OpenMed/multicare-articles huggingface dataset:
Late simultaneous metastasis of renal cell carcinoma to the submandibular and thyroid glands seven years after radical nephrectomy
Authors: Mohammed S Miah, Sharon J White, George Oommen, Esther Birney, Samit Majumdar
Journal: Int J Otolaryngol (2010)
MeSH terms: Case Reports

Background. Renal cell carcinoma (RCC) metastasis to the salivary glands is extremely rare. Most cases reported previously have involved the parotid gland and only six cases involving the submandibular gland exist in the current literature. Metastasis of RCC to thyroid gland is also rare but appears to be more common than to salivary glands. Methods and Results. We present the first case of simultaneous metastasis to the submandibular and thyroid glands from clear cell RCC in a 61-year-old woman who presented seven years after the primary treatment. The submandibular and thyroid glands were excised completely with preservation of the marginal mandibular and recurrent laryngeal nerves, respectively. Conclusion. Metastatic disease should always be considered in the differential diagnosis for patients who present with painless salivary or thyroid gland swelling with a previous history of RCC. If metastatic disease is confined only to these glands, prompt surgical excision can be curative.
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review
Authors: Xingmiao Liu, Zhongbin Zhang, Dong Li, Meifang Lei, Qing Li, Xiaojun Liu, Peiyuan Zhang
Journal: Front Pediatr (2021)
Keywords: dnm1l, drp1, dyskinesia, follow-up study, hypertonia, mitochondrial disease, psychomotor retardation
MeSH terms: Case Reports

Background: Mitochondrial dynamics, including mitochondrial fission and fusion, transport and distribution, biogenesis and degradation, are critical to neuronal function. The dynamin-1 like (DNM1L) gene encodes dynamin-related protein 1 (DRP1/DLP1), which is an evolutionarily conserved member of the dynamin family and is responsible for mitochondrial division. DNM1L variants can lead to mitochondrial fission dysfunction and neurological disorders. Methods: We report a case of DNM1L-related mitochondrial disease admitted to Tianjin Children's Hospital. We searched for similar reported cases in the PubMed database using the terms "DNM1L" and "mitochondrial," reviewed recent literature to summarize the clinical and genetic characteristics, and analyzed genotype-phenotype correlations. Results: The patient presented with psychomotor retardation, motor disturbance (muscle weakness with paroxysmal hypermyotonia), and a de novo variant (c.116G>A, g.22229G>A, p.S39N) in the GTPase domain of DNM1L (reference sequence NM_012062), which has not previously been reported in the literature. This case was combined with an additional 35 cases identified in 20 relevant references in order to analyze a total of 36 patients. The male-to-female ratio was 1:1.06, and the median age of onset was 6 months (range, neonatal period to 9 years). The cardinal symptoms included psychomotor retardation in 77.8% (28/36), limb paralysis in 66.7% (18/27), dystonia in 82.8% (24/29), and epilepsy in 59.4% (19/32). The clinical manifestations of variants in the GTPase domain of DRP1 were milder than those identified in the middle domain. Conclusion: This case report describes a new variant of the DNM1L gene, and summarizes previously reported cases. Furthermore, the clinical phenotype and the genotype of DNM1L gene-associated mitochondrial disease was analyzed to improve the understanding of this disease.
Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia
Authors: Xue Wang, Shanshan Mei, Zichen Tian, Lin Wang, Guiliang Hao, Xin Zhu, Wei Mao, Jianyu Li
Journal: Front Neurol (2022)
Keywords: gch-i mutation, deep brain stimulation, dopa-responsive dystonia, globus pallidus internus, levodopa-resistant
MeSH terms: Case Reports

Dopa-responsive dystonia (DRD) is a group of movement disorders with genetic and clinical heterogeneity. Dramatic response to levodopa is the hallmark of DRD. Therefore, DRD cases with poor response to levodopa are rarely reported. In addition, the clinical outcomes from deep brain stimulation (DBS) in levodopa-resistant patients remain unclear. Here, we described the clinical outcome of pallidal stimulation in a DRD patient having a poor response to levodopa. The patient was a 25-year-old man and had a 7-year history of cervical dystonia. A novel frameshift mutation in the GCH1 gene was found in the patient as well as his elder sister and mother. Unfortunately, he had no response to a large dosage of levodopa/benserazide (600/150 mg per day) and onabotulinumtoxin A injection. Therefore, bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) was performed. With parameter adjustments, the severity of his torticollis was gradually improved and relieved substantially in the 8-month follow-up visit. Our current report highlights that GPi-DBS therapy leads to promising clinical outcomes for levodopa-resistant DRD.
Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene
Authors: Dénes Zádori, Levente Szalárdy, Zita Reisz, Gabor G Kovacs, Rita Maszlag-Török, Norbert F Ajeawung, László Vécsei, Philippe M Campeau, Péter Klivényi
Journal: Front Neurol (2020)
Keywords: atp6v1b2 gene, doors syndrome, lysosome, neuropathology, tauopathy
MeSH terms: Case Reports

DOORS [deafness, onychodystrophy, osteodystrophy, intellectual disability (mental retardation), and seizures] syndrome can be caused by mutations in the TBC1D24 and ATP6V1B2 genes, both of which are involved in endolysosomal function. Because of its extreme rarity, to date, no detailed neuropathological assessment has been performed to establish clinicopathological relationships and, thereby, understand better the neurobiology of this disease in aged cases. Accordingly, the aim of the current study was to highlight the clinicopathological characteristics of a novel case with a presumable de novo mutation in the ATP6V1B2 gene from a neuropathological point of view. This Caucasian male patient, who died at the age of 72 years, presented all the typical cardinal signs of DOORS syndrome. In addition, behavioral alterations, pyramidal signs, and Parkinsonism were observed. The p.R506X pathogenic mutation identified in the ATP6V1B2 gene was responsible for the clinical phenotype. The detailed neuropathological assessment revealed a limbic-predominant tauopathy in the forms of argyrophilic grain disease, primary age-related tauopathy, and age-related tau-astrogliopathy. In summary, we present the first detailed clinicopathological report of a patient with DOORS syndrome harboring a pathogenic mutation in the ATP6V1B2 gene. The demonstrated tauopathy may be considered as a consequence of lysosomal and/or mitochondrial dysfunction, similar to that found in Niemann-Pick type C disease, which is another lysosomal disorder characterized by premature neurodegenerative disorder.
Case report: Sudden onset optic neuritis shortly after SARS-CoV-2 vaccination in an allogeneic hematopoietic stem cell transplant recipient with chronic graft-vs.-host disease
Authors: Chiang Chu, Shin-Kuang Jiang, Yi-Ching Shao, Su-Peng Yeh
Journal: Front Med (Lausanne) (2023)
Keywords: covid-19, graft-vs-host disease, hematopoietic stem cell transplant, optic neuritis, vaccine
MeSH terms: Case Reports

Hematopoietic stem cell transplantation (HSCT) recipients affected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have a high mortality rate. The American Society of Transplantation and Cellular Therapy (ASTCT) and the European Society for Blood and Marrow Transplantation (EBMT) recommend vaccination for these vulnerable populations. However, emerging data suggested that vaccination might elicit immunological adverse events, including an exacerbation of graft-vs.-host disease (GVHD). Herein, we report a case of severe optic neuritis developed shortly after AstraZeneca COVID-19 vaccination in an allogeneic HSCT recipient with underlying chronic GVHD. The patient had a headache 5 days after vaccination, and the disease progressed rapidly to complete blindness 17 days after the vaccination. The diagnosis of optic neuritis was well-confirmed by the presence of an anti-myelin oligodendrocyte glycoprotein antibody and the typical features of MRI image and Ophthalmoscopy. Other differential diagnoses, such as infection or leukemia relapse in the central nervous system (CNS), were carefully excluded. A timely high-dose corticosteroid was administered, and her visual acuity improved rapidly. She returned to her baseline status 1 month later. With more than 1 year of follow-up, no optic neuritis or leukemia relapse was observed. In summary, allogeneic transplant recipients can develop severe optic neuritis after vaccination. Optic neuritis can be an exacerbation of GVHD or rarely a sporadic adverse event of vaccination. Furthermore, our experience indicates that a prompt diagnosis and early steroid treatment are vital for a good recovery.
Pseudoaneurysm of the Anterior Tibial Artery following Ankle Arthroscopy in a Soccer Player
Authors: Ichiro Tonogai, Tetsuya Matsuura, Toshiyuki Iwame, Keizo Wada, Tomoya Takasago, Tomohiro Goto, Daisuke Hamada, Yohei Kawatani, Eiki Fujimoto, Tetsuya Kitagawa, Shyoichiro Takao, Seiji Iwamoto, Moriaki Yamanaka, Masafumi Harada, Koichi Sairyo
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Ankle arthroscopy carries a lower risk of vascular complications when standard anterolateral and anteromedial portals are used. However, the thickness of the fat pad at the anterior ankle affords little protection for the thin-walled anterior tibial artery, rendering it susceptible to indirect damage during procedures performed on the anterior ankle joint. To our knowledge, only 11 cases of pseudoaneurysm involving the anterior tibial artery after ankle arthroscopy have been described in the literature. Here we reported a rare case of a 19-year-old soccer player who presented with pseudoaneurysm of the anterior tibial artery following ankle arthroscopy using an ankle distraction method and underwent anastomosis for the anterior tibial artery injury. Excessive distraction of the ankle puts the neurovascular structures at greater risk for iatrogenic injury of the anterior tibial artery during ankle arthroscopy. Surgeons should look carefully for postoperative ankle swelling and pain after ankle arthroscopy.
Staged management of giant traumatic abdominal wall defect: A rare case report
Authors: Somendra Bansal, Sanchit Jain, Laxmi Narayan Meena
Journal: Burns Trauma (2013)
Keywords: abdominal wall disruption, blunt trauma abdomen, evisceration
MeSH terms: Case Reports

Blunt traumatic abdominal wall disruptions associated with evisceration (abdominal wall injury grade type VI) are very rare. We describe a case of large traumatic abdominal wall disruption with bowel evisceration and complete transection of jejunum and sigmoid colon that occurred after a 30-year-old male sustained run over injury to abdomen. Abdominal exploration and primary end to end jejuno-jejunal and colo-colic anastomosis were done. Staged management of giant abdominal wall defect was performed without any plastic reconstruction with good clinical outcome.
Ataxia telangiectasia: Family management
Authors: Arun Seshachalam, Sanju Cyriac, Neelesh Reddy, Sagar T Gnana
Journal: Indian J Hum Genet (2010)
Keywords: ataxia telangiectasia, family management, malignancy
MeSH terms: Case Reports

Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagnosed to have ataxia telangiectasia at the age of four years, now presented with fever and neck swelling of one month duration. Family history suggestive of ataxia telangiectasia in maternal uncle and younger sibling was present. History of premature coronary artery disease and death in paternal grandfather was present. On evaluation, child was diagnosed to have Alk negative anaplastic large T cell lymphoma. Management included genetic counseling, examination of all the family members, identification of A-T homozygote and providing appropriate care, regular surveillance of the heterozygote for malignancy.
Case Report: Successful Stabilization of Marburg Variant Multiple Sclerosis With Ocrelizumab Following High-Dose Cyclophosphamide Rescue
Authors: Valeria Koska, Moritz Förster, Katja Brouzou, Maryam Hatami, Ercan Arat, Ahmet Aytulun, Philipp Albrecht, Orhan Aktas, Patrick Küry, Sven G Meuth, David Kremer
Journal: Front Neurol (2021)
Keywords: marburg ms, high dose cyclophosphamide, malign ms, neurofilament, ocrelizumab
MeSH terms: Case Reports

The Marburg variant of multiple sclerosis (Marburg MS) is the most aggressive form of MS, often leading to death soon after onset. Here we describe the case of a 26-year-old Marburg MS patient presenting with severe neurological deficits requiring intensive care. In spite of more than 100 gadolinium-enhancing MRI lesions, the patient recovered almost completely upon high-dose cyclophosphamide (HiCy) rescue treatment (four consecutive days with 50 mg/kg/day, cumulative absolute dose of 14 g). Following the acute treatment, her disease was stabilized by B cell depletion using ocrelizumab. Clinical amelioration was reflected by a decrease of MRI activity and a marked decline of serum neurofilament light chain levels. HiCy rescue treatment followed by ocrelizumab as a maintenance therapy prevented permanent disability and achieved an almost complete clinical and drastic radiological improvement in this Marburg MS patient.
Patching of the Inferior Vena Cava Following Lateral Venorrhaphy in Penetrating Traumatic Injury
Authors: Jane Keating, Jason Wade, Katerina Dukleska, James Healy, Elizabeth Aitchinson, Jonathan Gates
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Penetrating injury to the inferior vena cava (IVC) is associated with high morbidity and mortality. Luminal narrowing can occur following lateral venorrhaphy and can lead to future morbidity. This case report discusses the success of patch repair following lateral venorrhaphy in two trauma patients. We describe the use of patch repair to eliminate stenosis of the IVC resulting from primary repair in the setting of traumatic injury. Furthermore, trauma patients are known to be at high risk for venous thromboembolism, and we describe the use of low molecular weight heparin as chemical prophylaxis for prevention of this complication following patch repair.
Mental Nerve Paraesthesia: A Report of Two Cases Associated with Endodontic Etiology
Authors: Neeta Patel, Akshayraj Langaliya, Shikha Kanodia, Aravind Kumbhar, Aastha Buch, Aarshvi Shah, Himani Bhatt, Drashti Panchal, Sharan Shah, Jinali Shah
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Paraesthesia of the mental nerve can occur due to various etiological factors. Rarely, dental infections can cause paraesthesia. However, this article discusses two cases of endodontic etiology in the mental nerve region as a causative factor for paraesthesia. In the first case, the patient had severe pain localized to his right mandible, with numbness of his lower lip. Endodontic treatment led to quick regression and resolution of paraesthesia. In the second case, a patient who was referred for retreatment of a mandibular second premolar infection developed profound paraesthesia in the region of the mental nerve distribution following prior therapy. Possible mechanisms responsible for periapical infection-related paraesthesia are discussed here. CBCT imaging may be useful in the diagnosis and management of such conditions.
Spontaneous Remission After a Hypercalcemic Crisis Caused by an Intracystic Hemorrhage of Bilateral Parathyroid Adenomas: A Case Report and Literature Review
Authors: Yaoxia Liu, Jianwei Li, Hui Liu, Han Yang, Jingtao Qiao, Tao Wei, Tao Wang, Yerong Yu
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: hemorrhage, hypercalcemic crisis, parathyroid adenoma, primary hyperparathyroidism, spontaneous remission
MeSH terms: Adenoma / pathology, Hemorrhage / pathology, Hypercalcemia / pathology, Hyperparathyroidism, Primary / pathology, Parathyroid Glands / pathology, Parathyroid Neoplasms / pathology, Case Reports, Research Support, Non-U.S. Gov't, Humans, Male, Middle Aged, Remission, Spontaneous

Background:
Hyperparathyroidism is a common cause of hypercalcemia; however, spontaneous remission after a hypercalcemic crisis caused by an intracystic hemorrhage of parathyroid adenomas is very rare. The question, then, is "What is the best treatment strategy for this type of case?"
Method:
A 47-year-old male patient with primary hyperparathyroidism and a hypercalcemic crisis is reported. Hypercalcemia was spontaneously relieved thereafter. Postoperative paraffin pathology results indicated an intracystic hemorrhage of bilateral parathyroid adenomas.
Results:
After the case report, a literature review is also included to summarize the clinical features of this patient and to provide special reference for clinical diagnosis and treatment of similar cases.
Conclusions:
The choice of surgical timing for such cases can be made based on the comprehensive consideration of clinical symptoms and changes in parathyroid function.
Diagnostic dilemma in acute neurological presentation of spinal arachnoid cysts: A case report
Authors: Swati Jain, Ira Sun, Boon Chuan Pang, Su Lone Lim, Shiong Wen Low
Journal: Front Surg (2023)
Keywords: decompression, laminectomy, spinal arachnoid cysts, spinal cord compression diagnosis, therapy, weakness
MeSH terms: Case Reports

Background:
Spinal arachnoid cysts are relatively uncommon, cerebrospinal fluid-filled sacs formed by arachnoid membranes that can be either idiopathic or acquired. The neurological presentation of these cysts is varied. Advances in imaging techniques have allowed an improved characterization of these entities and excluded other possible causes of clinical manifestation. Their presentation remains varied, ranging from pain to progressive neurological deficits. Here, we present two cases of patients with thoracic arachnoid cysts that posed a diagnostic dilemma at initial presentation because of their acute neurological deficit, and their eventual recovery after surgical intervention.
Case description:
The first case is of a patient with end-stage renal failure, which prevented the administration of contrast during the workup. The differential diagnosis ranged from intradural abscess to arachnoid cyst. The second patient presented with non-remitting back pain that progressed to an acute neurological deficit. Both patients recovered well after decompression of the cyst.
Conclusion:
The decision to intervene is still patient-dependent and based on the extent of neurological deterioration at the time of presentation due to the relatively benign nature and lack of understanding of the temporal presentation of neurological symptoms, which are rapidly and almost completely reversed after surgery. However, further studies need to be done to understand the acute presentation of these cysts, which are apparently long-standing.
Transabdominal Robot-Assisted Laparoscopic Urethral Diverticulectomy of a Complex Anterior Horseshoe Diverticulum of the Proximal Urethra
Authors: Ganesh Sivarajan, Leonard Glickman, Kenneth Faber, Michelle Kim, Debra Fromer, Ravi Munver
Journal: J Endourol Case Rep (2015)
MeSH terms: Case Reports

Complex, proximal, anteriorly located urethral diverticula present the reconstructive urologist with a uniquely challenging task for repair through a conventional transvaginal approach. Herein, we present the first report of urethral diverticulectomy to excise a large, anterior, horseshoe-shaped urethral diverticulum that resulted in bladder outlet obstruction, using a transabdominal robot-assisted laparoscopic approach.
Concomitant intramyocardial and hepatic hydatid cysts diagnosed by multi-modality imaging: A rare case report
Authors: Hoai Thi Thu Nguyen, Viet Tuan Pham, Hung Duc Duong, James N Kirkpatrick, Walter Robert Taylor, Hung Manh Pham
Journal: Front Cardiovasc Med (2022)
Keywords: cardiac echinococcosis, hydatid cyst, intramyocardial hydatid cyst, multi-modality imaging, three-dimensional echocardiography
MeSH terms: Case Reports

Cardiac echinococcosis is a potentially fatal form of hydatid disease; yet, its diagnosis and treatment are challenging due to the variability in its clinical manifestations and due to its various unpredictable preoperative complications. Multi-modality imaging is shown to provide important guidance for the treatment and decision-making. We report a rare case of a 50-year-old woman who had concomitant cardiac and hepatic hydatid cysts. She presented with abdominal pain and elevated eosinophilic white blood cells. The initial abdominal ultrasound and computerized tomography revealed a large cyst in the liver. An intramyocardial cyst was detected by two-dimensional echocardiography. Three-dimensional echocardiography increased the confidence level of two-dimensional echocardiography by displaying the three-dimensional volume of the cyst and allowing visualization of its spatial characteristics and the relationships with adjacent cardiac structures, which was subsequently confirmed at surgery. Multi-detector computed tomography and magnetic resonance imaging helped localize and define the typical morphological features of the cyst. Serology and antigen detection were used for diagnosis. This rare case underlines the integration of clinical, multi-modality imaging, and pathological data in the diagnosis of concomitant intramyocardial and hepatic hydatid cysts. Surgical resection of cysts and anthelmintic medication were successful in the management of this patient.
A Case Report Examining Early Extubation Following Congenital Heart Surgery in a Low Resource Setting
Authors: Catherine Howes
Journal: Front Pediatr (2019)
Keywords: cardiac, charity, early, extubation, fast-track, mission, paediatric, surgical
MeSH terms: Case Reports

This case report aims to critically analyse the evidence surrounding early extubation in the post-operative phase following complex congenital cardiac surgery. Child A was an 8 year old female who had undergone complex congenital cardiac surgery during an international surgical charity mission. On admission to the paediatric intensive care unit Child A appeared to be in good condition and no major complications had occurred intra-operatively. This was considered alongside the situational pressures of resource limitations and the mission's aim to offer surgery to as many children as possible during the available time frame. The decision was made by the team that Child A was a suitable candidate for 'early extubation.' Some members of the team were uncomfortable with this approach and felt it could lead to poorer outcomes for patients. Current evidence surrounding early extubation both within international surgical mission trips to low-income and middle-income countries and established cardiac centres within high-income countries is examined and discussed alongside the context of resource limitation. Although the process and implications of early extubation following cardiac surgery needs further research, on the basis of the evidence currently available clinicians could potentially encourage the use of early extubation within clinical practice (for appropriately selected patients) through the utilisation of a multidisciplinary approach, both within the UK and during international surgical charity missions to low-income and middle-income countries.