OpenMed/multicare-articles huggingface dataset:
A Case of Nemaline Myopathy With Sleep-Related Hypoventilation Diagnosed Using Polysomnography During Daytime Napping
Authors: Kanako Tamura, Kiyohide Komuta, Keijirou Yamauchi, Masashi Yokoyama, Hiroshi Morishita
Journal: Cureus (2024)
Keywords: nemaline myopathy, polysomnography, pseudo-central event, sleep related hypoventilation, transcutaneous pco2
MeSH terms: Case Reports

This is the case of a 49-year-old woman who was admitted to the hospital for a close examination of pulmonary hypertension; however, the next morning, she developed carbon dioxide (CO2) narcosis and was started on artificial ventilation. As pulmonary arterial hypertension was ruled out, the patient was extubated, and 24-hour transcutaneous partial pressure of carbon dioxide (PCO2)(transcutaneous carbon dioxide (TcPCO2)) monitoring was performed to diagnose sleep-related hypoventilation. Polysomnography (PSG) during daytime napping revealed markedly decreased chest motion and a "pseudo-central event," which was neither central nor obstructive hypopnea. Based on the PSG results and physical examination findings, a neuromuscular disorder was suspected, and a muscle biopsy was performed to diagnose nemaline myopathy. Neuromuscular diseases are widely recognized for their association with sleep-disordered breathing; thus, sleep-related hypoventilation should also be considered. Monitoring of TcPCO2 and PSG are useful tools in identifying the cause of hypoventilation; however, overnight PSG may cause CO2 narcosis in some diseases. In such cases, PSG may be beneficial during daytime napping.
Case Report: Early presentation of hereditary angioedema symptoms in a 2-year-old boy
Authors: Jurate Staikuniene-Kozonis, Juste Staikunaite, Edita Gasiuniene, Justina Sematonyte
Journal: Front Pediatr (2024)
Keywords: c1-inh deficiency, c1-inh-hae, serping1, early onset hereditary angioedema, hereditary angioedema (hae)
MeSH terms: Case Reports

Hereditary angioedema (HAE) is a rare autosomal-dominant disease that is caused by a deficiency (type I) or dysfunction (type II) of the C1 inhibitor (C1-INH) due to a mutation in the SERPING1 gene, which codes for C1-INH. HAE with quantitatively and qualitatively normal C1-INH (type III) is often caused by a mutation in the F12 gene and no mutations in the SERPING1 gene and is a group of very rare diseases. The C1 esterase inhibitor (C1-INH) is a major regulator of critical enzymes that are implicated in the cascades of bradykinin generation, which increases vascular permeability and allows the flow of fluids into the extracellular space, resulting in angioedema. HAE clinically manifests with intermittent attacks of swelling of the subcutaneous tissue or submucosal layers of the respiratory and gastrointestinal tract. Young children are typically asymptomatic, and those affected by HAE usually present with symptoms in their early 20s. This article describes the case of very early onset of hereditary angioedema caused by C1-INH deficiency in a 2-year-old boy who experienced recurrent episodes of hand and abdominal angioedema not associated with urticaria or pruritus. His father suffered from severe HAE due to a de novo mutation of the SERPING1 gene. The same mutation of the SERPING1 gene was detected in his son at the age of 9-months prior to the occurrence of angioedema symptoms, during genetic family counseling. This paper advances the understanding of HAE and highlights the importance of genetic counseling of families with HAE to avoid late or inaccurate diagnosis and to initiate treatment on time.
Primary Bladder Non-Hodgkin Lymphoma: A Case Report
Authors: Haobo Zheng, Hao Du, Junjiang Liu
Journal: Cureus (2024)
Keywords: bladder, case report, diagnosis, non-hodgkin lymphoma, tumor
MeSH terms: Case Reports

Primary bladder lymphoma, a rare form of non-Hodgkin's lymphoma, is diagnosed through histopathology and immunostaining. Most bladder lymphomas are of the B-cell type, with a higher incidence in women and often presenting with hematuria. This report details an exceptionally rare case of primary bladder T-cell lymphoma. A 50-year-old male, without hematuria or other symptoms, was diagnosed during a routine ultrasound. A computed tomography scan showed a tumor located in the anterior, right, and posterior walls. The patient underwent transurethral resection of the bladder lesion. Pathological examination of the tumor showed that it was composed of lymphoid tissue, in accordance with peripheral T-cell lymphoma of non-Hodgkin subtype.
Case report: State-of-the-art risk-modifying treatment of sudden cardiac death in an asymptomatic patient with a mutation in the SCN5A gene and a review of the literature
Authors: Petar Brlek, Eduard Stjepan Pavelić, Jana Mešić, Kristijan Vrdoljak, Andrea Skelin, Šime Manola, Nikola Pavlović, Jasmina Ćatić, Gordana Matijević, Josep Brugada, Dragan Primorac
Journal: Front Cardiovasc Med (2023)
Keywords: brugada syndrome, scn5a, atrial fibrillation, implantable cardioverter-defibrillator, sudden cardiac death
MeSH terms: Case Reports

Brugada syndrome is a rare hereditary disorder characterized by distinct ECG findings, complex genetics, and a high risk of sudden cardiac death. Recognition of the syndrome is crucial as it represents a paradigm of sudden death tragedy in individuals at the peak of their lives. Notably, Brugada syndrome accounts for more than 20% of sudden cardiac deaths in individuals with structurally normal hearts. Although this syndrome follows an autosomal dominant inheritance pattern, it is more prevalent and severe in males. Diagnosis is primarily based on the characteristic ECG pattern observed in the right precordial leads. Mutations in the SCN5A gene, resulting in loss of function, are the most common genetic cause. We presented a 36-year-old proband with a family history of sudden cardiac death. Although the patient was asymptomatic for Brugada syndrome, his father had experienced sudden death at the age of 36. The proband was admitted to St. Catherine's Specialty Hospital where blood was taken and subjected to next-generation sequencing (NGS) using a "Sudden cardiac death" panel. The analysis identified a pathogenic variant in the SCN5A gene [c.4222G > A(p.Gly1408Arg)], which is associated with autosomal dominant Brugada syndrome. Based on the positive genetic test result, the patient was referred for further examination. ECG with modified precordial lead positioning confirmed the presence of the Brugada phenotype, displaying the type-2 and type-1 ECG patterns. Therefore, we made the diagnosis and decided to implant an implantable cardioverter-defibrillator (ICD) based on the results of broad genetic NGS testing, diagnostic criteria (ECG), and considering the high burden of sudden cardiac death in the patient's family, as well as his concerns that limited his everyday activities. This case shows that genetics and personalized medicine hold immense potential in the primary prevention, diagnosis, and treatment of Brugada syndrome and sudden cardiac death.
An Atypical Presentation of Childhood Paraganglioma with Seizures: A Case Report and Review of the Literature
Authors: Elizabeth Eberechi Oyenusi, Uzoamaka Felicia Nwigbo, Oluwadamilola Moromoke Oladipo, Blessing Ebele Kene-Udemezue, Kasarachi Pauline Akowundu, Khadijah Omobusola Oleolo-Ayodeji, Oluwaseun Adunni Afoke, Funmilayo Oluwatoyin Babatunde, Felix Makinde Alakaloko, Gabriel Kolawole Asiyanbi, Ezekiel Olayiwola Ogunleye, Abiola Olufunmilayo Oduwole, Foluso Ebun Afolabi Lesi
Journal: Case Rep Endocrinol (2023)
MeSH terms: Case Reports

Introduction:
A paraganglioma (PGL) is a tumour derived from extra-adrenal chromaffin cells of the sympathetic paravertebral ganglia of the thorax, abdomen, and pelvis. Cardiovascular manifestations predominate but neurological symptoms like seizures can occur requiring a high index of suspicion for prompt diagnosis and treatment. Case Description. A 14-year-old girl was referred to the paediatric neurology unit for recurrent headaches of one-year duration, vomiting of 2 months duration, and an episode of generalized tonic-clonic seizures, 2 weeks prior to presentation. There was an associated history of impaired vision, palpitations, diaphoresis, and easy fatigability. Her blood pressure ranged from 150/101 to 160/120 mmHg. The brain CT scan was normal. ECG showed left ventricular hypertrophy. Abdominal USS revealed a right para-aortic mass necessitating 24-hour urine normetanephrine which was markedly elevated-1695.34 mcg/24 h (100-500). An abdominal CT scan confirmed a paraganglioma in the right para-aortic region. A multidisciplinary team consisting of paediatric endocrinologists, radiologists, anaesthetists, paediatric and cardiothoracic surgeons, and the intensive care unit (ICU) team was involved in the peri and postoperative management of the child. Intraoperative challenges were hypertension and hypotension (following tumour excision). She was nursed in the ICU for 48 hours. Histology results confirmed paraganglioma. Postoperative urine normetanephrines done a month after surgery had reverted to normal. Her blood pressure has remained normal 6 months after surgery, and no other symptoms have recurred.
Conclusion:
In evaluating aetiology of childhood hypertension, endocrine causes must be considered though they are rare. The occurrence of paraganglioma is uncommon and can present in unusual ways such as seizures. Measurement of blood pressure in children is advocated as part of routine health care. Clinicians must explore the aetiology of seizures and not merely control them with anticonvulsant therapy.
Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Authors: Yu-Ming Li, Wei Jia, Tao Xin, Yu-Qing Fang
Journal: Front Genet (2023)
Keywords: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, heterozygous, high-temperature requirement serine peptidase a1, mutation, stroke
MeSH terms: Case Reports

Background: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive disorder characterized by baldness, recurrent ischemic stroke, lumbago, headache, and dementia which is closely related to homozygous mutations of the high-temperature requirement serine peptidase A1 (HTRA1) gene. Heterozygous mutations of HTRA1 are usually considered to be non-pathogenic. Although it has been revealed that only a few patients with heterozygous mutations could present some manifestations, their clinical symptoms were atypical, milder, and always with a lower frequency of extra-neurological features. Here, a rare patient with heterozygous mutation of HTRA1 who had all typical features of CARASIL as well as severe clinical symptoms and rapid progression was initially reported in our study. Case presentation: A 43-year-old female patient presented with a gradual onset of headache and cognitive decline. As time progressed, her headache intensified and symptoms of dementia began to manifest gradually. During her early years, she had thinning hair and subsequently experienced two occurrences of ischemic strokes in her thirties. Furthermore, she also had a history of lumbago and urinary retention before visiting our hospital. The patient's magnetic resonance imaging revealed the presence of widespread white matter lesions, infarctions, and microbleeds, in addition to lumbar disc herniation and degenerative lesions. The observed clinical characteristics had a strong correlation with CARASIL, and the patient was diagnosed with a heterozygous missense mutation of 905G>A (Arg302Gln) in the HTRA1 gene. The patient has been under continuous follow-up for a duration exceeding 3 years subsequent to her release from the hospital. She underwent cystostomy, and symptoms of bulbar paralysis developed in a progressive way. Currently, there has been a notable decrease in motor function and activities of daily living, resulting in the individual being confined to bed for a duration exceeding 1 year. Conclusion: This case suggests that patients carrying a heterozygous mutation in G905A may also have typical clinical features of CARASIL, which allows us to have a more comprehensive understanding of CARASIL.
A safe and effective treatment combination of neoadjuvant therapy and surgical resection for metastatic TFE3-rearranged renal cell carcinoma:a case report
Authors: Haiyang Yang, Xiang Dong, Xinghe Pan, Wenliang Ma, Jun Pan, Hongqian Guo, Weidong Gan
Journal: Front Oncol (2023)
Keywords: tfe3, case report, prognosis, renal cell carcinoma, translocation
MeSH terms: Case Reports

TFE3-rearranged renal cell carcinoma (RCC) is a rare subtype of renal tumor that primarily affects young women and is characterized by early metastasis and a poor prognosis. This case study presents a 29-year-old woman diagnosed with TFE3-rearranged RCC, who initially presented with painless gross hematuria. Computed Tomography (CT) imaging revealed the presence of a solid mass in the left kidney along with retroperitoneal metastasis. The patient received axitinib, a vascular endothelial growth factor receptor-tyrosine kinase inhibitor (VEGFR-TKI), as first-line neoadjuvant therapy. Subsequent testing confirmed positive expression of programmed death-1 protein L1 (PDL1), leading to the addition of tislelizumab, a PD1 inhibitor, to the treatment regimen. After 8 months, the patient's tumor size and metastases exhibited significant reduction, providing a favorable opportunity for subsequent surgical intervention. The tumor was classified as IV (pT3aN0M1) based on the pathologic stage of the American Joint Committee on Cancer (AJCC, 8th edition, 2017). The patient achieved long-term survival through combined systemic therapy involving surgery and neoadjuvant treatment. At the 30-month follow-up, there was no evidence of tumor recurrence or metastasis.
Fusion of the Median and Musculocutaneous Nerves Masquerading as Biceps' Innervation from the Median Nerve
Authors: Ioannis Antonopoulos, Margarita-Michaela Ampadiotaki, George Tsikouris, Ioannis Chiotis, Georgios Tsakotos, Ioannis Pathiakis, Theodore G Troupis
Journal: J Brachial Plex Peripher Nerve Inj (2023)
Keywords: biceps' innervation, brachial plexus, median nerve, musculocutaneous nerve
MeSH terms: Case Reports

Embryologically, the musculocutaneous nerve (MCN) comes from the lateral root of the median nerve, and thus numerous anatomical variations concerning the formation and branching pattern of these two nerves of the brachial plexus have been described. In this case study, we describe a relatively uncommon case of fusion of the median and MCNs that was identified during routine teaching dissection of a male human cadaver. The identification of this anatomical variation requires awareness of the embryological background, as it may be confused with biceps innervation from the median nerve or the existence of a communicating branch between the two nerves. In addition, awareness of such anatomical variations is of undisputable significance for the safety of surgical operations in the brachial plexus and the arm in general.
Case report: Amplatzer septal occluder device migration into the descending thoracic aortic isthmus: percutaneous retrieval and redeployment
Authors: Kun Xiang, Qi Ai, Lin He, Chengming Fan
Journal: Front Cardiovasc Med (2023)
Keywords: amplatzer septal occluder device, atrial septal defect, occluder embolization, percutaneous closure, percutaneous retrieval
MeSH terms: Case Reports

Percutaneous closure has emerged as the standard treatment for secundum-type atrial septal defects (ASDs). However, there is a rare but serious complication of occluder device migration and embolization to the heart chambers or distal vasculature during or shortly after implantation. Although this occurrence is extremely rare, it can have disastrous consequences. Fortunately, advancements in equipment and technology have facilitated the transition from surgical procedures to percutaneous techniques for removing embolized occluder devices. In this report, we present a case in which an Amplatzer septal occluder (ASO) device embolized to the descending thoracic aortic isthmus two days after implantation. The device was successfully retrieved using a percutaneous technique, and another ASO device was subsequently redeployed to the ASD. Regrettably, the patient experienced an intraoperative cardiac arrest. Despite prompt rescue efforts and recovery of vital signs, the patient still suffered postoperative sequelae. The main reason for occluder device migration in this case may have been the undersizing of the ASO device due to the operator's lack of caution.
Creating musical life reviews with older people: a community case study
Authors: Avi Gilboa, Nomi Levy
Journal: Front Public Health (2024)
Keywords: community, community music therapy, musical life reviews, older people, ripple effect
MeSH terms: Music, Activities of Daily Living, Aged, Humans, Loneliness

Older people living in their homes might experience growing loneliness, detachment from their social environment, and decreased functional ability. In this community case study, we report on a project we initiated to enhance the functional ability of older people by creating musical life reviews (MLR) with them. We connected seven of our music therapy graduates (MT) to older people living in the neighborhood across the street from campus. MTs were first trained to work by a protocol for creating MLRs with older people, developed by the authors of this article. They then worked with older people from the neighborhood for 10 one-on-one sessions, on personally tailored MLRs. MTs kept on meeting in weekly group supervision sessions, thus learning from each other- and forming a community of their own. Participants expressed their high satisfaction with the process and reported that their MLRs became increasingly important to them. Most of them were interested in taking their MLR one step ahead, and playing it to family and/or friends, and, as part of the process, planned a personal event to do this. Further, two big community events were initiated by participants and MTs. To conclude, we show how the community project enhanced the functional ability of those participating in it. We also point at possible challenges and recommendations for further implementation of the project.
Intraocular twin cysticercosis
Authors: Rohini Grover, Abhishek Varshney, Supreet Juneja, Upma Awashti, Sonali R Singh
Journal: GMS Ophthalmol Cases (2023)
Keywords: b-scan, pars plana vitrectomy, retinal detachment, twin cysticercosis
MeSH terms: Case Reports

A 20-year-old vegetarian male presented with a history of painful diminution of vision in the right eye for the past month. The patient had dense vitritis. B-scan ultrasonography (USG) revealed two cysts with scolices, one subretinally along with retinal detachment and another one in vitreous cavity. Orbital USG revealed no cystic lesions in the orbit or extraocular muscle. He underwent 23 gauge pars plana vitrectomy. Both intravitreal and subretinal cysts were cut and aspirated using cutter and removed from the eye, and silicon oil was injected. Postoperatively he was started on oral steroids and advised to maintain prone positioning for two weeks. At two months his best corrected visual acuity (BCVA) in the right eye was 20/125 with silicon oil in situ.
Numb cheek syndrome in breast cancer: a case report
Authors: Zhibin Tan, Si Ying Tan
Journal: Front Oncol (2024)
Keywords: breast cancer, malignancy, maxillary, neuropathy, numb cheek, trigeminal
MeSH terms: Case Reports

Background:
Numb cheek syndrome, a rare corollary of numb chin syndrome, is due to infra-orbital neuropathy. It can occur in association with an underlying malignancy, which can cause neuropathy by direct malignant nerve infiltration or via a paraneoplastic mechanism. Although numb cheek syndrome has been reported in association with a variety of cancers, it has previously not been reported in association with breast cancer. We report a case of left breast cancer presenting with left numb cheek syndrome.
Case presentation:
A 65-year-old woman presented to the Neurology clinic with a 7-month history of left cheek numbness and occasional cheek tenderness. Examination revealed slightly diminished pin-prick sensation in the left cheek and a vaguely palpable left breast lump. A magnetic resonance imaging scan of the brain showed abnormal enhancement of the left maxillary nerve at the foramen rotundum, but cerebrospinal fluid analysis was normal. Mammography, ultrasound scans, and core biopsy of the left breast confirmed the diagnosis of invasive left breast carcinoma (estrogen and progesterone receptor negative, c-erb-B2 equivocal, fluorescence in-situ hybridization negative). There was no evidence of distant metastases on computed tomography and bone scintigraphy scans. The patient underwent neoadjuvant chemotherapy (4 cycles of doxorubicin and cyclophosphamide, followed by 4 cycles of paclitaxel and carboplatin), and left breast wide excision and sentinel lymph node biopsy, and a repeat magnetic resonance imaging scan performed 2 months after surgical resection showed resolution of the left maxillary nerve enhancement. The patient's left numb cheek symptoms improved over a course of 5 months after cancer resection but did not completely resolve.
Conclusions:
Our case represents the first reported left numb cheek syndrome in association with breast cancer, due to maxillary neuropathy without any discrete mass or compressive cause. To avoid delays in diagnosing malignancy, physicians and surgeons should be aware that numb cheek syndrome can occur in association with an underlying malignancy, and that breast cancer should be counted amongst the possibilities.
Post-traumatic pleural effusion: Don't forget the chylothorax!
Authors: Valentin Bovy, Tom De Keukeleire, Elke Van Schoote, Inge Vanslembrouck, Anne-Marie Bogaert
Journal: Respirol Case Rep (2024)
Keywords: chylothorax, pleural effusion, thoracocentesis, trauma, triglycerides
MeSH terms: Case Reports

In this case we describe a 58-year-old male with bilateral pleural effusion after a blunt trauma to the back. A pleural puncture revealed a chylothorax. An additional computed tomography scan showed a vertebral fracture at level D8 with rupture of the nearby thoracic duct. Our patient could be treated with a conservative approach. This case highlights the importance of ruling out a chylothorax in any post-traumatic pleural effusion. Despite the low prevalence, we consider it a don't-miss diagnosis given the specific treatment requirements.