OpenMed/multicare-articles huggingface dataset:
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
Authors: Matthew M Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S Kishnani, Rebecca L Koch
Journal: Front Genet (2023)
Keywords: adult polyglucosan body disease, glycogen storage disease type iv, patient-reported outcome, polyglucosan body neuropathy, whole exome sequencing
MeSH terms: Case Reports

Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1. Advances in the understanding of the natural history of APBD published in recent years have led to the use of discrete descriptors ("typical" versus "atypical") based on adherence to traditional symptomatology and homozygosity for the p.Y329S variant. Although these general descriptors are helpful in summarizing common findings and symptoms in APBD, they are inherently limited and may affect disease recognition in diverse populations. Methods: This case series includes three American patients (cases 1-3) and four Brazilian patients (cases 4-7) diagnosed with APBD. Patient-reported outcome (PRO) measures were employed to evaluate pain, fatigue, and quality of life in cases 1-3. Results: We describe the clinical course and diagnostic odyssey of seven cases of APBD that challenge the utility and efficacy of discrete descriptors. Cases 1-3 are compound heterozygotes that harbor the previously identified deep intronic variant in GBE1 and presented with "typical" APBD phenotypically, despite lacking two copies of the pathogenic p.Y329S variant. Patient-reported outcome measures in these three cases revealed the moderate levels of pain and fatigue as well as an impacted quality of life. Cases 4-7 have unique genotypic profiles and emphasize the growing recognition of presentations of APBD in diverse populations with broad neurological manifestations. Conclusion: Collectively, these cases underscore the understanding of APBD as a spectrum disorder existing on the GSD IV phenotypic continuum. We draw attention to the pitfalls of commonly used genetic testing methods when diagnosing APBD and highlight the utility of patient-reported outcome questionnaires in managing this disease.
A rare case of concomitant Lambert-Eaton myasthenic syndrome and syndrome of inappropriate antidiuretic hormone secretion in a patient with small cell lung carcinoma
Authors: Yasuharu Oda, Hironobu Tsubouchi, Nobuyuki Ishii, Aya Kitamura, Eiji Moriyama, Eriko Mitsutome, Katsuya Sakai, Kazutaka Shiomi, Shigehisa Yanagi, Taiga Miyazaki
Journal: Respir Med Case Rep (2023)
Keywords: lambert–eaton myasthenic syndrome (lems), small cell lung carcinoma (sclc), syndrome of inappropriate antidiuretic hormone secretion (siadh)
MeSH terms: Case Reports

Small cell lung carcinoma (SCLC) is a neuroendocrine carcinoma with a poor prognosis and is a common cause of paraneoplastic syndromes. Paraneoplastic syndromes are characterized by neurological and endocrinological problems in patients with malignancy and are often associated with difficulty in induction of chemotherapy. Here we report the case of a patient with SCLC concomitant with two paraneoplastic syndromes, syndrome of inappropriate antidiuretic hormone secretion (SIADH) and Lambert-Eaton myasthenic syndrome (LEMS), who was treated with a platinum-doublet chemotherapy regimen. A 66-year-old male patient presented with a 1-month history of progressive proximal muscle weakness, ataxia gait and 5 kg of body weight loss. The laboratory tests revealed hyponatremia due to SIADH and the existence of antibodies against P/Q-type voltage-gated calcium channels. The nerve conduction study showed a low amplitude of compound muscle action potential (0.38 mv), a 34% decrement on 3-Hz stimulation, and a 1939% increment after maximum voluntary contraction in 10 seconds (7.75 mv). The endobronchial ultrasound transbronchial needle aspiration biopsy revealed the pathological findings of SCLC. A 2-cycle chemotherapy regimen of irinotecan plus cisplatin resulted in temporary tumor shrinkage that lasted 2 months, but the improvement of proximal muscle weakness and hyponatremia were maintained over the tumor re-progression period after chemotherapy. Although paraneoplastic syndromes accelerate the decrease in performance status, chemotherapy for SCLC may improve symptoms related to paraneoplastic syndromes and could be considered in similar cases.
Case Report: Transcatheter treatment of aortic coarctation in a 58-year-old patient with LACHT syndrome and left lung agenesis
Authors: Qingxian Tu, Nanqu Huang, Fujia Guo, Minhong Luo, Min Xu, Jiaji Liu, Zhengqiang Yuan, Qianfeng Jiang
Journal: Front Cardiovasc Med (2023)
Keywords: lacht syndrome, aorta covered stent, aortic coarctation, hypertension, lung agenesis
MeSH terms: Case Reports

LACHT (Lung Agenesis, Congenital Heart, and Thumb anomalies) syndrome is an extremely rare congenital anomaly and presents significant challenges in adults due to its poor survival rates. Herein, we report a case of late diagnosis and successful transcatheter treatment of aortic coarctation in a 58-year-old male patient with LACHT syndrome, medically resistant arterial hypertension, and left lung agenesis. Baseline CT angiography showed isthmic aortic coarctation and left lung agenesis, with compensatory right pulmonary artery and vein thickenings. The patient underwent balloon dilation and subsequent implantation of a covered NuMED 45 mm 8-ZIG CP stent with satisfactory outcomes. The pressure gradient decreased from 43 to 23 mmHg. The arterial pressures normalized during the follow-up with fewer medications. Genetic testing identified a heterozygous mutation (c.6583C > T) in the FBN2, supporting the diagnosis of variant Marfan syndrome.
Case Report: Approaches for managing resistant cytomegalovirus in pediatric allogeneic hematopoietic cell transplantation recipients
Authors: Eunkyung Song
Journal: Front Pediatr (2024)
Keywords: cmv cell-mediated immunity, maribavir, pediatric haplo-hct, resistant cytomegalovirus, viral-specific t cell therapy
MeSH terms: Case Reports

The instructional case is a pediatric haploidentical TCRαβ+/CD19+ depleted allogeneic hematopoietic cell transplantation recipient who developed early onset CMV infection, which was complicated by resistant CMV (both UL97 and UL54) and successfully managed with maribavir and haploidentical CMV-specific T lymphocytes. Novel approaches to resistant CMV infection are reviewed and effective utilization of recent advances in diagnosis and management of resistant CMV in pediatric HCT are highlighted.
Case report and presentation of a new classification system for hip acetabular and periacetabular ossifications and calcifications
Authors: Luis Perez-Carro, Oscar Perez-Fernandez, Alvaro Cerezal Canga, T Jegathesan, Luis Antonio Ruiz-Villanueva, Luis Cerezal-Pesquera
Journal: SA J Radiol (2024)
Keywords: arthroscopy, hip, labrum, ossification, rectus femoris
MeSH terms: Case Reports

This report describes a rare case in which double calcifications of the acetabular labrum and rectus femoris occurred concomitantly in a middle-aged female patient who was treated successfully with surgical intervention via hip arthroscopy.
Contribution:
This case highlights the existence of various types of calcifications around the acetabulum, with a proposed new classification system for acetabular and periacetabular rim ossifications.
Complete remission of gallbladder neuroendocrine carcinoma with liver metastasis by tislelizumab plus chemotherapy: a case report
Authors: Huafei Li, Jiaming Qiao, Xiaoxia Kou, Cong Wu, Huiying Liu, Jinrong Qiu
Journal: Front Oncol (2024)
Keywords: case report, checkpoint inhibitors, complete remission, gallbladder neuroendocrine carcinoma, tislelizumab
MeSH terms: Case Reports

Background:
Gallbladder neuroendocrine carcinoma (GB-NEC) is an extremely rare cancer with a poor prognosis in the clinic. Although surgical resection remains the primary and preferred therapeutics, many patients are in a late stage and lose the opportunity for surgery. However, due to the extremely low morbidity, the specific treatment guidelines for GB-NEC have not been established.
Case presentation:
A 52-year-old woman was admitted to our hospital with the chief complaint of "almost 1 month after palliative surgery for metastatic gallbladder carcinoma." According to the results of pathological findings and imaging manifestations, the patient was diagnosed with GB-NEC with a clinical stage of pT3N1M1 (IVB). The patient then received tislelizumab plus EP chemotherapy (etoposide 100 mg + cisplatin 30 mg, d1-3) every 3 weeks for 8 cycles from 12 November, 2021, followed by maintenance therapy (tislelizumab alone) every 3 weeks until now. The tumor response was evaluated as complete remission since 13 February, 2023. As of the last follow-up, the patient remains alive, with no complaints of discomfort.
Conclusions:
Gallbladder NEC has no specific symptoms, and the diagnosis is based on pathological and immunohistochemical results. The therapeutic course and efficacy of the case in this study indicates that the application of PD-1 inhibitor might be a feasible therapeutic option for GB-NEC. However, this potential strategy needs validation by further clinical studies in the future.
Successful Treatment of Plasma Cell-Rich Acute Rejection Using Bortezomib: A Case Report
Authors: Sara Hashemi, Reut Hod-Dvorai, Rebecca Tong, Liye Suo
Journal: Case Rep Transplant (2024)
Keywords: allograft biopsy, bortezomib, plasma cell-rich acute rejection (pcar), treatment
MeSH terms: Case Reports

Plasma cell-rich acute rejection (PCAR), a relatively rare subtype of acute allograft rejection, is usually associated with a significantly lower treatment response rate and a higher graft failure rate. PCAR is characterized by the presence of more than 10% of plasma cells out of all graft infiltrating cells, with approximately 40%-60% of PCAR resulting in graft failure within a year. Currently, there is no gold standard for the effective treatment of PCAR. This case report demonstrates the potential treatment effect of bortezomib in PCAR. A 37-year-old woman with reflux nephropathy received a kidney transplant from a brain-dead kidney donor. The patient presented with an acute kidney injury with a serum creatinine level over 4 mg/dL 4 months after the surgery. The allograft biopsy showed acute T cell-mediated rejection (TCMR), Grade IIA, plasma cell-rich variant. There were diffuse polyclonal plasma cells infiltrating the renal parenchyma with marked tubulitis and focal endarteritis. She received a methylprednisolone pulse of 500 mg daily x3, followed by thymoglobulin (rATG) at 4.2 mg/kg. However, a repeated biopsy after 2 months showed persistent plasma cells infiltrate with increased interstitial fibrosis with tubular atrophy. Then, the patient was given one cycle of bortezomib with a total of four subcutaneous injections and continued immunosuppressants of tacrolimus, mycophenolate mofetil, and prednisone. Following the treatment, the patient's serum creatinine level trended down to 2 mg/dL, and a second repeat biopsy after 4 months showed a significant treatment effect with complete resolution of interstitial inflammation and decreased chronicity. Bortezomib is a proteasome inhibitor that prevents cell proliferation by inducing apoptosis in plasma cells and has shown great promise as a therapeutic agent for multiple myeloma. Our case suggests that bortezomib can also be used as a potential therapeutic intervention for patients with PCAR.
Treatment of cognitive and mood disorders secondary to traumatic brain injury by the association of bilateral occipital nerve stimulation and a combined protocol of multisite repetitive transcranial magnetic stimulation and cognitive training: A case report
Authors: Tiphanie Caloc'h, Estelle Le Saout, Séverine Litaneur, Alcira Suarez, Sylvain Durand, Jean-Pascal Lefaucheur, Jean-Paul Nguyen
Journal: Front Neurol (2023)
Keywords: cognitive training, combined strategy, occipital nerve stimulation, refractory headache, repetitive transcranial magnetic simulation, traumatic brain injury
MeSH terms: Case Reports

Purpose:
Cognitive impairment secondary to traumatic brain injury (TBI) is difficult to treat and usually results in severe disability.
Method:
A 48-year-old man presented with chronic refractory headaches and persistent disabling cognitive impairment after TBI. He was first treated with occipital nerve stimulation (ONS) implanted bilaterally to relieve headaches (8 years after the head trauma). Two years later, he was treated with a 6-week protocol combining repetitive transcranial magnetic stimulation (rTMS) delivered to multiple cortical sites (prefrontal cortex, language areas, and areas involved in visuo-spatial functions) and computerized cognitive training (CogT) (targeting memory, language, and visuo-spatial functions) to improve cognitive performance.
Results:
Executive and cognitive functions (attention, ability to perform calculations, and verbal fluency) improved in association with pain relief after ONS (33-42% improvement) and then improved even more after the rTMS-CogT protocol with an additional improvement of 36-40% on apathy, depression, and anxiety, leading to a significant reduction in caregiver burden. The functional improvement persisted and even increased at 6 months after the end of the rTMS-CogT procedure (10 years after the onset of TBI and 2 years after ONS implantation).
Conclusion:
This is the first observation describing sustained improvement in post-TBI refractory headache, depression, and cognitive impairment by the association of bilaterally implanted ONS and a combined procedure of multisite rTMS and CogT to target various brain functions.
Finding the Silver Bullet for Persistent Foramen Hushke
Authors: Theresa Teoh, Asma Abdullah, Guhan Kumarasamy
Journal: Cureus (2024)
Keywords: ear canal mass, external auditory canal dehiscence, persistent foramen hushke, temporomandibular joint prolapse, tmj herniation
MeSH terms: Case Reports

We report a case of persistent foramen Hushke and embark on a literature search from 1990 to 2021. The search was done using electronic databases of PubMed and Google Scholar using the MESH words 'TMJ herniation', 'persistent foramen Hushke', 'TMJ prolapse', 'EAC dehiscence', and 'ear canal mass'. A total of 37 other case reports were included after excluding duplicates and non-English publications. The most common presentations, treatment modalities, complications, and outcomes were discussed. Common presentations include otalgia, tinnitus, otorrhea, and aural fullness. Surgical intervention shows a good outcome, whereas conservative treatment shows a mixed response. Despite the overwhelming success of surgical interventions in treating symptomatic persistent foramen of Hushke, it is still early to establish a guideline to manage these patients, as this condition is rare and presents with variable symptoms. More high-quality studies and a long-term follow-up of the patients may be essential to observe and compare the outcome and recurrence rate of temporomandibular joint (TMJ) herniation.
Rescue Cerclage by McDonald's Technique at 18 Weeks for Cervical Insufficiency With Intravaginal Amniotic Sac: A Case Report
Authors: Pankaj Salvi, Vidya Gaikwad, Ashton Dsouza, Sravani Ankem
Journal: Cureus (2024)
Keywords: cervical cerclage, chorioamnionitis, intravaginal bulging, preterm premature rupture of membranes (pre-prom), recurrent pregnancy loss
MeSH terms: Case Reports

Recurrent pregnancy loss, premature birth, and associated complications exhibit a multifactorial etiology and persist as substantial challenges during pregnancy, despite the notable advancements in the medical field. Among several factors, cervical insufficiency or incompetence emerges as a prominent causal factor, characterized by painless softening and shortening of the cervix associated with absent contractions. The implementation of emergency cerclage represents a pivotal intervention in mitigating preterm birth among individuals with advanced cervical insufficiency. By extending gestational age, this procedure increases the likelihood of neonatal survival without elevating the risk of chorioamnionitis or preterm rupture of the membranes. In this study, an antenatal woman presented with advanced changes in the cervix along with intravaginal bulging amniotic membranes at 18 weeks and underwent a rescue cervical cerclage, resulting in a successful pregnancy.
Sudden Sensorineural Hearing Loss in Patient Incidental to Treatment With Hyaluronic Acid Filler
Authors: Thaís Pincelli, Han Li, Joseph T Breen, Alison Bruce
Journal: Aesthet Surg J Open Forum (2023)
MeSH terms: Case Reports

Hyaluronic acid fillers comprise a major component of aesthetic practice with few serious adverse effects. Hearing loss has not been previously associated with hyaluronic acid filler. The authors describe a case in which a patient developed sudden sensorineural hearing loss 1 day after filler injection into the nasolabial folds. Audiogram showed moderately severe sensorineural loss, and MRI revealed no abnormalities. Despite transtympanic steroid injections and hyperbaric oxygen therapy, the hearing loss persists at the time of writing. Although no causal relationships can be drawn from this case alone, this case serves to reinforce the importance of continued vigilance for future occurrences to minimize the potential risk of this serious adverse event.
Kidney Stone Risk in Normocalcemic Hyperparathyroidism before and after Parathyroid Surgery
Authors: Jie Tang, Kamil Malshy, Gyan Pareek
Journal: Case Rep Endocrinol (2024)
MeSH terms: Case Reports

The higher risk for kidney stone in patients with primary hyperparathyroidism is well-documented; stone risk in patients with normocalcemic primary hyperparathyroidism (NPHPT) remains unclear. We present a case of recurrent calcium kidney stones in a patient with severe idiopathic hypercalciuria and NPHPT. The surgical resection of the parathyroid adenoma failed to reduce kidney stone risk (based on the 24-hr urine study) and kidney stone burden (based on ultrasound). This unique case examines the impact of surgical resection of an ectopic parathyroid adenoma on stone risk in a patient with NPHPT and recurrent calcium kidney stones.
Bell's palsy or an aggressive infiltrating basaloid carcinoma post-mRNA vaccination for COVID-19? A case report and review of the literature
Authors: Anthony M Kyriakopoulos, Greg Nigh, Peter A McCullough, Maria D Olivier, Stephanie Seneff
Journal: EXCLI J (2023)
Keywords: bell's palsy, autoimmunity, basal cell carcinoma, exosomes, mrna vaccines, metastatic malignancy
MeSH terms: Case Reports

We report on an aggressive, infiltrating, metastatic, and ultimately lethal basaloid type of carcinoma arising shortly after an mRNA vaccination for COVID-19. The wife of the patient, since deceased, gave the consent for publishing the case. The malignancy was of cutaneous origin and the case showed symptoms consistent with Bell's palsy and trigeminal neuralgia beginning four days post-vaccination (right side head temporal pain). The temporal pain was suggestive for inflammation and impairment of T cell immune activation. Magnetic Resonance Imaging (MRI) showed a vascular loop on the left lateral aspect of the 5th cranial root exit of cerebellopontine angle constituting presumably a normal variant and was considered as an unrelated factor to the right-sided palsy and pain symptoms that corresponded to cranial nerves V (trigeminal nerve) and VII (facial nerve). In this study we describe all aspects of this case and discuss possible causal links between the rapid emergence of this metastatic cancer and mRNA vaccination. We place this within the context of multiple immune impairments potentially related to the mRNA injections that would be expected to potentiate more aggressive presentation and progression of cancer. The type of malignancy we describe suggests a population risk for occurrence of a large variety of relatively common basaloid phenotype cancer cells, which may have the potential for metastatic disease. This can be avoidable with early diagnosis and adequate treatment. Since facial paralysis/pain is one of the more common adverse neurological events following mRNA injection, careful inspection of cutaneous/soft tissue should be conducted to rule out malignancy. An extensive literature review is carried out, in order to elucidate the toxicity of mRNA vaccination that may have led to the death of this patient. Preventive and precise routine clinical investigations can potentially avoid future mortalities. See also Figure 1(Fig. 1).
Case report: Dissolving carotid plaque associated to Lorlatinib-related dyslipidemia
Authors: Lukas Mayer-Suess, Michael Knoflach, Andreas Pircher, Stefan Kiechl, Christoph Schmidauer, Eva Hametner
Journal: Front Oncol (2024)
Keywords: ldl-c, lorlatinib, case report, dyslipidemia, stroke
MeSH terms: Case Reports

We present a case with prolonged Lorlatinib-related dyslipidemia causing internal carotid artery stenosis, putting the patient at risk of cerebrovascular events. Through intensified lipid-lowering treatment and dose reduction of Lorlatinib, LDL-C levels decreased markedly. Surprisingly, the left sided internal carotid artery stenosis dissolved accordingly. Due to the high efficacy of the new selective tyrosine kinase inhibitors and resulting long-term treatment, it is essential to carefully follow-up and include drug specific side effect monitoring. This case emphasizes that Loraltinib-related dyslipidemia has to be taken seriously and treatment should be initiated as promptly as possible. We conclude that in cases were lipid dysregulation remains and Lorlatinib treatment has to be continued, cerebrovascular appraisal through ultrasound should be considered and, if stenosis is evident, intensified treatment regimen of dyslipidemia or dose reduction of Lorlatinib should be discussed in an interdisciplinary setting.
Case report: Late onset type 3 hemiplegic migraine with permanent neurologic sequelae after attacks
Authors: Mantas Jokubaitis, Givi Lengvenis, Birutė Burnytė, Eglė Audronytė, Kristina Ryliškienė
Journal: Front Neurol (2024)
Keywords: scn1a, brain atrophy, headache, hemiplegic migraine, permanent deficits
MeSH terms: Case Reports

This case study describes a 57-year-old woman with a six-year history of recurrent episodes characterized by visual, sensory, speech disturbances, hemiparesis and severe one-sided headaches accompanied by fever and altered consciousness. Initially misdiagnosed as a stroke, the atypical disease course and MRI findings led to additional genetic testing which revealed a sodium voltage-gated channel gene mutation (T1174S), confirming a diagnosis of sporadic hemiplegic migraine. The migraine prophylaxis showed some improvement in episode frequency and severity. Despite an initial improvement, the patient underwent severe cognitive decline and developed new permanent neurological symptoms during the subsequent 7 years of follow-up.