OpenMed/multicare-articles huggingface dataset:
Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene
Authors: Mohammed F Alosaimi, Muddathir H Hamad, Muneera J AlShammari, Dima Z Jamjoom, Najd S Musibeeh
Journal: Front Pediatr (2023)
Keywords: ciita gene, mhc ii, genetic disorder, meningoencephalomyelitis, neurologic disease, novel mutation, type ii bare lymphocyte syndrome
MeSH terms: Case Reports

Background:
Bare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the CIITA gene, which regulates major histocompatibility complex class II (MHC II) expression.
Objective:
We report the case of a Saudi boy with a novel mutation in the CIITA gene who presented with acute and late meningoencephalomyelitis, resulting in severe neurodevelopmental regression.
Methods:
We reviewed the patient's clinical and laboratory data obtained from medical records and performed a literature search on BLS II.
Results:
The patient presented with acute meningoencephalomyelitis confirmed by MRI findings and was later found to carry a homozygous pathogenic variant in the CIITA gene p.(Leu473Hisfs*15). The patient had no MCH II expression, confirming the genetic diagnosis of autosomal recessive BLS II. Surprisingly, the patient's prior clinical history was unremarkable for significant infections or autoimmunity.
Conclusions:
We report a case with a novel CIITA gene mutation presenting atypically with a late and isolated severe infection. Isolated severe meningoencephalomyelitis may be a manifestation of primary immunodeficiency.
Anatomical Variant of the Lateral Circumflex Femoral Artery: A Cadaveric Case Report
Authors: Mason P Granger, Megan E Gremillion, Driskell R Greene, Tristan M Halbrook, Sanjeev S Gummandi, Adegbenro O Fakoya
Journal: Cureus (2024)
Keywords: anatomical variant, anatomy, cadaver, deep femoral artery, femoral artery, lateral circumflex femoral artery
MeSH terms: Case Reports

The lateral circumflex femoral artery (LCFA), a branch of the deep femoral artery (DFA), supplies the muscular and fascial anatomy of the anterior thigh. An undocumented variation of the LCFA was discovered during a dissection of the lower extremities. The LCFA is a vital vessel that can be used in coronary artery bypass grafts (CABGs) and reconstructive and bypass surgical procedures. On the other hand, the LCFA is susceptible to iatrogenic damage during surgeries involving the hip joint and procedures such as femoral nerve blocks. Knowledge of variations in the origin and course of the LFCA, like many other anatomical structures, is an important concept that physicians and health care providers must be aware of when performing anterior thigh procedures. This case report shows an interesting duplication of the LCFA, the first originating superiorly from the common femoral artery (CFA) and the second from the deep femoral artery (DFA) inferiorly. Both LCFAs exhibited typical trifurcation into ascending, descending, and transverse branches.
Torsades de pointes and myocardial infarction following reversal of supraventricular tachycardia with adenosine: a case report
Authors: Milena Ribeiro Paixão, Fernando Faglioni Ribas, Tarso Augusto Duenhas Accorsi, Karine De Amicis, José Leão de Souza Jr
Journal: Einstein (Sao Paulo) (2024)
MeSH terms: Myocardial Infarction / complications, Myocardial Infarction / drug therapy, Tachycardia, Supraventricular / drug therapy, Torsades de Pointes / drug therapy, Case Reports, Adenosine / adverse effects, Arrhythmias, Cardiac, Electrocardiography, Female, Humans, Middle Aged, Adenosine

Adenosine is an antiarrhythmic drug that slows conduction through the atrioventricular node and acts as a coronary blood vessel dilator. This case report highlights two unusual life-threatening events following the use of adenosine to revert supraventricular tachycardia in a structurally normal heart: non-sustained polymorphic ventricular tachycardia and myocardial infarction. A 46-year-old woman presented to the emergency department with a two-hour history of palpitations and was diagnosed with supraventricular tachycardia. Vagal maneuvers were ineffective, and after intravenous adenosine administration, the patient presented with chest pain and hypotension. The rhythm degenerated into non-sustained polymorphic ventricular tachycardia and spontaneously reverted to sinus rhythm with ST elevation in lead aVR and ST depression in the inferior and anterolateral leads. The patient spontaneously recovered within a few minutes. Despite successful arrhythmia reversal, the patient was admitted to the intensive care unit because of an infarction without obstructive atherosclerosis. This report aims to alert emergency physicians about the potential complications associated with supraventricular tachycardia and its reversal with adenosine.
A case of Trousseau syndrome: Screening, detection and complication
Authors: Hui Liu, Meng Jiang, Nan Wu, Qingxin Liu, Xueli Fan
Journal: Open Life Sci (2024)
Keywords: d-dimer levels, trousseau syndrome, brain infarction, cancer-related thrombosis, malignant tumors, three territory signs
MeSH terms: Case Reports

Trousseau syndrome (TS) is a malignant tumor-mediated complication of the hypercoagulable state with an unknown etiology. Laboratory testing results in patients with TS have indicated elevated D-dimer levels. The imaging analysis in patients who had undergone stroke has shown the presence of several cerebral infarction lesions in multiple regions. Since patients have had malignant tumors for a long time when they suffer from a secondary stroke, the optimum time for radical tumor treatment is usually missed. This study reports a case to improve the early screening and detection of TS and reduce the risk of recurrence of cerebral infarction.
Case report: A left forearm mass with eccentric intramedullary ulnar destruction diagnosed as alveolar rhabdomyosarcoma and treated by wide resection and free vascularized fibular graft
Authors: Chenyu Yang, Xinjia Wang, Huaitai Lin, Jinhao Zhu, Zijian Xu, Weidong Wang
Journal: Front Oncol (2024)
Keywords: mdt, alveolar rhabdomyosarcoma, bone destruction, bone reconstruction, en bloc
MeSH terms: Case Reports

Background:
Alveolar Rhabdomyosarcoma is a profoundly malignant soft-tissue sarcoma that predominantly affects children and adolescents. However, the medical field lacks consensus regarding the optimal surgical approach to be undertaken in cases where this tumor causes local bone destruction in the upper limb.
Case description:
A 17-year-old male presented a mass in his left forearm and CT and MRI indicated that the mass had penetrated the ulnar cortex and infiltrating the medulla, resulting in the formation of an eccentric trans-ventricular tumor focus. The sizable tumor affected the volar muscles of the forearm as well as the ulnar bone marrow, exerting pressure on the ulnar artery and vein. It was confirmed by needle biopsy that the mass is alveolar rhabdomyosarcoma. Following two courses of neoadjuvant chemotherapy, the tumor was widely excised en bloc. Autologous fibula with a vascular pedicle was utilized for reconstruction during the procedure. In the postoperative follow-up, no local recurrence of the tumor was observed. Furthermore, the patient retained satisfactory wrist flexion and pronation function in the left forearm.
Conclusions:
Alveolar rhabdomyosarcoma is an uncommon and highly aggressive form of soft tissue sarcoma. Scientific management necessitates a multidisciplinary approach, combining chemotherapy with surgery. In cases where the tumor invaded into compartment of the bone, careful consideration should be given to the boundaries of tumor resection, the extent of osteotomy, and the approach to musculoskeletal reconstruction when designing the surgical plan. Through reporting our own case and thoroughly reviewing previous clinical experiences, we aim to provide valuable insights for the treatment of this particular disease.
Positive outcomes with neoadjuvant chemotherapy in the management of colovesical fistula in cancer: a case report and literature review
Authors: Song Tang, Xinjun Li, Donghua Guo, Fan Zhuo
Journal: Front Pharmacol (2024)
Keywords: cancerous colovesical fistula, case report, neoadjuvant chemotherapy, sigmoid colon cancer, treatment
MeSH terms: Case Reports

Colovesical fistula (CVF) is usually developed from colonic diverticulitis, followed by tumor. Traditional surgery is usually completed in one or more stages. For complex cancerous CVF, radical resection is more difficult. We report a 62-year-old male patient diagnosed with sigmoid colon cancer combined with sigmoid vesical fistula. In the course of treatment, in addition to conventional surgery, neoadjuvant chemotherapy (NAC) was innovatively used. The sigmoid tumor and fistula were significantly shrunken. Radical surgery achieved negative margins.
Cardiac self-limiting rhabdomyomas in a neonatal patient with tuberous sclerosis complex: a case report with negative genetic testing
Authors: Huatao Zhou, Zilong Zheng, Zhi Tu, Yichen Li, Jinfu Yang, Chengming Fan
Journal: Front Pediatr (2023)
Keywords: cardiac tumor, mtor inhibitor, rhabdomyomas, subependymal nodules, tuberous sclerosis complex (tsc)
MeSH terms: Case Reports

Background:
Tuberous Sclerosis Complex (TSC) is a hereditary condition that leads to the development of non-malignant neoplasms in various organs, including cardiac rhabdomyomas, which can cause significant complications.
Case presentation:
This report describes the case of a 15-day-old male neonate who was hospitalized due to intracardiac masses and brain lesions, despite the absence of TSC gene mutations. The patient's mother exhibited facial angiofibromas, a common feature of TSC. Over a 2-year follow-up period, spontaneous regression of the cardiac tumor was observed.
Conclusions:
This case illustrates that not all TSC cases exhibit detectable TSC gene mutations. Current treatment strategies, such as mTOR inhibitors, offer potential effectiveness in managing associated cardiac rhabdomyomas. Further research should focus on evaluating the therapeutic potential of these inhibitors.
Identifying Unmet Social Needs in a Patient Living in Isolation: A Case Report
Authors: Junki Mizumoto, Yukinori Harada, Toshihiro Terui, Saori Horo, Yumi Otaka, Yuya Yokota, Masanari Komatsu, Yuko Takeda
Journal: Cureus (2024)
Keywords: community medicine, family medicine, interprofessional collaboration, medical communication, social determinants of health, social vital signs
MeSH terms: Case Reports

Loneliness and social isolation are common among older adults. To deliver high-quality care to older patients, healthcare professionals should know the social conditions of their patients. Addressing social determinants of health (SDH) in daily practice is beneficial to both patients and healthcare professionals. We illustrate a patient with congestive heart failure and cognitive decline whose social conditions improved through an SDH assessment. An SDH assessment has some potential advantages, which include facilitating a comprehensive understanding of patients' social conditions, visualizing how patients' social conditions have changed, deepening interprofessional collaboration, and ameliorating unnecessary negative emotions toward patients. This case report conveys two key messages. Firstly, healthcare professionals have the capability to evaluate patients' social backgrounds and enhance their health and social conditions through routine care. Secondly, the utilization of an SDH screening toolkit can support and enhance this initiative.
Familial occurrence of imperforate hymen in premature monozygotic twins and their mother: a case report and literature review
Authors: Bernadine Han Ern Chua, Zubair Amin, Yvonne Peng Mei Ng
Journal: Front Pediatr (2024)
Keywords: x-linked dominant, autosomal dominant, congenital malformation, inheritance, neonate
MeSH terms: Case Reports

Background:
Imperforate hymen is an uncommon obstructive anomaly of the developing female reproductive tract. There are occasional case reports of imperforate hymen occurring in family clusters, suggesting a plausible familial mode of inheritance. We describe a set of monozygotic premature twins with imperforate hymen noted at birth, whose mother was diagnosed with the same condition as a teenager. We also elucidate the likely underlying mode of inheritance of imperforate hymen.
Method:
We utilized the CARE (Case Report) guideline in reporting the cases.
Case presentation:
These are monozygotic twins born prematurely at 30 weeks of gestation, noted at birth to have bulging cyst-like structures protruding from their vaginas. The twins were not dysmorphic and did not have any other congenital malformations. Over the next few weeks, these cyst-like structures (mucoceles) became less prominent. The genital anomaly was diagnosed as imperforate hymen. Their mother was also diagnosed with an imperforate hymen when she was 12 years old and was treated with hymenectomy.
Discussion:
This unique occurrence of imperforate hymen in a set of premature monozygotic twins and their mother suggests a plausible autosomal or X-linked dominant mode of inheritance. Given the role of genetic inheritance in imperforate hymen development, it is important to screen female relatives of an index case for this genital anomaly.
Evidence for reticulospinal plasticity underlying motor recovery in Brown-Séquard-plus Syndrome: a case report
Authors: Antonia Maria Eilfort, Maria Rasenack, Björn Zörner, Armin Curt, Linard Filli
Journal: Front Neurol (2024)
Keywords: brown-séquard syndrome, startreact, corticospinal tract, mirror activity, motor recovery, neural plasticity, reticulospinal tract, spinal cord injury
MeSH terms: Case Reports

Brown-Séquard Syndrome (BSS) is a rare neurological condition caused by a unilateral spinal cord injury (SCI). Upon initial ipsilesional hemiplegia, patients with BSS typically show substantial functional recovery over time. Preclinical studies on experimental BSS demonstrated that spontaneous neuroplasticity in descending motor systems is a key mechanism promoting functional recovery. The reticulospinal (RS) system is one of the main descending motor systems showing a remarkably high ability for neuroplastic adaptations after incomplete SCI. In humans, little is known about the contribution of RS plasticity to functional restoration after SCI. Here, we investigated RS motor drive to different muscles in a subject with Brown-Séquard-plus Syndrome (BSPS) five months post-injury using the StartReact paradigm. RS drive was compared between ipsi- and contralesional muscles, and associated with measures of functional recovery. Additionally, corticospinal (CS) drive was investigated using transcranial magnetic stimulation (TMS) in a subset of muscles. The biceps brachii showed a substantial enhancement of RS drive on the ipsi- vs. contralesional side, whereas no signs of CS plasticity were found ipsilesionally. This finding implies that motor recovery of ipsilesional elbow flexion is primarily driven by the RS system. Results were inversed for the ipsilesional tibialis anterior, where RS drive was not augmented, but motor-evoked potentials recovered over six months post-injury, suggesting that CS plasticity contributed to improvements in ankle dorsiflexion. Our findings indicate that the role of RS and CS plasticity in motor recovery differs between muscles, with CS plasticity being essential for the restoration of distal extremity motor function, and RS plasticity being important for the functional recovery of proximal flexor muscles after SCI in humans.
Peripheral Arteriovenous Malformation Embolization Using Squid
Authors: Saima Ahmad, Moeez Uddin
Journal: Case Rep Vasc Med (2023)
MeSH terms: Case Reports

Materials and methods:
Between January 2018 and December 2020, twenty patients (7 men and 13 women) with peripheral high-flow arteriovenous malformations who were treated primarily with arterial embolization using squid were retrospectively included. Anatomical sites being treated included the head and neck (16), extremities (2), uterus (1), and pelvis (1). Squid was used as the sole embolic agent in 15 patients, and transarterial embolization was employed in all cases except one where direct puncture embolization was used. Treatments were delivered over one or two sessions, with or without surgery. A total of 27 sessions were carried out with an interval time ranging from 6 to 36 months between sessions.
Results:
Technical success was achieved in all cases. In those patients treated with squid alone, 13 exhibited total devascularization following embolization, and a further 4 required surgical excision to achieve complete obliteration of the arteriovenous malformation. There were no major complications, cases of microcatheter entrapment, or dimethyl sulfoxide-related pain recorded. On follow-up, one patient reported persistent pain, and another patient developed a garlicky taste. All other patients reported complete resolution of symptoms following treatment.
Conclusion:
This study demonstrates the successful use of squid in managing peripheral arteriovenous malformations with low complication rates and long-term stable results, therefore validating its efficacy when used alone or in combination with other embolic agents. Squid may be the preferred embolic agent in any interventional radiologist's armamentarium as it offers formulations with varying viscosities (squid-18 and squid-12). We conclude that squid should be considered as a first-line embolic agent in the management of peripheral arteriovenous malformations.
Better Safe Than Sorry: A Rare Case of a Laryngeal Foreign Body and the Unconventional Use of Cook® Airway
Authors: Muhammad Syafiq H Musa, Zhi Xiang Yeoh, Mawaddah Azman
Journal: Cureus (2024)
Keywords: airway exchange catheter, aspiration, cook airway, foreign body larynx, inhalation, pediatric
MeSH terms: Case Reports

Foreign body (FB) inhalation in the pediatric population is a common emergency referral in otolaryngology practice. Mismanagement can lead to significant morbidity or even mortality. Anesthesiologists conventionally use the Cook® airway exchange catheter (CAEC) during endotracheal tube exchange in the intensive care unit, but its usage as an oxygen conduit is beneficial in other airway procedures. A healthy two-year-old boy was brought to casualty for allegedly choking on a boneless chicken meat bolus during mealtime. The initial presentation showed that the child was comfortable with soft audible stridor without signs of respiratory distress. Bedside video laryngoscopy revealed a whitish FB in the proximity of the vocal cord. The patient was subjected to emergency direct laryngoscopy and bronchoscopy to retrieve the FB. Under general anesthesia, the true nature of FB was revealed, which was an embedded chicken bone into the laryngeal ventricle, causing a significant reduction of the rima glottis opening. CAEC was used to maintain oxygenation during the complex extraction process, and the child was discharged without any morbidity. Eyewitness history is an essential component in diagnosing FB inhalation in the pediatric population. Despite that, identifying potential difficulty is important to provide backup, especially in the case of unexpected events during managing airway emergencies.
Long-term follow-up after treatment of tubercular uveitis: case series and review of the literature
Authors: Ikhwanuliman Putera, Paul L A van Daele, Josianne C E M Ten Berge, Willem A Dik, Rina La Distia Nora, P Martin van Hagen, Saskia M Rombach
Journal: Front Ophthalmol (Lausanne) (2023)
Keywords: anti-tubercular treatment, follow-up, immunosuppressive, recurrence, tubercular uveitis

Introduction:
There is a scarcity of long-term follow-up data and management strategies for recurrent uveitis in tubercular uveitis (TBU), especially in cases extending beyond 10 years after the completion of initial antitubercular treatment (ATT).
Methods:
This retrospective study involved five TBU patients who were initially treated with a combination of four-drug ATT for 6 months, and the five of them had more than 10 years of follow-up after uveitis resolution upon ATT completion. We describe the occurrence of recurrent uveitis and present our approach to managing these recurrent episodes.
Results:
Recurrent uveitis and cystoid macular edema (CME) developed in three out of five included TBU patients with a median of 18 years (range 13-20 years) of follow-up. The anatomical sites of the recurrences were anterior, intermediate, and pan-uveitis. The recurrent episodes varied from 6 years to 15 years after ATT completion. Systemic or local corticosteroids/immunosuppressants successfully resolved all recurrent episodes, but one was also treated with the combination of isoniazid monotherapy again. Two patients needed anti-tumor necrosis factor-α therapy.
Conclusion:
Long-term monitoring of TBU patients after ATT completion is warranted. Further well-designed studies with larger sample sizes are required to better estimate the risk of recurrences, investigate the underlying mechanism of recurrences, and identify biomarkers that predict who is at risk for recurrences.
Solitary Necrotic Nodule of the Liver: A Benign Mimicker of Malignancy
Authors: Nadir Miry, Younesse Najioui, Anass Haloui, Nassira Karich, Amal Bennani
Journal: Cureus (2024)
Keywords: benign liver pathology, liver benign nodule, liver nodule, liver pathology, solitary necrotic nodule
MeSH terms: Case Reports

Solitary necrotic nodule (SNN) of the liver is an uncommon and benign finding in liver pathology. Typically, it appears as a single and asymptomatic lesion, primarily located at the subcapsular region of the right lobe of the liver. Unfortunately, it is easy to mistake this benign lesion for a primary or secondary neoplastic lesion, making it a potential diagnosis pitfall for liver malignancies. The diagnosis of SNN can be difficult to determine as the imaging findings frequently lack specificity. This brings out the importance of histomorphological examination to accurately identify this lesion, and to rule out any possible malignancies. We report here the case of a 35-year-old woman with a history of squamous cell carcinoma of the cervix, who presented a solitary nodule on her liver that was falsely diagnosed as a metastatic lesion in the liver at imagery. The aim of this article is to highlight the importance of using special stains and immunohistochemical staining for diagnosing SNN and excluding any necrotic metastases of the liver. We demonstrated that the absence of a reticulin meshwork in the necrotic core should prompt consideration of a necrotic metastasis in the liver, rather than a solitary necrotic nodule.