OpenMed/multicare-articles huggingface dataset:
Multiple cerebral infarctions after intravenous immunoglobulin for Guillain-Barré syndrome: two case reports and review of the literature
Authors: Weisen Wang, Chunhua Feng, Yanqun Liu, Yi Tao, Xiaoying Bi, Xiaojun Hou
Journal: Front Immunol (2024)
Keywords: guillain-barré syndrome, acute bulbar palsy, intravenous immunoglobulin, multiple cerebral infarctions, vascular risk factor
MeSH terms: Cerebral Infarction / diagnostic imaging, Cerebral Infarction / etiology, Guillain-Barre Syndrome / diagnosis, Guillain-Barre Syndrome / immunology, Guillain-Barre Syndrome / therapy, Immunoglobulins, Intravenous / administration & dosage, Immunoglobulins, Intravenous / adverse effects, Immunoglobulins, Intravenous / therapeutic use, Case Reports, Review, Aged, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Immunoglobulins, Intravenous

Background:
Guillain-Barré syndrome (GBS) is a polyradiculoneuropathy mediated by the immune system and is the primary reason for acute flaccid paralysis. Intravenous immunoglobulin (IVIg) is a recognized immunotherapeutic drug that can accelerate recovery from GBS. Limited literature exists concerning cerebral infarction complications with IVIg following its use in the treatment of GBS.
Case presentation:
A patient was diagnosed with the acute inflammatory demyelinating polyradiculoneuropathy subtype of GBS, while another patient was diagnosed with the acute bulbar palsy variant of GBS 2 years prior and experienced a relapse of GBS. Both patients received immunoglobulin therapy, during which multiple acute cerebral infarctions were detected using magnetic resonance imaging. Both patients had a history of coronary artery atherosclerotic heart disease and vertebral artery stenosis, and D-dimer and fibrinogen degradation products were significantly elevated after immunoglobulin therapy.
Conclusions:
The risk of cerebral infarction associated with IVIg is generally low in patients with different GBS variants. Nevertheless, the occurrence of cerebral infarction associated with IVIg might not be insignificant in older patients with vascular risk factors and should be carefully monitored.
Isolated Perforation of Multiple Jejunal Diverticulae: A Very Rare Cause of Acute Abdomen
Authors: Shariful Islam, Aneela Shah, Vijay Naraynsingh
Journal: Cureus (2024)
Keywords: abdominal pain, acute abdomen, bowel resection, diverticulitis, emergency, jejunal diverticulitis, jejunum, laparotomy, perforation, peritonitis
MeSH terms: Case Reports

Isolated jejunal diverticular (JD) perforation is extremely rare; it usually presents as a diagnostic dilemma and is often discovered incidentally on laparotomy. Most of these perforations are single. Literature has revealed only one case of multiple small bowel diverticular perforations. We report the first case of simultaneous perforation of four jejunal diverticulae in an 85-year-old male. Small bowel resection and primary anastomosis were performed. The patient had an uneventful post-operative recovery. This case highlights the importance of prompt diagnosis and timely management to reduce the morbidity and mortality of these patients. It should be included in the differential diagnosis in all elderly patients presenting with acute abdomen.
Case Report: Metagenomic next-generation sequencing applied in diagnosing psittacosis caused by Chlamydia psittaci infection
Authors: Wan Xu, Qing Wang, Lin Li, Binghua Zhu, Qingqing Cai, Xiaoli Yi, Rong Fang, Qian Wang
Journal: Front Cell Infect Microbiol (2023)
Keywords: chlamydia psittaci, diagnosis, infection, mngs, psittacosis
MeSH terms: Chlamydophila psittaci / genetics, Psittacosis / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Anti-Bacterial Agents, High-Throughput Nucleotide Sequencing, Humans, Multilocus Sequence Typing, Anti-Bacterial Agents

Background:

Chlamydia psittaci is the causative agent of psittacosis in humans, while its rapid identification is hampered due to the lack of specificity of laboratory testing methods.
Case presentation:
This study reports four cases of C. psittaci infection after contact with a domestic parrot, all belonging to the same family. Common manifestations like fever, cough, headache, nausea, and hypodynamia appeared in the patients. Metagenomic next-generation sequencing (mNGS) aided the etiological diagnosis of psittacosis, revealing 58318 and 7 sequence reads corresponding to C. psittaci in two cases. The detected C. psittaci was typed as ST100001 in the Multilocus-sequence typing (MLST) system, a novel strain initially reported. Based on the results of pathogenic identification by mNGS, the four patients were individually, treated with different antibiotics, and discharged with favorable outcomes.
Conclusion:
In diagnosing psittacosis caused by a rare C. psittaci agent, mNGS provides rapid etiological identification, contributing to targeted antibiotic therapy and favorable outcomes. This study also reminds clinicians to raise awareness of psittacosis when encountering family members with a fever of unknown origin.
Wunderlich Syndrome Managed with Angiomyolipoma Embolization - Renal Artery Anatomic Variant Augmenting Safe and Nephron-Sparing Intervention
Authors: Tara Prasad Tripathy, Alamelu Alagappan, Ranjan Patel, Srikant Kumar Behera, Panda Sandip Kumar, Suprava Naik
Journal: Acta Med Litu (2024)
Keywords: wunderlich syndrome, angiomyolipoma, embolization
MeSH terms: Case Reports

Background:
Wunderlich syndrome is an uncommon entity characterized by spontaneous, nontraumatic renal bleeding into the subcapsular and perirenal regions. The most frequent benign tumor, angiomyolipoma, is the most common cause of Wunderlich syndrome.
Case presentation:
We report a case of Wunderlich syndrome in angiomyolipoma. Intratumoral pseudoaneurysm arising from feeders of an accessory renal artery supplying the lower pole of the kidney was selectively embolized. Rarely does a sporadic renal angiomyolipoma develop a giant pseudoaneurysm.
Conclusion:
Transarterial embolization is imperative to control the bleeding or as a preventative measure to reduce the risk of intralesional pseudoaneurysm rupture. When vascular interventional facilities are unavailable, surgery may be necessary.
Toxic epidermal necrolysis caused by viral hepatitis A: a case report and literature review
Authors: Yun Ye, Qian Zhang, You-Wen Tan
Journal: Front Med (Lausanne) (2024)
Keywords: hepatitis a virus, immune-mediated, skin, toxic epidermal necrolysis, treatments
MeSH terms: Case Reports

Toxic epidermal necrolysis (TEN) is a rare but serious immune-mediated life-threatening skin and mucous membrane reaction that is mainly caused by drugs, infections, vaccines, and malignant tumors. A 74-year-old woman presented with a moderate fever of unknown cause, which was relieved after 2 days, but with weakness and decreased appetite. Red maculopapules appeared successively on the neck, trunk, and limbs, expanding gradually, forming herpes and fusion, containing a yellow turbidous liquid and rupturing to reveal a bright red erosive surface spreading around the eyes and mouth. The affected body surface area was >90%. The severity of illness score for toxic epidermal necrolysis was 2 points. The drug eruption area and severity index score was 77. She was diagnosed with TEN caused by hepatitis A virus and treated with 160 mg/day methylprednisolone, 300 mg/day cyclosporine, and 20 g/day gammaglobulin. Her skin showed improvements after 3 days of treatment and returned to nearly normal after 1 month, and liver function was completely normal after 2 months.
Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux
Authors: Lei Liang, Haotian Wu, Haixia Meng, Lin Fu, Jianrong Zhao
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: tnxb, compound heterozygous variant, molecular dynamics, single kidney, vesicoureteral reflux
MeSH terms: Kidney / abnormalities, Solitary Kidney, Urogenital Abnormalities, Vesico-Ureteral Reflux / complications, Vesico-Ureteral Reflux / diagnosis, Vesico-Ureteral Reflux / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Humans, Prospective Studies, Renal Adysplasia

Primary vesicoureteral reflux (VUR) is the prevailing congenital anomaly of the kidneys and urinary tract, posing a significant risk for pyelonephritis scarring and chronic renal insufficiency in pediatric patients. Nevertheless, the precise genetic etiology of VUR remains enigmatic. In this current investigation, we conducted whole-exome sequencing on a child exhibiting single kidney, devoid of any familial VUR background, along with both biological parents. Two missense variants (NM_019105.8: exon11: c.4111G>A and NM_019105.8: exon2: c.31A>T) in the TNXB gene were identified through whole-exome sequencing of the child. These variants were found to be inherited from the child's parents, with each parent carrying one of the variants. Molecular dynamics simulations were conducted to assess the impact of these variants on the tenascin XB proteins encoded by them, revealing varying degrees of impairment. Based on our findings, it is suggested that the TNXB compound heterozygous variant, consisting of c.4111G>A and c.31A>T, may be the underlying cause of right renal agenesis and left hydronephrosis in afflicted child. This discovery broadens the genetic range of the TNXB gene and establishes a genetic foundation for disease-specific preimplantation genetic diagnosis (PGD) in prospective pregnancies involving the parents of this afflicted child.
A Case Report on Clotrimazole-Induced Localized Erythema
Authors: Indrani Sarma, Namit Ray, Priyotosh Banerjee, Subhadeep Das, Dhriti Kumar Brahma
Journal: Cureus (2024)
Keywords: allergy, clotrimazole, ear drop, erythema, pruritis
MeSH terms: Case Reports

Clotrimazole, a commonly used antifungal agent, is employed in the treatment of otomycosis and other ear infections. However, its use can lead to adverse drug reactions (ADRs), occasionally manifesting as local irritation or allergic responses. This abstract presents a case study of a patient exhibiting an adverse reaction to clotrimazole ear drops, highlighting the clinical presentation, management, and resolution of the ADR. The patient, a 73-year-old male, presented with itching and erythema over the left pinna extending up to the middle of the sternum following clotrimazole ear drop application. Immediate cessation of the medication and symptomatic treatment led to rapid resolution of symptoms. This case emphasizes the importance of recognizing potential ADRs associated with clotrimazole ear drops and the necessity of prompt intervention to mitigate adverse effects, thereby ensuring optimal patient care.
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants
Authors: Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini
Journal: Front Neurol (2023)
Keywords: aadc deficiency, ddc gene, autonomic dysfunction, compound heterozygous variants, epilepsy, focal seizures
MeSH terms: Case Reports

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder leading to severe combined serotonin, dopamine, norepinephrine, and epinephrine deficiency. We report on a female patient with borderline functioning and sporadic clear-cut focal to bilateral seizures from age 10 years. A neuropsychological assessment highlighted a mild impairment in executive functions, affecting attention span and visual-spatial abilities. Following the diagnosis of epilepsy with a presumed genetic etiology, we applied a diagnostic approach inclusive of a next-generation sequencing (NGS) gene panel, which uncovered two variants in trans in the DOPA decarboxylase (DDC) gene underlying an AADC deficiency. This compound heterozygous genotype was associated with a mild reduction of homovanillic acid, a low level of the norepinephrine catabolite, and a significant reduction of 5-hydroxyindoleacetic acid in cerebrospinal fluid. Remarkably, 3-O-methyldopa (3-OMD) and 5-hydroxytryptophan were instead increased. During the genetically guided re-evaluation process, some mild signs of dysautonomic dysfunction (nasal congestion, abnormal sweating, hypotension and fainting, excessive sleepiness, small hands and feet, and increased levels of prolactin, tiredness, and fatigue), more typical of AADC deficiency, were evaluated with new insight. Of the two AADC variants, the R347Q has already been characterized as a loss-of-function with severe catalytic impairments, while the novel L391P variant has been predicted to have a less severe impact. Bioinformatic analyses suggest that the amino acid substitution may affect affinity for the PLP coenzyme. Thus, the genotype corresponds to a phenotype with mild and late-onset symptoms, of which seizures were the clinical sign, leading to medical attention. This case report expands the spectrum of AADC deficiency phenotypes to encompass a less-disabling clinical condition including borderline cognitive functioning, drug-responsive epilepsy, and mild autonomic dysfunction.
Anesthetic Management and Neuromonitoring in a Patient with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Undergoing Scoliosis Surgery: A Case Report and Review of Literature
Authors: Anna Tanaka, Tim Cai, Michael Platten, Luis E Tollinche, Samuel J DeJoy
Journal: Case Rep Anesthesiol (2024)
MeSH terms: Case Reports

Patients with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) are prone to hypoglycemia and clinical decompensation when metabolic demands of the body are not met. We present a pediatric patient with VLCADD who underwent a posterior spinal fusion for scoliosis requiring intraoperative neurophysiology monitoring. Challenges included minimization of perioperative metabolic stressors and careful selection of anesthetic agents since propofol-based total intravenous anesthesia (TIVA) was contraindicated due to its high fatty acid content. This case is unique due to the sequential use of inhaled anesthetics after TIVA to allow for a rapid wakeup and immediate postoperative physical exam. Additionally, intraoperative neuromonitoring in the setting of VLCADD has not been reported in the literature. With communication among anesthesia, surgery, and neuromonitoring teams before and during the operation, the patient successfully underwent a major surgery without complications. This trial is registered with NCT03808077.
Neonatal mesenteric cyst in a 5-day-old patient: a case report
Authors: Seth Jotham, Alicia Massenga, Geofrey Giiti, Ally Rashid, Erasto Wambura, Fabian Mghanga
Journal: Pan Afr Med J (2024)
Keywords: neonate, case report, mesenteric cyst, segmental resection
MeSH terms: Intestinal Obstruction / diagnosis, Intestinal Obstruction / etiology, Intestinal Obstruction / surgery, Laparotomy / methods, Mesenteric Cyst / diagnosis, Mesenteric Cyst / pathology, Mesenteric Cyst / surgery, Tomography, X-Ray Computed, Case Reports, Constipation / etiology, Female, Follow-Up Studies, Humans, Infant, Newborn, Radiography, Abdominal, Ultrasonography, Vomiting / etiology

Mesenteric cysts have been documented as a rare occurrence in children. They are mostly renowned to be benign intra-abdominal tumors with no known etiology. The symptoms are non-specific ranging from being asymptomatic to an acute abdomen. Most of the diagnoses are made below the age of 10 years with devoid of reports for the early neonatal occurrences. We report a case of an early neonatal mesenteric cyst in a 5-day-old female patient who presented with signs of intestinal obstruction markedly by abdominal distension, vomiting, and absolute constipation. Abdominal X-ray showed evidence of small bowel obstruction while abdominal ultrasound and computed tomography (CT) scan were used to reach the diagnosis of a mesenteric cyst, all laboratory baseline investigations were within a normal range. On laparotomy a 12 by 13 cm cyst that was firmly adhering to the proximal ileal wall was meticulously dissected, complete cystectomy was done with no segmental resection. Histopathologically there were no signs of malignancy and the patient successfully recovered with no signs of recurrences after being followed for a year and a half. Being a rare case in the early neonatal period with unspecific presentations; mesenteric cyst should be considered as one of the diagnoses best to be managed by surgical excision to prevent recurrences.
Case Report: Leadless and left bundle branch area pacemakers, complementary advantages require a personalized approach
Authors: Omair Yousuf, Jae Jeff Lee, Brett D Atwater
Journal: Front Cardiovasc Med (2024)
Keywords: conduction system, leadless, left bundle branch area pacing, pacemaker, physiologic pacing
MeSH terms: Case Reports

Traditional transvenous pacemakers consist of a pacemaker generator usually positioned surgically in the upper left chest on the pectoral muscle fascia and one or more leads positioned through the veins to the right atrium and across the tricuspid valve to the right ventricular apex. While these devices reduce symptoms and improve survival among patients with symptomatic bradycardia, they are associated with an increased risk of infection, venous occlusion, heart failure, and tricuspid valve regurgitation. Although new pacemaker designs minimize these risks, none of the current-generation pacemaker designs effectively eliminate all of them. A personalized approach to selecting the appropriate pacemaker for each patient is needed to optimize outcomes.
Case Report: Endoluminal removal of a conical retrievable superior vena cava filter with a retraction hook attached to the wall
Authors: Xuan Tian, Jianlong Liu, Jinyong Li, Xiao Liu, Mi Zhou, Yule Tian
Journal: Front Cardiovasc Med (2024)
Keywords: case report, filter retrieval, loop-snare, superior vena cava (svc), superior vena cava filter
MeSH terms: Case Reports

We report the case of a 22-year-old male who underwent endoluminal surgery and was implanted an Option Elite filter in the superior vena cava (SVC) while the filter retraction hook was attached to the vessel wall. The patient requested to remove the filter after 155 days. Preoperative ultrasonography and CT examination revealed that the filter retraction hook was very likely to penetrate the SVC wall and its tip was very close to the right pulmonary artery. The SVC was not obstructed, and no thrombus was observed in either upper limb. After the filter retrieval device (ZYLOX, China) failed to capture the filter hook, we introduced a pigtail catheter with its tip partly removed and a loach guidewire, used a modified loop-snare technique to cut the proliferative tissues and free the hook, and finally removed the filter successfully by direct suspension of the guidewire. During this procedure, the patient experienced discomfort, such as chest pain and palpitations, but these symptoms disappeared when procedure completed. Repeated multiangle angiography revealed no contrast medium extravasation, no complications such as pericardial tamponade, pleural effusion, SVC haematoma formation, right pulmonary artery dissecting aneurysm, or intramural haematoma. We initially presented the modified loop-snare technique used to remove a conical superior vena cava filter (SVCF), so this method can be considered a practical and novel auxiliary technique for successful filter retrieval.
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy
Authors: Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Journal: Front Neurol (2024)
Keywords: lgmdr8, trim32, clinical exome sequencing, limb-girdle muscular dystrophy, tripartite motif-containing proteins
MeSH terms: Case Reports

Limb-girdle muscular dystrophy autosomal recessive 8 (LGMDR8) is a rare clinical manifestation caused by the presence of biallelic variants in the TRIM32 gene. We present the clinical, molecular, histopathological, and muscle magnetic resonance findings of a novel 63-years-old LGMDR8 patient of Italian origins, who went undiagnosed for 24 years. Clinical exome sequencing identified two TRIM32 missense variants, c.1181G > A p.(Arg394His) and c.1781G > A p.(Ser594Asp), located in the NHL1 and NHL4 structural domains, respectively, of the TRIM32 protein. We conducted a literature review of the clinical and instrumental data associated to the so far known 26 TRIM32 variants, carried biallelically by 53 LGMDR8 patients reported to date in 20 papers. Our proband's variants were previously identified only in three independent LGMDR8 patients in homozygosis, therefore our case is the first in literature to be described as compound heterozygous for such variants. Our report also provides additional data in support of their pathogenicity, since p.(Arg394His) is currently classified as a variant of uncertain significance, while p.(Ser594Asp) as likely pathogenic. Taken together, these findings might be useful to improve both the genetic counseling and the diagnostic accuracy of this rare neuromuscular condition.