OpenMed/multicare-articles huggingface dataset:
COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review
Authors: Iliana Bersani, Sara Ronci, Immacolata Savarese, Fiammetta Piersigilli, Alessia Micalizzi, Chiara Maddaloni, Andrea Dotta, Annabella Braguglia, Daniela Longo, Francesca Campi
Journal: Front Pediatr (2024)
Keywords: col4a1 gene, collagen type 4, intracerebral hemorrhage, neonate, porencephaly
MeSH terms: Review

Intracranial hemorrhage may represent a complication of the perinatal period that affects neonatal morbidity and mortality. Very poor data exist about a possible association between mutations of the type IV collagen a1 chain (COL4A1) gene and the development of intracranial hemorrhage, and only sporadic reports focus on intracerebral bleedings already developing in utero or in the neonatal period in infants with such a mutation. This study presents a case series of term neonates affected by intracranial hemorrhage, with no apparent risk factors for the development of this condition, who were carriers of COL4A1 gene variants. This study also provides a review of the most recent scientific literature on this topic, specifically focusing on the available scientific data dealing with the perinatal period.
Intracranial Infantile Hemangioma: Highlighting a Rare Presentation With a Case Report and Literature Review
Authors: Sultan F Albalawi, Badr E Hafiz, Alanoud Turki, Murad Alturkustani, Salwa I Bakhsh, Abdulrahman J Sabbagh
Journal: Cureus (2024)
Keywords: case report, cd31, histopathology, intracranial infantile hemangioma, neuropathology, surgical resection
MeSH terms: Case Reports

Infantile hemangioma is a common benign vascular tumor in children, but it is very unusual to be found intracranially. Our literature review identified 44 reported cases. Presentation can vary from asymptomatic to a life-threatening presentation that necessitates urgent surgical removal. There is no general consensus on management of these rare lesions and until recently, treatment was limited to surgery or pharmacological management with steroids, propranolol or interferon. We present a case of a four-week-old male infant with history of vomiting and increase in head circumference since birth. MRI of the brain revealed a large complex cyst occupying the right frontoparietal region, with round soft tissue component that is isointense on T1 and hyperintense on T2 weighted images. Complete surgical resection with evacuation of the cyst was achieved. Histopathology of the mass showed infantile hemangioma with positive CD31 on immunohistochemistry. The patient achieved an excellent outcome following surgical resection.
Cine magnetic resonance imaging predicts thrombus adhesion in metastatic renal cell carcinoma with an inferior vena cava tumor thrombus: A case of pathological complete response with pembrolizumab plus lenvatinib
Authors: Takuto Hara, Junya Furukawa, Takahiro Tsutiya, Takayuki Kodama, Keiichiro Uehara, Tomoaki Terakawa, Kenichi Harada, Jun Teishima, Yuzo Nakano, Masato Fujisawa
Journal: IJU Case Rep (2023)
Keywords: cine mri, lenvatinib, pathological complete response, pembrolizumab, renal cell carcinoma
MeSH terms: Case Reports

Introduction:
Renal cell carcinoma with an inferior vena cava tumor thrombus is a challenging disease that requires a multimodal treatment approach. Pembrolizumab plus lenvatinib has displayed promising efficacy in metastatic renal cell carcinoma.
Case presentation:
A 61-year-old man was diagnosed with metastatic renal cell carcinoma and a tumor thrombus adhering to the inferior vena cava wall by cine magnetic resonance imaging. After 6 months of pembrolizumab and lenvatinib therapy, tumor shrinkage was detected, excluding the advanced portion of the inferior vena cava thrombus, and nephrectomy and thrombectomy were performed. Adhesion of the tumor thrombus to the inferior vena cava wall was observed during surgery. Resection produced a remarkable pathological complete response with no viable cells in the resected specimens, including the thrombus site.
Conclusion:
This case highlights the potential of pembrolizumab plus lenvatinib for treating advanced renal cell carcinoma with an inferior vena cava thrombus and the utility of cine magnetic resonance imaging for evaluating thrombus adhesion to the inferior vena cava.
Prosthetic Rehabilitation of Narrow Mandibular Ridge by Two-Stage Split Technique: A Case Report
Authors: Yashika Bali, Benny Budhwar, Ravpreet Singh, Peter Devadoss
Journal: Cureus (2024)
Keywords: bone ridge, bucco-lingual dimensions, implant, missing tooth, two-stage ridge split
MeSH terms: Case Reports

Subsequent to dental extraction, residual ridge resorption manifests as an inherent biological process unfolding over an approximate duration of one year. This intrinsic phenomenon entails a substantial diminution, occasionally reaching 50%, in the initial bucco-lingual dimensions of the mandibular bone. To address this issue, a dental procedure known as the two-stage ridge split intervention is employed. This process involves two distinct stages: ridge splitting and extension. In the first stage, the dentist splits the alveolar crest to create a widening gap. This allows for the subsequent placement of dental implants. The splitting process is carefully executed to ensure that there's enough space for the implants to be securely embedded, and in the second stage, the widened gap generated through the split and extension of the alveolar crest is replenished with a suitable material. Two common options are hydroxyapatite, a synthetic bone-like substance that promotes bone regeneration, or autogenous bone grafts, which are harvested from the patient's bone, often from another site within the mouth. Following this two-stage procedure, the next step is to place dental implants. However, there's typically a waiting period of eight to 12 weeks. This interval allows for proper healing and integration of the grafted or filled material with the existing bone before the implants are installed. In this case report, a specific patient's experience with the two-stage ridge split procedure in the mandibular region is mentioned. Such case studies are valuable in assessing the success and viability of this dental intervention in narrow mandibular-width cases.
Detection of Testicular Metastasis from Renal Cell Carcinoma on PSMA-PET Scan
Authors: Theresa Olmstead, Michael Emmerling, Surekha Bantumilli, Mathew Raynor, Matthew E Nielsen, Marc A Bjurlin, Tracy L Rose
Journal: J Kidney Cancer VHL (2024)
Keywords: pet imaging, rcc, prostate cancer
MeSH terms: Case Reports

The use of prostate-specific membrane antigen-positron emission tomography (PSMA-PET) is becoming more widespread for the diagnosis and management of prostate cancer. Here we report a case of oligometastatic renal cell carcinoma (RCC) to the testes diagnosed incidentally on PSMA-PET imaging. This case demonstrates the potential for diagnosis of nonprostate disease with PSMA-PET imaging, as well as the promising nature of PSMA-PET for the diagnosis and surveillance of RCC. In addition, this case report discusses the rare occurrence of oligometastatic RCC to the testis.
A Case Report of a Cold Chest Wall Abscess Following Bacillus Calmette-Guérin Vaccination
Authors: Syed Rizwan Hussain, Sarah Rayyani, Dania Fatani, Abdulrhman Almas, Ahlam Alharbi
Journal: Cureus (2024)
Keywords: anti-tuberculosis therapy, bcg vaccine, chest wall abscess, computed tomography, mycobacterium tuberculosis
MeSH terms: Case Reports

The Bacillus Calmette-Guérin (BCG) vaccine, a cornerstone in global immunization programs for tuberculosis prevention, has generally proven to be safe and effective. However, rare complications, including localized abscess formation, have been reported. This case report highlights a two-year-old male who developed a painless swelling on the left chest wall, noticed six weeks post-BCG vaccination. Physical and imaging evaluations confirmed a cold abscess. Laboratory tests ruled out alternative diagnoses. Antitubercular therapy led to a favorable response, avoiding surgical intervention. Follow-up revealed complete resolution, showcasing successful management of this rare BCG-related complication in a pediatric patient. The success of antimycobacterial therapy supports a tailored and conservative approach, raising questions about the necessity of surgical intervention. The presented case sheds light on the complex interplay between BCG vaccination, host response, and rare complications, providing valuable insights for further research. Vigilance, robust surveillance, and collaborative efforts are essential to unravel vaccine-related adverse events. This case contributes to a deeper understanding of rare BCG-related complications, guiding clinical practice, and advancing the knowledge base.
Cranial Neuropathy As Initial Manifestation of Primary Sjögren's Syndrome: A Case Series With Literature Review
Authors: Hamza Lagtarna, Yahya Naji, Nawal Adali
Journal: Cureus (2024)
Keywords: acr-eular criteria, cranial neuropathy, immunosuppression, primary sjögren's syndrome, therapeutic management
MeSH terms: Case Reports

The clinical spectrum of primary Sjögren's syndrome (PSS) extends beyond its classical manifestations. This work explores an unusual aspect of PSS, namely the initial presentation of cranial neuropathy. The study was conducted over a period of 22 months, from January 2022 to October 2023. Of 58 PSS patients, only five (four women and one man) had cranial neuropathy as their initial manifestation. Only one patient had sixth cranial nerve involvement, three had acute optic neuritis (second cranial nerve), and three had fifth cranial nerve involvement. The diagnosis of PSS was retained according to the 2016 ACR-EULAR criteria. All patients received symptomatic and immunosuppressive treatments. The course was favorable for all patients. The purpose of this case series is to show that cranial neuropathy can be the initial manifestation of PSS, which should be systematically investigated after the elimination of the most common etiologies of cranial neuropathy, particularly in the elderly.
Regional spinal cord volumes and pain profiles in AQP4-IgG + NMOSD and MOGAD
Authors: Susanna Asseyer, Ofir Zmira, Laura Busse, Barak Pflantzer, Patrick Schindler, Tanja Schmitz-Hübsch, Friedemann Paul, Claudia Chien
Journal: Front Neurol (2024)
Keywords: aqp4-igg, mog-igg, mogad, mri, nmosd, pain, spinal cord

Objective:
Aquaporin-4-antibody-seropositive (AQP4-IgG+) Neuromyelitis Optica Spectrum Disorder (NMOSD) and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disorder (MOGAD) are relapsing neuroinflammatory diseases, frequently leading to chronic pain. In both diseases, the spinal cord (SC) is often affected by myelitis attacks. We hypothesized that regional SC volumes differ between AQP4-IgG + NMOSD and MOGAD and that pain intensity is associated with lower SC volumes. To evaluate changes in the SC white matter (WM), gray matter (GM), and pain intensity in patients with recent relapses (myelitis or optic neuritis), we further profiled phenotypes in a case series with longitudinal imaging and clinical data.
Methods:
Cross-sectional data from 36 participants were analyzed in this retrospective study, including 20 AQP4-IgG + NMOSD and 16 MOGAD patients. Pain assessment was performed in all patients by the Brief Pain Inventory and painDETECT questionnaires. Segmentation of SC WM, GM, cervical cord volumes (combined volume of WM + GM) was performed at the C2/C3 cervical level. WM% and GM% were calculated using the cervical cord volume as a whole per patient. The presence of pain, pain severity, and clinical disability was evaluated and tested for associations with SC segmentations. Additionally, longitudinal data were deeply profiled in a case series of four patients with attacks between two MRI visits within one year.
Results:
In AQP4-IgG + NMOSD, cervical cord volume was associated with mean pain severity within 24 h (β = -0.62, p = 0.009) and with daily life pain interference (β = -0.56, p = 0.010). Cross-sectional analysis showed no statistically significant SC volume differences between AQP4-IgG + NMOSD and MOGAD. However, in AQP4-IgG + NMOSD, SC WM% tended to be lower with increasing time from the last attack (β = -0.41, p = 0.096). This tendency was not observed in MOGAD. Our case series including two AQP4-IgG + NMOSD patients revealed SC GM% increased by roughly 2% with either a myelitis or optic neuritis attack between visits. Meanwhile, GM% decreased by 1-2% in two MOGAD patients with a myelitis attack between MRI visits.
Conclusion:
In AQP4-IgG + NMOSD, lower cervical cord volume was associated with increased pain. Furthermore, cord GM changes were detected between MRI visits in patients with disease-related attacks in both groups. Regional SC MRI measures are pertinent for monitoring disease-related cord pathology in AQP4-IgG + NMOSD and MOGAD.
Changing Landscape of Haemophilus influenzae Meningitis and Implication on Public Health
Authors: John Allonce, Mohammed Ahsan, Angelina Browne, Rebecca Witherell, Mark Rasnake
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

Haemophilus influenzae (H. influenzae) has evolved as a prominent pathogen, with nontypeable strains (NTHi) emerging as a leading cause of invasive disease, particularly among the elderly. Since the introduction of Haemophilus influenzae B (Hib) vaccine, invasive infection has shifted from children with Hib to the elderly with NTHi. NTHi affects those primarily with predisposing factors such as an immunocompromised state, CSF leakage, or ENT infections. We present two cases that emphasize the shift of invasive infection, risk factors, and elevated intracranial pressure (ICP) as a complication. Case 1. A 75-year-old female with a sudden onset of weakness and respiratory symptoms deteriorated rapidly. Imaging revealed mastoid effusion and ventriculitis, likely originating from otomastoiditis. Lumber puncture confirmed NTHi. ICU course complicated by elevated ICP prompted repeat lumbar puncture. The patient recovered after 8 days but not near baseline. Case 2. A 50-year-old female with altered mental status, headache, and ear pain exhibited signs of pansinusitis and pseudotumor cerebri. Elevated ICP was evident upon lumbar puncture, and NTHi was isolated in CSF and blood cultures. MRI of the brain showed prominent optic nerve sheaths and transverse sinus arachnoid granulations' concern for underlying pseudotumor cerebri. Repeat lumbar puncture or ventricular drainage was deferred after discussion with neurosurgery. Diabetes was identified as a comorbidity. The patient's condition improved after 14 days of antibiotics and dexamethasone. These cases emphasize the shifting landscape of H. influenzae meningitis, primarily driven by NTHi, especially among the elderly. Although NTHi infections were considered less invasive, recent epidemiology review indicated it as the leading cause of H. influenzae meningitis. With the increasing prevalence of NTHi and its increase in invasive patterns, it is crucial to implement vaccination strategies and develop new vaccines targeting NTHi.
Successful Management of Multiple Giant Anterior Sacral Meningoceles Through an Anterior Approach in a Patient With Marfan Syndrome: A Case Report and Literature Review
Authors: Anis Choucha, Sacha Tomczak, Nicolo Norri, Jean Hardwigsen, Henry Dufour
Journal: Cureus (2024)
Keywords: anterior sacral meningoceles, case report, csf leak, marfan, meningoceles, omental flap
MeSH terms: Case Reports

Meningoceles refer to the protrusion of meninges filled with cerebrospinal fluid (CSF) through a bone defect. There is scarce literature on the management of multiple giant anterior sacral meningoceles (ASMs). We report the case of a patient with Marfan syndrome presenting with gait disturbances and dizziness triggered by posture changes due to multiple giant ASMs. The patient was managed through an anterior approach involving a multidisciplinary team of surgeons. Care was taken to limit the persistence of CSF leak using an omental pedicled flap. This technique has only been mentioned twice in the literature for such cases. A literature review was conducted focusing on the evolution course and surgical strategy of meningoceles.
Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A
Authors: Wanjun Feng, Yanyan Cao, Ruolin Ren, Xiaohui Yang, Chunyan Cao, Hongwei Jiang, Ganqin Du
Journal: Front Genet (2024)
Keywords: capn3, autosomal recessive disorder, gene splicing, limb-girdle muscular dystrophy type 2a, progressive muscle weakness and wasting
MeSH terms: Case Reports

Limb-girdle muscular dystrophy type 2A (LGMD R1 Calpain 3-Related, LGMD2A/R1), an autosomal recessive disorder, is characterized by progressive muscle weakness with a prominent presentation in the proximal limb girdle muscles. LGMD2A/R1, which is caused by variants in calcium-activated neutral proteinase 3 (CAPN3), is the most common. The present study aimed at identifying the clinically significant variants in a Chinese family with LGMD2A/R1 and exploring the genotype-phenotype correlations. Clinical symptoms, laboratory findings, and physical examinations were obtained. Genomic DNA was extracted from the peripheral blood samples of this family. Whole-exome sequencing (WES) and Sanger sequencing were used to explore and validate the pathogenic genes. In this study, the proband and his sister, who had two identical mutations in the CAPN3 gene sequence, exhibited diverse clinical features, including disease onset and progression. The mutation c.2120 A>G (p. D707G) is pathogenic and has been reported in the Human Gene Mutation Database (HGMD) and the ClinVar database. c.1783-72 C>G may be a novel pathogenic mutation of LGMD2A/R1 based on the American College of Medical Genetics (ACMG) guidelines, which widens the gene variant pool in CAPN3 and improves diagnosis and genetic counseling.
Giant coronary aneurysm in a toddler with Kawasaki disease: technical challenges in CT coronary angiography
Authors: Yan Hei Chan, Catherine Yee Man Young, Ki Wang, Enoch C T So, Winnie C W Chu
Journal: BJR Case Rep (2023)
Keywords: ctca, giant coronary artery aneurysm, kawasaki disease
MeSH terms: Case Reports

Kawasaki disease is the most common vasculitis causing acquired coronary artery aneurysm (CAA) and affects mostly children. Computed tomography coronary angiography (CTCA) has unique diagnostic and prognostic values in cases of giant CAA. Here, we report technical challenges encountered when performed CTCA for a case of Kawasaki disease complicated with giant CAA. In particular, there was significant flow alteration caused by the giant CAA(s) causing suboptimal enhancement when the standard protocol was applied. We share our experience in optimizing the scan and propose the use of either manual bolus tracking or test bolus technique in similar scenarios, as well as multidisciplinary approach to optimize patient preparation.
Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction
Authors: Jun He, Ahmad Mahmoudi, Yu Gu, Jinfeng Fu, Qiulin Yuan, Wei Liu
Journal: Front Genet (2024)
Keywords: eya1 gene mutation, branchiootic syndrome, case report, secretory otitis media, vestibular hypofunction, whole exome sequencing
MeSH terms: Case Reports

Branchiootic syndrome (BOS) is a rare, autosomal dominant syndrome characterized by malformations of the ear associated with hearing loss, second branchial arch anomalies, and the absence of renal anomalies. Herein, we report the case of an 8-year-old male patient with BOS. The proband also experiences mixed conductive and sensorineural hearing loss in the right ear, and severe-to-profound sensorineural hearing loss in the left ear. Preauricular pits, branchial fistulae, and cochlear hypoplasia were present bilaterally. Type III cup-shaped ear, and external auditory canal stenosis were detected in the right ear. Lateral semicircular canal-vestibule dysplasia was detected in the left ear. Moreover, the patient had unilateral secretory otitis media (SOM) in the right ear and bilateral vestibular hypofunction (VH), which has not been reported in previous studies. The patient's hearing on the right side was restored to nearly normal after myringotomy. Whole exome sequencing identified a novel frameshift mutation in EYA1 (NM_000503.6): c.1697_1698delinT [p.(Lys566IlefsTer73)] in the proband, which was defined a "pathogenic" mutation according to American College of Medical Genetics and Genomics guidelines. This is the first report of a child presenting with BOS, SOM and VH, which expands the known clinical manifestations of this syndrome. We also observed a novel EYA1 gene mutation in this patient with BOS, which enriches the mutation map and provides a reference for genetic diagnosis of this syndrome.
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
Authors: Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D'Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
Journal: Front Neurol (2024)
Keywords: acta1, case report, glycogen storage, nemaline myopathy, skeletal muscle rods
MeSH terms: Case Reports

Background:
Congenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations. The course also varies broadly resulting in a fatal outcome in the most severe cases but can either be benign or lead to an amelioration even in severe presentations. Muscle biopsy analysis is crucial for the identification of pathognomonic morphological features, such as core areas, nemaline bodies or rods, nuclear centralizations and congenital type 1 fibers disproportion. However, multiple abnormalities in the same muscle can be observed, making more complex the myopathological scenario.
Case presentation:
Here, we describe an Italian newborn presenting with severe hypotonia, respiratory insufficiency, inability to suck and swallow, requiring mechanical ventilation and gastrostomy feeding. Muscle biopsy analyzed by light microscopy showed the presence of vacuoles filled with glycogen, suggesting a metabolic myopathy, but also fuchsinophilic inclusions. Ultrastructural studies confirmed the presence of normally structured glycogen, and the presence of minirods, directing the diagnostic hypothesis toward a nemaline myopathy. An expanded Next Generation Sequencing analysis targeting congenital myopathies genes revealed the presence of a novel heterozygous c.965 T > A p. (Leu322Gln) variant in the ACTA1 gene, which encodes the skeletal muscle alpha-actin.
Conclusion:
Our case expands the repertoire of molecular and pathological features observed in actinopathies. We highlight the value of ultrastructural examination to investigate the abnormalities detected at the histological level. We also emphasized the use of expanded gene panels in the molecular analysis of neuromuscular patients, especially for those ones presenting multiple bioptic alterations.