OpenMed/multicare-articles huggingface dataset:
The utility of Jerk-locked back averaging technique in diagnosis of generalized myoclonic epilepsy with normal scalp EEG: A case report
Authors: Xiangyu Zheng, Zan Wang, Chang Liu, Minghui Hu, Yudan Lv
Journal: Medicine (Baltimore) (2019)
MeSH terms: Electroencephalography / methods, Electromyography / methods, Epilepsies, Myoclonic / diagnosis, Case Reports, Anticonvulsants / therapeutic use, Epilepsies, Myoclonic / drug therapy, Evoked Potentials / physiology, Humans, Male, Scalp, Young Adult, Anticonvulsants

Rationale:
The diagnosis of myoclonic epilepsy and the classification of generalized or partial type may be challenging, especially when the scalp electroencephalogram (EEG) is normal. In such situation, how to apply another electrophysiological technique to begin the diagnosis and classification? The utility of Jerk-locked back averaging technique has been described in our case.
Patient concerns:
A Chinese patient (male, 21 years old) presented with frequent unilateral or bilateral shoulder-jerking. He has an epilepsy history of complex partial seizure (CPS) or secondary tonic-clonic seizure (sGTCS) for 10 years.
Diagnosis:
After admission, scalp EEG was performed with the normal result when the patient showed the jerks. According to the patient's clinical presentation, we suspected myolconic seizure, but there was lack of objective evidence. Then we used Jerk-locked back averaging technique to help begin the diagnosis. A bilateral-symmetrical time-locked, evoked cortical averaging potential that preceded the jerk has been found. So the jerks were considered as cortical origin and generalized myoclonic seizure was confirmed.
Interventions:
So in this situation, we added another antiepileptic drug of Levetiracetam (1500 mg/24 h).
Outcomes:
One week later, the jerk seizure had disappeared, and in the following visit, he had an improved prognosis with decreased seizure frequency.
Lessons:
Generalized polyspike-slow wave in EEG was common to see in myoclonic seizure and can help to make the classification. However, it should not dissuade clinicians from the diagnosis of myoclonic epilepsy with normal scalp EEG. Under this condition, we may apply other electrophysiological technique such as Jerk-locked back averaging technique, to give objective evidence to verify the cortical origin.
Asymmetric Omphalopagus in a Triplet after In Vitro Fertilization: A Rare Case of Conjoined Twinning
Authors: Samir Jabari, Roman Carbon, Manuel Besendörfer, Arndt Hartmann, Oliver Rompel, André Hoerning, Stephan Söder
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Introduction:
Asymmetric omphalopagus is a rare situation of conjoined twinning, in which a grossly defective twin is attached to the thorax and upper abdomen of the main twin. We describe a case of an asymmetric omphalopagus accompanied by a normal triplet after assisted reproductive technology (ART) and tried to further characterize the all aspects of the conjoined twins. Case Presentation: Perioperative diagnostic imaging was carried out followed by an autopsy to evaluate all aspects of the parasite accompanied by histological, immunohistochemical, and molecular biological evaluation. The parasite had well-developed lower extremities as well as upper extremities with a cleft hand syndrome. The sex was nondeterminable, but DNA fingerprinting revealed that both parasite and autosite are monozygotic, so are females. There was no sign of any axial skeleton or central nervous system. We found a rudimentary rectum with a nonpervious anus, a kidney, ureter, urinary bladder, and a blind-ending urethra. The blood supply of the parasite was connected to the vessel system of the autosite.
Conclusions:
To our knowledge, only two cases of parasitic omphalopagus after ART have been described to date. Altogether, 52 cases have been reported, and in most of them, the parasites were successfully separated.
SCA2 presenting as a focal dystonia
Authors: Nan Cheng, Heather M Wied, James J Gaul, Lauren E Doyle, Stephen G Reich
Journal: J Clin Mov Disord (2018)
Keywords: deep brain stimulation, dystonia, sca2, spinocerebellar ataxia 2
MeSH terms: Case Reports

Background:
Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in ATXN2 on chromosome 12q24. Patients present with adult-onset progressive gait ataxia, slow saccades, nystagmus, dysarthria and peripheral neuropathy. Dystonia is known to occur as SCA2 advances, but is rarely the presenting symptom.
Case presentation:
A 43-year-old right handed woman presented with focal dystonia of the right hand which started two years earlier with difficulty writing. There were only mild cerebellar signs. Her mother was reported to have a progressive gait disorder and we subsequently learned that she had SCA2. A total of 10 maternal family members were similarly affected. Over the course of 10 years, the patient's cerebellar signs progressed only mildly however the dystonia worsened to the extent of inability to use her right hand. Dystonia did not improve significantly with botulinum toxin, levodopa or trihexyphenidyl, but has shown marked improvement since DBS implantation in the GPi.
Conclusions:
We describe a patient with SCA2 who presented with focal dystonia of the right upper extremity. Subtle cerebellar signs as well as the family history became especially important given the absence of predominant gait ataxia. Our case emphasizes that focal dystonia is not only a feature of SCA2, but can also rarely be the presenting sign as well as the most prominent feature during the disease course.
TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report
Authors: Shaofang Huang, Kangxiang Xu, Yuqi Xu, Lu Zhao, Xiaoju He
Journal: Front Med (Lausanne) (2023)
Keywords: tsc2/pkd1 contiguous gene deletions, polycystic kidney disease, pregnant woman, prenatal diagnosis, renal angiomyolipoma, tuberous sclerosis
MeSH terms: Case Reports

TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes. This is a rare contiguous genomic disease with clinical manifestations of tuberous sclerosis and polycystic kidney disease. To our knowledge, this case report is the first known case of TSC2/PKD1 contiguous gene deletions in a pregnant woman. The patient had multiple renal cysts, angiomyolipoma, hypomelanotic macules, shagreen patch, subependymal giant cell astrocytoma, multiple cortical tubers, and subependymal nodules. The patient underwent genetic testing. To exclude genetic defects in the fetus, prenatal fetal genetic testing was performed after obtaining the patient's consent. We found an increasing trend in the size of renal cysts and renal angiomyolipomas in patients with polycystic kidney with tuberous sclerosis during pregnancy. Through enhanced clinical monitoring of patients and prenatal genetic testing of the fetus, timely and effective clinical intervention for the mother may be achieved, thus obtaining the best possible outcome for both mother and fetus.
Case Report: Non-microscopic surgical management of incomplete penile amputation
Authors: Donny Eka Putra, Theddyon Bhenlie Apry Kusbin, Paksi Satyagraha, Stephanie Taneysa Widodo
Journal: F1000Res (2020)
Keywords: case report, penile amputation, replantation, traumatic
MeSH terms: Amputation, Traumatic / surgery, Penis / injuries, Penis / surgery, Case Reports, Adult, Humans, Indonesia, Male, Microsurgery

Background: Penile amputation is an emergency urologic condition requiring immediate attention in order to maximize functional outcomes. Unfortunately, there is limited experience and publication of case reports describing the successful replantation of penis after incomplete amputation, especially in facilities without adequate microsurgical tools and means. We hereby present a case of penile amputation caused by a mechanical grass cutter and a discussion of its surgical management. Case description: A 33-year-old Indonesian male presented to the emergency department with incomplete penile amputation six hours post injury. The patient has no prior medical history and presented with penile amputation due to a mechanical grass cutter trauma. He underwent immediate non-microsurgery reconstructive replantation of the penis, reattaching all visible vascular, corporal, and fascia layers. After replantation, the patient recovered well and showed preserved normal appearance and sensitivity of the penis. Subsequent Doppler ultrasound investigation revealed adequate arterial flow at the distal end of the anastomosis. The patient was discharged five days after surgery. Conclusion: In the absence of microsurgical tools and means, the use of non-microsurgical replantation with an at least 2.5x loupe magnification should be the choice of treatment in the case of incomplete penile amputation. The technique showed good outcomes involving adequate functional and cosmetic restoration.
Pregnancy and delivery while receiving vagus nerve stimulation for the treatment of major depression: a case report
Authors: Mustafa M Husain, Diane Stegman, Kenneth Trevino
Journal: Ann Gen Psychiatry (2005)

Background:
Depression during pregnancy can have significant health consequences for the mother and her infant. Antidepressant medications, which pass through the placenta, may increase the risk of low birth weight and preterm delivery. The use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy may induce serotonergic symptoms in the infant after delivery. Antidepressant medications in breast milk may also be passed to an infant. Vagus nerve stimulation (VNS) therapy is an effective non-pharmacologic treatment for treatment-resistant depression (TRD), but little information exists regarding the use of VNS therapy during pregnancy.
Case presentation:
The patient began receiving VNS therapy for TRD in March 1999. The therapy was effective, producing substantial reductions in depressive symptoms and improvement of function. In 2002, the patient reported that she was pregnant. She continued receiving VNS therapy throughout her pregnancy, labor, and delivery, which enabled the sustained remission of her depression. The pregnancy was uneventful; a healthy daughter was delivered at full term.
Conclusion:
In this case, VNS therapy provided effective treatment for TRD during pregnancy and delivery. VNS was safe for the patient and her child.
Semi-invasive pulmonary aspergillosis in an immunosuppressed patient: a case report
Authors: Fernanda C Cabral, Edson Marchiori, Gláucia Zanetti, Tatiana C Takayassu, Claudia M Mano
Journal: Cases J (2009)

Background:
The authors present the high-resolution computed tomography findings of an immunosuppressed patient with semi-invasive pulmonary aspergillosis.
Case presentation:
The main finding consisted of irregular, thick-walled cavity in the right upper lobe and a mass with soft-tissue attenuation within it and thickening of adjacent pleura. Additional findings were bronchial wall thickening associated with a 'tree-in-bud' pattern. Following the clinical, laboratorial and imaging criteria, the diagnosis of semi-invasive pulmonary aspergillosis was defined and antifungical treatment was introduced.
Conclusion:
The patient responded well to the treatment with improvement in his systemic symptoms and regression of the pulmonary lesions.
Abnormal lens thickening in a child with Weill-Marchesani syndrome 4: A 3-year follow-up case report
Authors: Junting Huang, Kailai Nie, Xinpin Lv, Yuting Liu, Guiqi Yang, Junjiang Fu, Longqian Liu, Hongbin Lv
Journal: Front Med (Lausanne) (2023)
Keywords: adamts17 gene, weill–marchesani syndrome, lens, microspherophakia, myopia
MeSH terms: Case Reports

Background:
Weill-Marchesani syndrome 4 (WMS4) is caused by ADAMTS17 gene variant and clinical abnormalities including lenticular myopia, ectopia lentis, glaucoma, microspherophakia, brachydactyly, and short stature. Due to free of heart defects and joint stiffness compared with other WMS forms, WMS4 has an insidious onset and is often misdiagnosed as high myopia. We combined multiple imaging biometry and whole-exome sequencing to diagnose a case of WMS4 with a 3-year follow-up.
Case presentation:
An 8-year-old boy presented to our ophthalmology department with progressive myopia for 1 year. He had high myopia in both eyes with normal funds, intraocular pressure, and axial length. Ocular examination revealed thicker lenses (right 4.38 mm, left 4.31 mm) with a smaller equatorial diameter (right 7.33 mm and left 7.17 mm) compared to normal children of the same age. Finger length measurement indicates brachydactyly. Whole-exome sequencing identified compound heterozygous missense variants c.2984G > A (p.Arg995Gln) and c.2254A > G (p.Ile752Val) in the ADAMTS17 gene. During the 3 years of follow-up, the thickness of lenses increased significantly (right 4.49 mm, left 4.48 mm), but the equatorial diameter of the lenses had no significant change (right 7.32 mm, left 7.21 mm). As the equivalent lens power increased, the patient's myopia spherical refractive error rose accordingly. Although the anterior chamber angle remained open during follow-up, the intraocular pressure increased to right 20.4 mmHg and left 19.6 mmHg, Iridodonesis and short stature were present.
Conclusion:
This case report highlights the abnormal thickening of the lens in WMS4 compared to the physiological thinning process during childhood. Comprehensive clinical examinations and genetic testing may improve diagnosis, which allows early therapeutic interventions for complications and better visual outcomes for the patient.
Right Diaphragmatic Eventration with an Intrathoracic Kidney: Case Report and Review of the Literature
Authors: Anibal Carrasco, Ricardo Castro
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

We aimed to review the publications on the diagnosis of diaphragmatic eventration and report on the clinical presentation and surgical treatment of a female patient aged 17 years. The present case, though quite infrequent, shows the presence of an ectopic thoracic kidney on the right side. The clinical features included dry cough, chest pain, respiratory distress, and bronchial spasms for 4 years; additionally, the patient had episodes of bronchial asthma since her childhood. The right hemithorax presented invasion of the thin loops, right colon, and kidney. The treatment approach was laparoscopic followed by thoracotomy using a dual mesh. The intrathoracic kidney remained in place. The outcome was satisfactory. Diaphragmatic eventration associated with thoracic renal ectopia is a very rare entity, considering the age, sex, and right location of the condition. It represents a clinical and diagnostic challenge; clinicians, radiologists, and surgeons must be alert with a high degree of suspicion in order to correlate symptoms and imaging findings and understand the etiopathogenesis. In addition, they should plan an adequate and individualized surgical repair making use, as far as possible, of the minimally invasive procedures that are currently used.
Early Bortezomib Therapy for Refractory Anti-NMDA Receptor Encephalitis
Authors: Marion T Turnbull, Jason L Siegel, Tara L Becker, Alana J Stephens, A Sebastian Lopez-Chiriboga, William D Freeman
Journal: Front Neurol (2020)
Keywords: anti-nmda receptor encephalitis, autoimmune disease, bortezomib, case report, proteosome inhibitor
MeSH terms: Case Reports

Introduction: Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is an increasingly recognized form of immune-mediated encephalitis. Here we present a case that represents the shortest hospitalization-to-bortezomib treatment timeline (42 days), and we believe that this is reflected in the patient's outcome with complete independence within a short timeframe. Case Report: We describe a case of anti-NMDA receptor encephalitis in an 18-year-old African American female presenting with progressive, medically refractory disease. Despite two rounds of high-dose intravenous steroids, plasma exchange, immunoglobulin administration, and rituximab for B-cell depletion, the patient failed to respond by hospital day 42 and received off-label use of the proteasome inhibitor bortezomib. During the 15 days after the bortezomib administration, the patient showed dramatic neurologic recovery that allowed her transfer out of the intensive care unit. At follow-up after 1-month, the patient reported feeling normal cognitively and showed dramatic improvement in cognitive scores. Conclusion: This case and literature review provide preliminary evidence that early treatment of anti-NMDA receptor encephalitis with the proteasome inhibitor bortezomib appears safe and tolerable. However, randomized trials are needed to show the efficacy and the long-term benefit.
Pancreatic Leiomyosarcoma With Schistosomiasis Hematobia: A Case Report and Literature Review
Authors: Qiang Li, Daniel Staiculescu, Yurong Zhou, Jiang Chen
Journal: Front Oncol (2021)
Keywords: differential diagnosis, imaging, metastasis, pancreatic leiomyosarcoma, schistosomiasis hematobia
MeSH terms: Case Reports

Pancreatic leiomyosarcoma (PL) is a very rare, malignant neoplasm with a very poor prognosis. Here, we examine a novel case of PL with schistosomiasis hematobia. The patient had been initially misdiagnosed by the first magnetic resonance imaging (MRI). The second imaging examination demonstrated an enlarged heterogeneous tumor mass in the body-tail of pancreas. Following image analysis, the patient underwent a pancreatectomy, splenectomy and lymph node dissections. Sixteen months after the tumor resection, follow-up computed tomography (CT) and MRI revealed tumor metastasis in the liver and lung. PL has non-specific clinical manifestations and imaging characteristics, making early diagnosis very challenging. When it is difficult to distinguish between benign and malignant pancreatic lesions, short-term imaging follow-up is preferred. In this case report, we discuss the relationship between PL and schistosomiasis hematobia.
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Authors: Sara Brito, Kyle Thompson, Jaume Campistol, Jaime Colomer, Steven A Hardy, Langping He, Ana Fernández-Marmiesse, Lourdes Palacios, Cristina Jou, Cecilia Jiménez-Mallebrera, Judith Armstrong, Raquel Montero, Rafael Artuch, Christin Tischner, Tina Wenz, Robert McFarland, Robert W Taylor
Journal: Front Genet (2015)
Keywords: gfm1, brain mri, encephalopathy, mitochondrial disorders, mtefg1
MeSH terms: Case Reports

Background:
Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes.
Case report:
The authors describe the clinical features and diagnostic workup of an infant who presented with an early onset severe encephalopathy, spastic-dystonic tetraparesis, failure to thrive, seizures and persistent lactic acidemia. Brain imaging revealed thinning of the corpus callosum and diffuse alteration of white matter signal. Genetic investigation confirmed two novel mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1 (mtEFG1), resulting in combined deficiencies of OXPHOS.
Discussion:
The patient shares multiple clinical, laboratory and radiological similarities with the 11 reported patients with mutations involving this gene, but presents with a stable clinical course without metabolic decompensations, rather than a rapidly progressive fatal course. Defects in GFM1 gene confer high susceptibility to neurologic or hepatic dysfunction and this is, to the best of our knowledge, the first described patient who has survived beyond early childhood. Reporting of such cases is essential so as to delineate the key clinical and neuroradiological features of this disease and provide a more comprehensive view of its prognosis.
Case Report of Rare Type Submucosal Polyp-Angiolipofibroma of Sigmoid Colon
Authors: Khin San Aye, Aung Khine Zan, Myo Thet Tin, Than Than Aye
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Most of the colonic submucosal mesenchymal polyps are benign tumors. They are formed by more than one type of mesenchymal tissue. The diagnosis of angiolipofibroma depends on the histological findings with the proliferation of vascular, fatty, and fibrous connective tissues. Majority of angiolipofibromas are arising in the kidney and have rare presentation as extra renal region. Here we report a case of 58-year-old female patient with angiolipofibroma of sigmoid colon (8.5 cm x 4 cm size) which was treated successfully with surgical resection. The clinical presentation, operative procedure, pathological features, and medical literature review are presented.
Coronary Embolism despite CHA₂DS₂-VASc Score of Zero: Should We Reconsider Anticoagulation?
Authors: Ammar Ahmed, Andrew Assaf, Aditi Shankar, Marcel Zughaib
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Coronary embolism (CE) is a rare but important cause of acute coronary syndrome. The most common source of emboli is considered to be infective endocarditis and atrial fibrillation. Various studies have estimated the prevalence of coronary embolism; however, diagnosis is challenging. Often, it is difficult to differentiate. Nonetheless, this is an important step as treating the underlying cause of an embolism is essential to limit recurrence. However, while this condition may have fatal consequences, due to its uncommon occurrence, there is no consensus on diagnosis and management. We present a case of a 53-year-old obese male, with a history of paroxysmal atrial fibrillation not on anticoagulation due to a low CHA2DS2-VASc score, who presented with chest pain associated with lightheadedness. ECG on admission revealed coarse atrial fibrillation, and troponin was gradually elevating on serial lab workup. Coronary angiography revealed a distal left anterior descending artery occlusion with apical wall akinesis without any evidence of atherosclerotic coronary artery disease. A presumptive diagnosis of coronary embolism secondary to paroxysmal atrial fibrillation was made, and the patient was started on anticoagulation despite a low CHA2DS2-VASc score. This case not only highlights coronary embolism but also illustrates that a low CHA2DS2-VASc score does not mean there is no risk of emboli. For such patients, it is important to take clinical reasoning into account along with the CHA2DS2-VASc score to determine the benefit of anticoagulation.
Unilateral Cervical Lymphadenopathy due to Cladosporium oxysporum: A Case Report and Review of the Literature
Authors: R D Jayasinghe, W A M U L Abeysinghe, P I Jayasekara, Y S Mohomed, B S M S Siriwardena
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Phaeohyphomycosis is a fungal infection caused by Dermatiacae group of fungi, by Cladosporium spp. The term phaeohyphomycosis was introduced by Ajello et al. in 1974 to designate infections by brown pigmented filamentous fungi. Cladosporium oxysporum is a very rare etiological agent in humans. Phaeohyphomycosis of the cervical lymph node in an immunocompetent individual is a very rare clinical entity. To the best of our knowledge we report the first case of phaeohyphomycosis caused by Cladosporium oxysporum in the absence of other systemic manifestations in a 16-year-old male.