的患者，强调了甲状腺自身免疫在中枢神经系统病理中的潜在作用。病例报告这些病例值得注意，因为它们的罕见性和全面排除其他脱髓鞘条件。他们补充了有限的证据支持抗tpo抗体与中枢神经系统脱髓鞘之间的关联，并强调了在脱髓鞘疾病的鉴别诊断中考虑自身免疫性甲状腺疾病（ATD）的重要性。结论抗tpo抗体与中枢神经系统脱髓鞘相关的机制有待进一步研究。更大队列的前瞻性研究可以阐明甲状腺自身免疫在脱髓鞘疾病中的患病率和意义，以及它作为治疗靶点的潜在作用。这些见解强调了认识自身免疫性甲状腺炎作为中枢神经系统脱髓鞘的潜在贡献者的重要性，以及临床医生在评估非典型脱髓鞘病例时提高认识的必要性。

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引用次数: 0

Diagnostic confusion of COVID-19 versus plastic bronchitis in a patient with trisomy 21: A case report 21三体患者COVID-19与塑料支气管炎的诊断混淆1例

Medical Reports

Pub Date : 2025-07-24 DOI: 10.1016/j.hmedic.2025.100328

Maricruz J. Montelongo-Rodriguez , Julio C. Acuña-Castro , Antonio Muñiz-Buenrostro

Introduction

Plastic bronchitis (PB) is a rare but potentially life-threatening pulmonary disorder characterized by the formation of cohesive bronchial casts capable of obstructing airways and causing severe respiratory distress. Although it is more frequently associated with pediatric populations, particularly those with congenital heart disease, PB has been increasingly recognized in adults, often with diverse and underrecognized etiologies. Distinguishing between inflammatory (Type I) and lymphatic (Type II) cast subtypes is critical for guiding diagnosis and management. This report describes a rare case of adult-onset PB in a patient with trisomy 21, an association not previously well-documented.

Case presentation

A 30-year-old female with trisomy 21 presented with acute hypoxemia, perioral cyanosis and productive cough with expectoration of whitish bronchial casts. She had a prior history of COVID-19 pneumonia but no congenital heart disease or recurrent infections. Initial chest imaging revealed mosaic perfusion and pericardial effusion, and bronchoscopy identified whitish filamentous material partially obstructing the bronchi. Histopathological examination of the casts revealed fibrin bands with inflammatory cells, consistent with Type I inflammatory PB. The patient responded initially to corticosteroid therapy; however, symptoms recurred upon withdrawal, necessitating repeated steroid courses. Bronchoscopic removal of casts led to symptomatic improvement. No alternative infectious or structural causes were identified.

Conclusion

This case highlights the need to consider plastic bronchitis in the differential diagnosis of adults presenting with acute hypoxemic respiratory failure, particularly when clinical and imaging findings mimic COVID-19 pneumonia. It underscores the importance of combining imaging, bronchoscopy, and histopathology for diagnosis, and the therapeutic role of corticosteroids in managing inflammatory PB. To our knowledge, this is one of the first reported cases of PB in an adult with trisomy 21, expanding awareness of its occurrence beyond traditional pediatric and congenital heart disease contexts.

塑性支气管炎（PB）是一种罕见但可能危及生命的肺部疾病，其特征是形成有凝聚力的支气管铸型，能够阻塞气道并引起严重的呼吸窘迫。虽然它更常与儿科人群相关，特别是那些患有先天性心脏病的人群，但PB已越来越多地在成人中得到认可，通常具有多种且未被充分认识的病因。区分炎症型（I型）和淋巴型（II型）铸造亚型对指导诊断和治疗至关重要。本报告描述了一例罕见的21三体患者成人发病的PB，这种关联以前没有很好的文献记载。病例表现：女性，30岁，21三体，表现为急性低氧血症，口周发绀，咳咳伴白色支气管痰。既往有COVID-19肺炎病史，无先天性心脏病或复发性感染。最初的胸部影像显示马赛克灌注和心包积液，支气管镜检查发现白色丝状物质部分阻塞支气管。铸型组织病理学检查显示纤维蛋白带伴炎性细胞，符合I型炎性PB。患者最初对皮质类固醇治疗有反应；然而，停药后症状复发，需要重复类固醇疗程。支气管镜下取出铸型导致症状改善。没有发现其他传染或结构性原因。结论本病例强调了在成人急性低氧性呼吸衰竭的鉴别诊断中考虑可塑性支气管炎的必要性，特别是当临床和影像学表现与COVID-19肺炎相似时。它强调了结合影像学、支气管镜检查和组织病理学诊断的重要性，以及皮质类固醇在治疗炎症性PB中的治疗作用。据我们所知，这是21三体成人中首次报道的PB病例之一，扩大了对其发生的认识，超越了传统的儿科和先天性心脏病背景。

{"title":"Diagnostic confusion of COVID-19 versus plastic bronchitis in a patient with trisomy 21: A case report","authors":"Maricruz J. Montelongo-Rodriguez , Julio C. Acuña-Castro , Antonio Muñiz-Buenrostro","doi":"10.1016/j.hmedic.2025.100328","DOIUrl":"10.1016/j.hmedic.2025.100328","url":null,"abstract":"<div><h3>Introduction</h3><div>Plastic bronchitis (PB) is a rare but potentially life-threatening pulmonary disorder characterized by the formation of cohesive bronchial casts capable of obstructing airways and causing severe respiratory distress. Although it is more frequently associated with pediatric populations, particularly those with congenital heart disease, PB has been increasingly recognized in adults, often with diverse and underrecognized etiologies. Distinguishing between inflammatory (Type I) and lymphatic (Type II) cast subtypes is critical for guiding diagnosis and management. This report describes a rare case of adult-onset PB in a patient with trisomy 21, an association not previously well-documented.</div></div><div><h3>Case presentation</h3><div>A 30-year-old female with trisomy 21 presented with acute hypoxemia, perioral cyanosis and productive cough with expectoration of whitish bronchial casts. She had a prior history of COVID-19 pneumonia but no congenital heart disease or recurrent infections. Initial chest imaging revealed mosaic perfusion and pericardial effusion, and bronchoscopy identified whitish filamentous material partially obstructing the bronchi. Histopathological examination of the casts revealed fibrin bands with inflammatory cells, consistent with Type I inflammatory PB. The patient responded initially to corticosteroid therapy; however, symptoms recurred upon withdrawal, necessitating repeated steroid courses. Bronchoscopic removal of casts led to symptomatic improvement. No alternative infectious or structural causes were identified.</div></div><div><h3>Conclusion</h3><div>This case highlights the need to consider plastic bronchitis in the differential diagnosis of adults presenting with acute hypoxemic respiratory failure, particularly when clinical and imaging findings mimic COVID-19 pneumonia. It underscores the importance of combining imaging, bronchoscopy, and histopathology for diagnosis, and the therapeutic role of corticosteroids in managing inflammatory PB. To our knowledge, this is one of the first reported cases of PB in an adult with trisomy 21, expanding awareness of its occurrence beyond traditional pediatric and congenital heart disease contexts.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100328"},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144702506","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

Unveiling a novel AIMP2 c.157 C>T variant in a Moroccan patient with hypomyelinating leukodystrophy type 17: A case report and insights from a literature review 揭开新型AIMP2 c.157的面纱摩洛哥17型低髓鞘性脑白质营养不良患者的C >t变异：一例报告和文献回顾的见解

Medical Reports

Pub Date : 2025-07-23 DOI: 10.1016/j.hmedic.2025.100326

Amal Ouskri , Abdelhamid Bouramtane , Hinde Elmouhi , Rania Bouchikhi , Yasser Ali Elasri , Sanae Chaouki , Laila Bouguenouch , Karim Ouldim

Hypomyelinating Leukodystrophy Type 17 is a rare autosomal recessive neurodevelopmental disorder characterized by defective myelin formation and progressive neurological impairment. We report the first genetically confirmed case of HLD17 in Africa, associated with a homozygous AIMP2 (NM_006303.4): c.157 C>T [p.(Gln53Ter)] nonsense mutation. This variant is predicted to result in a truncated protein, likely impairing the function of the multi-tRNA synthetase complex. A review of the literature was conducted using PubMed, ScienceDirect, and the Cochrane Library, retrieving two articles reporting four cases of HLD17. The clinical phenotype of HLD17 shows a consistent set of features in all genetically confirmed cases (6/6), including absent speech, severe global developmental delay, microcephaly, and growth impairment. Feeding difficulties, inability to walk, intellectual disability, and seizures were reported in all evaluable cases (5/5). Spasticity was seen in 5 of 6 cases. Less common findings include kyphoscoliosis (3/5), hirsutism (3/3), hyperreflexia (3/3), and flexion contractures (2/4). Craniofacial anomalies such as anteverted nares and mandibular prognathia are rare, reported in only 1 of 3 or 4 cases, respectively. The disorder typically begins in infancy. Neurophysiological and neuroimaging abnormalities, such as cerebral and cerebellar atrophy, suggest visual pathway involvement and a progressive neurodegenerative course. All reported HLD17 cases carry biallelic pathogenic nonsense AIMP2 variants predicted to cause loss of function; frameshift, splice site, and missense variants have not been reported in affected patients in the literature. This study contributes new insights into the clinical, neuroimaging, and genetic features of HLD17 for accurate diagnosis and better management.

17型低髓鞘性脑白质营养不良是一种罕见的常染色体隐性神经发育障碍，其特征是髓鞘形成缺陷和进行性神经损伤。我们报告了非洲首例遗传证实的HLD17病例，该病例与纯合子AIMP2 （NM_006303.4）相关：c.157 C>T [p.(Gln53Ter)]无义突变。这种变异被预测会导致一个截断的蛋白质，可能会损害多trna合成酶复合物的功能。使用PubMed、ScienceDirect和Cochrane图书馆对文献进行了回顾，检索了两篇报告4例HLD17病例的文章。HLD17的临床表型在所有遗传确诊病例中显示出一致的一组特征（6/6），包括语言缺失、严重的整体发育迟缓、小头畸形和生长障碍。在所有可评估的病例中都报告了进食困难、无法行走、智力残疾和癫痫发作（5/5）。6例中有5例出现痉挛。较不常见的表现包括脊柱后凸（3/5）、多毛（3/3）、反射亢进（3/3）和屈曲挛缩（2/4）。颅面异常，如鼻前倾和下颌前突是罕见的，分别只有1 / 3或4例报告。这种疾病通常始于婴儿期。神经生理和神经影像学异常，如大脑和小脑萎缩，提示视觉通路受累和进行性神经退行性病程。所有报告的HLD17病例都携带双等位致病无义AIMP2变异，预计会导致功能丧失；移码、剪接位点和错义变异尚未在文献中报道。这项研究为HLD17的临床、神经影像学和遗传特征提供了新的见解，有助于准确诊断和更好的治疗。

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引用次数: 0

A 6-year-old girl with parsonage-turner syndrome: A mysterious case of sudden bilateral arm weakness, a case report 一个患有牧师-特纳综合征的6岁女孩：一个神秘的突然双侧手臂无力的病例报告

Medical Reports

Pub Date : 2025-07-23 DOI: 10.1016/j.hmedic.2025.100323

Sikandar Ajmal Abbasi , Muhammad Usama bin Shabbir , Siham Alshawamreh , Daniya Jawed , Kamran khan , Mohsin Abbas

Parsonage-Turner Syndrome is a rare idiopathic neurological condition characterized by acute shoulder pain, arm and shoulder atrophy, and muscle weakness. PTS is uncommon, has a wide range of clinical presentations, makes diagnosis difficult, and has no established course of treatment. Here, we present a case of a 6-year-old female diagnosed with bilateral brachial plexus pan plexopathy and PTS. Initial symptoms included acute shoulder pain and subsequent motor deficits in both arms, with no recognized mechanism of damage. The treatment difficulties and clinical complexity related to pediatric PTS are highlighted in this case report. To improve knowledge of the condition's various clinical manifestations, therapeutic responses, and long-term consequences, it is imperative to document such cases.

帕森纳-特纳综合征是一种罕见的特发性神经系统疾病，其特征是急性肩部疼痛，手臂和肩部萎缩以及肌肉无力。PTS是罕见的，有广泛的临床表现，使诊断困难，并没有确定的治疗过程。在这里，我们提出一个6岁的女性诊断为双侧臂丛泛神经丛病和PTS。最初的症状包括急性肩部疼痛和随后的双臂运动障碍，没有明确的损伤机制。本病例报告强调了小儿PTS的治疗困难和临床复杂性。为了提高对这种疾病的各种临床表现、治疗反应和长期后果的认识，有必要记录这些病例。

引用次数: 0

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