International Medical Case Reports Journal最新文献

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In situ Serial Trident Chop for Low-IOP Phacoemulsification without Nuclear Rotation: A Case Report. 原位连续三叉戟切割术治疗无核旋转低iop超声乳化术1例报告。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-23 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S520654
Hung-Chou Lin, Yung-Han Lin
{"title":"In situ Serial Trident Chop for Low-IOP Phacoemulsification without Nuclear Rotation: A Case Report.","authors":"Hung-Chou Lin, Yung-Han Lin","doi":"10.2147/IMCRJ.S520654","DOIUrl":"10.2147/IMCRJ.S520654","url":null,"abstract":"<p><strong>Background: </strong>Phacoemulsification had been made efficient by hydrodissection, nucleus rotation, chopping, and using high vacuum to aspirate lens fragments under high hydrostatic pressure. Yet hydrodissection might be incomplete with the lens nucleus resisting rotation. Further vigorous hydrodissection might rupture the posterior capsule and forceful nuclear rotation might cause zonular dialysis. Encountered with such conditions, we present a case using an in situ serial trident chop technique and hydrodelineation independent of complete hydrodissection and nucleus rotation to avoid related complications.</p><p><strong>Case presentation: </strong>A 61-year-old male patient with grade II nuclear opalescence received phacoemulsification from the author. Incomplete hydrodissection, inadvertent hydrodelineation and difficult nuclear rotation were noted during operation. The author turned to in situ serial trident chop without nuclear rotation under low intraocular pressure (IOP), which was done by dividing the nucleus into four fragments through three serial in situ horizontal chops in the 12 o'clock, 3 o'clock, and 10 o'clock directions, then the fragments were picked to the phaco tip by nucleus manipulator instead of high vacuum produced by phaco tip to reduce the hydrostatic pressure needed for keeping the safe depth of the anterior chamber. The resultant four small nuclear fragments were readily emulsified under a stable anterior chamber with an IOP of 20-28 mmHg and cumulative dissipated energy of 3.28. The eye's central corneal thickness increased from 522 μm before the operation to 540 μm on the following day.</p><p><strong>Conclusion: </strong>Phacoemulsification could be accomplished by in situ serial trident chop under low IOP and hydrodelineation without complete hydrodissection or nuclear rotation for grade II nuclear opalescence, although further investigation is needed to confirm its safety and efficacy.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"763-768"},"PeriodicalIF":0.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12204098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144527849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Large Anterior Cervical Spine Schwannoma Causing Dysphagia: Case Report. 颈椎前大神经鞘瘤致吞咽困难1例。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-21 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S522776
Aleksander Joniec, Jedrzej Mikolajczyk, Bartosz Godlewski
{"title":"Large Anterior Cervical Spine Schwannoma Causing Dysphagia: Case Report.","authors":"Aleksander Joniec, Jedrzej Mikolajczyk, Bartosz Godlewski","doi":"10.2147/IMCRJ.S522776","DOIUrl":"10.2147/IMCRJ.S522776","url":null,"abstract":"<p><strong>Introduction: </strong>Schwannomas are rare benign tumours of Schwann cell origin that rarely undergo malignant transformation and are most often (25-45%) found in the head and neck region. We present a case of a large schwannoma arising directly from the anterior aspect of the cervical spine (C6-C7-Th1) that caused considerable oesophageal displacement and compression, manifesting as dysphagia.</p><p><strong>Case report: </strong>A 52-year-old male patient sought medical advice on account of intermittent dysphagia and a sense of pressure in the neck, in the absence of pain or neurological deficits. A magnetic resonance (MRI) scan and a subsequent open/surgical biopsy revealed a large schwannoma on the anterior aspect of the spine at C6-C7-Th1 causing compression of the oesophagus. Following a neurosurgical consultation, a radical gross resection of the tumour was carried out from an anterior approach, with no neurological complications. A histological examination of the tumour confirmed the initial diagnosis and a follow-up MRI scan demonstrated complete resection.</p><p><strong>Conclusion: </strong>This case of successful treatment of a large schwannoma at the C6-C7-Th1 level highlights the importance of both MR imaging and biopsy in pre-operative planning. An anterior approach, routinely employed in cervical spine surgery, made it possible to perform a radical resection without neurological complications or the need to stabilise the cervical spine, which expedited the patient's return to full fitness.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"735-739"},"PeriodicalIF":0.7,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12191174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144496639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Right Internal Jugular Vein Access for Micra Leadless Pacemaker Implantation in a High-Risk Patient with Severe Iliac Vein Stenosis: A Case Report. 右颈内静脉置入微型无铅起搏器治疗严重髂静脉狭窄高危患者1例报告。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-19 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S529596
Haixiang Xu, Jianfeng Qian, Wen Pan, Jianhua Fan
{"title":"Right Internal Jugular Vein Access for Micra Leadless Pacemaker Implantation in a High-Risk Patient with Severe Iliac Vein Stenosis: A Case Report.","authors":"Haixiang Xu, Jianfeng Qian, Wen Pan, Jianhua Fan","doi":"10.2147/IMCRJ.S529596","DOIUrl":"10.2147/IMCRJ.S529596","url":null,"abstract":"<p><strong>Background: </strong>Leadless pacemakers offer a promising alternative to traditional transvenous pacemakers, especially in patients with complex vascular anatomy or a high risk of infection. Conventional access routes may be compromised in patients with significant venous stenosis or prior vascular interventions, requiring alternative strategies for device implantation.</p><p><strong>Case presentation: </strong>We report the case of a 74-year-old female with sick sinus syndrome, chronic kidney disease, type 2 diabetes, and severe bilateral iliac vein stenosis, who was deemed high-risk for conventional pacemaker implantation. After failed attempts through both femoral veins, the right internal jugular vein (RIJV) was successfully used as an alternative access route for Micra leadless pacemaker implantation. The procedure was performed under ultrasound and fluoroscopic guidance without complications. Post-procedure, the pacing threshold was 0.75 V, sensing was 8.5 mV, and impedance was 760 Ω, all within normal limits.</p><p><strong>Conclusion: </strong>This case highlights the feasibility and safety of using the right internal jugular vein as an alternative access route for leadless pacemaker implantation in high-risk patients when femoral access is not possible. This approach provides a valuable option for patients with complex venous anatomy, contributing to the broader application of leadless pacing technology.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"727-733"},"PeriodicalIF":0.7,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12184698/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Autoimmune Polyglandular Syndrome Type 2 Presentation with Alopecia Universalis, Hashimoto's Disease, and Addison's Disease. 自身免疫性多腺综合征2型表现为普遍秃、桥本病和艾迪生病。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-17 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S515059
Karla Denisse Sales-Morales, Nazhira Torres-Neme, Vladimir Barrera-Villanueva, Alejandro Martínez-Carreón
{"title":"Autoimmune Polyglandular Syndrome Type 2 Presentation with Alopecia Universalis, Hashimoto's Disease, and Addison's Disease.","authors":"Karla Denisse Sales-Morales, Nazhira Torres-Neme, Vladimir Barrera-Villanueva, Alejandro Martínez-Carreón","doi":"10.2147/IMCRJ.S515059","DOIUrl":"10.2147/IMCRJ.S515059","url":null,"abstract":"<p><p>Autoimmune polyglandular syndrome type 2 (APS2) is characterized by the coexistence of primary adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes. APS2 frequently includes conditions affecting non-endocrine organs, such as alopecia, vitiligo, celiac disease, and autoimmune gastritis associated with vitamin B12 deficiency. We report the case of a 30-year-old male with a history of Hashimoto's disease and alopecia universalis, who presented with diarrhea, anorexia, hypoglycemia, and abdominal pain. Physical examination revealed orthostatic hypotension, a non-tender abdomen, and generalized hair loss. Initial laboratory workup showed hyponatremia and hyperkalemia. Further testing, including serum cortisol, ACTH, aldosterone, and 21-hydroxylase antibodies, confirmed the diagnosis of Addison's disease. The patient was treated with prednisone and fludrocortisone. Only two previous cases of APS2 associated with alopecia universalis have been reported: one with concurrent Crohn's disease and another with hypoparathyroidism. This case highlights the importance of recognizing non-endocrine manifestations in patients with autoimmune endocrinopathies to facilitate earlier diagnosis and management.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"719-725"},"PeriodicalIF":0.7,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12182093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recurrent Cerebrospinal Fluid Rhinorrhea Secondary to a Seizure-Induced Skull-Base Defect: An Unusual Complication of Epilepsy. 继发于癫痫诱发的颅底缺损的复发性脑脊液鼻漏:一种罕见的癫痫并发症。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-15 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S528739
Feras Alsulaiman
{"title":"Recurrent Cerebrospinal Fluid Rhinorrhea Secondary to a Seizure-Induced Skull-Base Defect: An Unusual Complication of Epilepsy.","authors":"Feras Alsulaiman","doi":"10.2147/IMCRJ.S528739","DOIUrl":"10.2147/IMCRJ.S528739","url":null,"abstract":"<p><p>Cerebrospinal fluid (CSF) rhinorrhea is a rare but serious condition that most commonly follows skull-base trauma or surgery, and its manifestation as a complication of epilepsy is exceptionally rare. Epilepsy management focuses on seizure control and prevention of immediate complications, such as status epilepticus or fall-related injuries. We describe a 36-year-old male with focal-onset epilepsy who developed recurrent CSF rhinorrhea temporally associated with nocturnal convulsions and a seizure-related cribriform-plate defect confirmed by magnetic resonance imaging and β-2 transferrin testing. We hypothesize that repeated minor cranial trauma and transient intracranial pressure surges during these seizures precipitated the skull-base defect. All alternative etiologies were systematically excluded; although a definitive causal link cannot be proven, the strong temporal association supports this hypothesis. The CSF leak was successfully addressed through endoscopic surgical repair, and preventive measures, including alterations to sleeping arrangements, were implemented. This case underscores the importance of considering CSF leakage in individuals with epilepsy presenting with unexplained nasal discharge, highlighting the need for enhanced seizure management, prompt recognition, and multidisciplinary care to prevent complications.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"713-718"},"PeriodicalIF":0.7,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Asymptomatic Bradycardia in a Neonate: A Rare Manifestation of Respiratory Syncytial Virus Infection with Literature Review. 新生儿无症状心动过缓:呼吸道合胞病毒感染的一种罕见表现并文献复习。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-14 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S524907
Dina W Abdulghani, Dina Tariq Alafandi
{"title":"Asymptomatic Bradycardia in a Neonate: A Rare Manifestation of Respiratory Syncytial Virus Infection with Literature Review.","authors":"Dina W Abdulghani, Dina Tariq Alafandi","doi":"10.2147/IMCRJ.S524907","DOIUrl":"10.2147/IMCRJ.S524907","url":null,"abstract":"<p><p>Respiratory syncytial virus (RSV) is a leading cause of pulmonary infections and is associated with significant morbidity and mortality in infants and children under the age of 2 years. Although RSV infection most commonly affects the respiratory system, it has increasingly been linked to cardiovascular manifestations such as conduction abnormalities. Such complications are exceedingly rare in neonates, especially in the absence of clinical signs of infection. Herein, we present the case of a 3-day-old full-term neonate who presented to the emergency department owing to maternal concern of yellowish discoloration of the skin. During assessment, he exhibited multiple episodes of isolated bradycardia necessitating admission to the intensive care unit for further investigation and monitoring. After an extensive work up for bradycardia, he was found to be RSV positive via nasopharyngeal polymerase chain reaction (PCR). He remained hemodynamically stable with resolution of bradycardia episodes after 4 days. This case highlights the importance of recognizing RSV as a potential cause of arrhythmia in newborns, even in the absence of respiratory symptoms and underscores the need for further studies on the cardiovascular effects of RSV.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"705-711"},"PeriodicalIF":0.7,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Successful Management of Incidentally-Detected Subclavian Stenosis During Anesthetic Preparation for Spinal Surgery: A Case Report. 脊柱手术麻醉准备过程中意外发现的锁骨下狭窄的成功处理:1例报告。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-12 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S515664
Ala A Alhowary, Saif Gharaibeh, Abdelwahab Aleshawi
{"title":"Successful Management of Incidentally-Detected Subclavian Stenosis During Anesthetic Preparation for Spinal Surgery: A Case Report.","authors":"Ala A Alhowary, Saif Gharaibeh, Abdelwahab Aleshawi","doi":"10.2147/IMCRJ.S515664","DOIUrl":"10.2147/IMCRJ.S515664","url":null,"abstract":"<p><strong>Background: </strong>Subclavian artery stenosis is mainly caused by atherosclerotic changes, which may result in ischemic events in the upper limbs and the central nervous system. Other etiological causes include radiation exposure, vasculitis, neurofibromatosis, external compression syndrome, and fibromuscular dysplasia. The conventional anesthetic challenge for these patients is to maintain cerebral perfusion.</p><p><strong>Case presentation: </strong>We present a case of incidentally discovered left subclavian stenosis in a 65-year-old male who was admitted for spinal surgery. The patient had a history of peripheral arterial disease, diabetes mellitus, and heavy smoking. During the preoperative assessment, the blood pressure readings in the department were within the normal range. In the operating theater, blood pressure readings of the two arms revealed readings of 136/85 mmHg and 235/114 mmHg in the right and left arms, respectively. Accordingly, the operation was postponed for further evaluation of the increased interarm systolic blood pressure difference. Computed tomography angiography revealed focal stenosis at the origin of the left subclavian artery, causing approximately 90% narrowing. The patient underwent a successful subclavian artery angioplasty.</p><p><strong>Conclusion: </strong>It is important to report BP readings of blood pressure in both arms of patients with a history of peripheral arterial disease, heavy smoking, or severe metabolic syndrome. Patients with subclavian stenosis are prone to increased inter-arm systolic blood pressure difference. Accordingly, the bilateral measurement of BP is a simple test with valuable impact on the preanesthetic assessment in an emergency setting.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"699-704"},"PeriodicalIF":0.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12170792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Navigating Ambiguous Genitalia: A Case of Dysgerminoma in an Afghan Boy. 导航模糊生殖器:一个阿富汗男孩的异常生殖细胞瘤病例。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-09 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S525745
Murtaza Haidary, Mohammad Amin Yamal, Abdul Manan Bawary, Haider Ali Malakzai, Ahmed Nasir Hanifi, Mujtaba Haidari
{"title":"Navigating Ambiguous Genitalia: A Case of Dysgerminoma in an Afghan Boy.","authors":"Murtaza Haidary, Mohammad Amin Yamal, Abdul Manan Bawary, Haider Ali Malakzai, Ahmed Nasir Hanifi, Mujtaba Haidari","doi":"10.2147/IMCRJ.S525745","DOIUrl":"10.2147/IMCRJ.S525745","url":null,"abstract":"<p><strong>Introduction: </strong>Ambiguous genitalia (AG) present significant challenges in both diagnosis and management. Often associated with disorders of sexual development (DSD), AG can lead to complex medical scenarios, including an increased risk of malignant transformation. This case report underscores the importance of recognizing the clinical implications of AG and the necessity for careful monitoring.</p><p><strong>Case presentation: </strong>We present the case of a 22-year-old male who presented with abdominal pain and distension. Upon physical examination, he exhibited characteristics consistent with ambiguous genitalia, including a small penis and an absent scrotal sac. The diagnostic imaging, particularly computed tomography (CT) scans, revealed a large solid mass in the left adnexa. This mass displayed lobulated outlines and speckled calcifications, which raised concerns for a potentially malignant process. Given the findings, the patient underwent surgical intervention, which included a total abdominal hysterectomy, bilateral salpingo-oophorectomy, and omentectomy to ensure complete removal of the tumor and surrounding affected tissues. Histopathological analysis of the excised tissue confirmed the diagnosis of dysgerminoma, a type of germ cell tumor known for its malignant potential.</p><p><strong>Conclusion: </strong>This case highlights the critical need for vigilant surveillance for malignancy in patients with ambiguous genitalia. The inherent risk factors associated with AG necessitate a proactive approach to patient management, including regular imaging and timely surgical interventions. By adopting a comprehensive care strategy, healthcare providers can optimize patient outcomes and address the unique challenges posed by disorders of sexual development. Continuous monitoring and early intervention are paramount in mitigating the risks of tumor development in this vulnerable demographic.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"691-697"},"PeriodicalIF":0.7,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12165697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene. 常染色体隐性10型肢体肌营养不良症(LGMD,10),由TTN基因的一种新型纯合变异引起。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-04 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S483508
Omar Ahmed Alghamdi, Osama Obaid, Ahmed Gamal Sayed, Hania Farhan, Jamal Sayed
{"title":"Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene.","authors":"Omar Ahmed Alghamdi, Osama Obaid, Ahmed Gamal Sayed, Hania Farhan, Jamal Sayed","doi":"10.2147/IMCRJ.S483508","DOIUrl":"10.2147/IMCRJ.S483508","url":null,"abstract":"<p><p>Limb-girdle muscular dystrophy was first introduced in the 1950s as a distinct family of unusual genetic diseases. The prevalence of the disease is about 4-7/1000, with a spectrum of onset at different ages. LGMD has a cluster of symptoms varying in severity and presentation in patients. Limb-girdle muscular dystrophy`s inheritance is unique as it can be autosomal dominant or recessive. We report a young boy with autosomal recessive limb-girdle muscular dystrophy (LGMD), presented with distal muscle weakness in all four limbs for three years and thinning of legs, arms, and thighs. Our gene of focus is TTN, which is associated with muscle elasticity and myogenesis. Our subtype reported is currently associated with a new homozygous TTN variant; thus, we are writing a novel variant mutation causing limb-girdle muscular dystrophy type 10.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"683-689"},"PeriodicalIF":0.7,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Herpes Zoster of the Sacral Region without Motor Dysfunction in a 55-year-Old Female: A Case Report and Literature Review. 55岁女性无运动功能障碍的骶骨带状疱疹1例报告并文献复习。
IF 0.7
International Medical Case Reports Journal Pub Date : 2025-06-03 eCollection Date: 2025-01-01 DOI: 10.2147/IMCRJ.S525433
Omer A Alsulaiman, Ahmed Abdulaziz Alsaati, Feras Alsulaiman, Danah Aljaafari, Majed Alabdali
{"title":"Herpes Zoster of the Sacral Region without Motor Dysfunction in a 55-year-Old Female: A Case Report and Literature Review.","authors":"Omer A Alsulaiman, Ahmed Abdulaziz Alsaati, Feras Alsulaiman, Danah Aljaafari, Majed Alabdali","doi":"10.2147/IMCRJ.S525433","DOIUrl":"10.2147/IMCRJ.S525433","url":null,"abstract":"<p><p>Herpes zoster infection, commonly known as shingles, typically involves the thoracic and lumbar dermatomes. Sacral involvement is rare, occurring in only 4-8% of cases. This report presents a 55-year-old female with herpes zoster affecting the S1 dermatome, manifesting as burning pain and clustered vesicles on her right leg, without motor dysfunction or urinary symptoms. A clinical diagnosis was made based on a characteristic unilateral S1 dermatomal vesicular eruption. Despite the rarity of sacral herpes zoster without motor involvement, the patient responded well to antiviral treatment and neuropathic pain management, with no complications noted in the long-term follow-up. This case highlights the necessity for clinicians to consider sacral herpes zoster in patients with radicular pain to prevent misdiagnosis.</p>","PeriodicalId":14337,"journal":{"name":"International Medical Case Reports Journal","volume":"18 ","pages":"677-682"},"PeriodicalIF":0.7,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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