OpenMed/multicare-articles huggingface dataset:
Unveiling the domino effect: a nine-year follow-up on pentalogy of central nervous system induced by a large unruptured cerebral arteriovenous malformation: a case report and literature review
Authors: Yunsen He, Ye Tao, Jing Tian, Mingbin Bao, Mengjun Zhang, Qinjiang Huang, Hongliang Li, Xinxin Chang, Kun Li, Ping Liu, Lili Guo, Xiaohong Qin, Caiquan Huang, Bo Wu
Journal: Front Neurol (2024)
Keywords: cerebral arteriovenous malformation, empty sella, hydrocephalus, optic disc edema, scoliosis, secondary chiari malformation, syringomyelia, ventriculo-peritoneal shunt
MeSH terms: Case Reports

Background:
The disruption of intracranial fluid dynamics due to large unruptured cerebral arteriovenous malformation (AVM) commonly triggers a domino effect within the central nervous system. This phenomenon is frequently overlooked in prior clinic and may lead to catastrophic misdiagnoses. Our team has documented the world's first case of so-called AVM Pentalogy (AVMP) induced by a AVM.
Clinical presentation and result:
A 30-year-old female was first seen 9 years ago with an occasional fainting, at which time a huge unruptured AVM was discovered. Subsequently, due to progressive symptoms, she sought consultations from several prestigious neurosurgical departments in China, where all consulting neurosurgeons opted for conservation treatment due to perceived surgical risks. During the follow-up period, the patient gradually presented with hydrocephalus, empty sella, secondary Chiari malformation, syringomyelia, and scoliosis (we called as AVMP). When treated in our department, she already displayed numerous symptoms, including severe intracranial hypertension. Our team deduced that the hydrocephalus was the primary driver of her AVMP symptoms, representing the most favorable risk profile for intervention. As expected, a ventriculoperitoneal shunt successfully mitigated all symptoms of AVMP at 21-months post-surgical review.
Conclusion:
During the monitoring of unruptured AVM, it is crucial to remain vigilant for the development or progression of AVMP. When any component of AVMP is identified, thorough etiological studies and analysis of cascade reactions are imperative to avert misdiagnosis. When direct AVM intervention is not viable, strategically addressing hydrocephalus as part of the AVMP may serve as the critical therapeutic focus.
Cystic duct disimpaction for acute cholecystitis in the high-risk cholecystectomy patient: Case report
Authors: Humzah Iqbal, Aalam Sohal, Kanana Aburayyan, Bandhul Hans, Juliana Yang
Journal: SAGE Open Med Case Rep (2024)
Keywords: acute cholecystitis, ercp, choledocholithiasis, cystic duct
MeSH terms: Case Reports

Acute cholecystitis is a common cause of Emergency Department presentation and hospital admission. It is usually treated with early surgical removal of the gallbladder; however, some patients may not be fit to undergo the procedure due to critical illness or comorbidities. In these patients, options are limited. Endoscopic retrograde cholangiopancreatography interventions in this population are not well-studied. We present a case of a high-risk 59 year old female patient with a history of end-stage renal disease, heart failure, hypertension, pulmonary hypertension, and type 2 diabetes who presented with acute cholecystitis. She was successfully treated with cystic duct disimpaction without stenting, and continues to do well post-procedure with complete resolution of symptoms and abnormal lab findings.
Hepatobiliary-Specific MRI Contrast Agent Detection of Subvesical Duct (Luschka's) Injury Post-Laparoscopic Cholecystectomy: A Case Report
Authors: Ahmet Bozer
Journal: J Belg Soc Radiol (2024)
Keywords: bile duct injury, gadolinium dtpa, luschka’s duct, mri, contrast agent
MeSH terms: Case Reports

Post-laparoscopic cholecystectomy bile duct injuries, especially involving Luschka's duct, are concerning. Biliary tree anomalies and the efficacy of intravenous administration of Gd-EOB-DTPA-enhanced magnetic resonance imaging (MRI) in detecting bile leakage are reported based on a case. Teaching Point: Hepatobiliary-specific MRI-contrast agents prove valuable for noninvasive assessment of bile leakage after cholecystectomy.
Delusional Parasitosis in Comorbidity With Shared Paranoid Disorder in a Marriage
Authors: Jonatan Escobar-Herrera, Gibran Raymundo León-Gallegos, Omar E Valencia-Ledezma, Rafael García-Rascon, Nicolás Santiago-González
Journal: Case Rep Psychiatry (2024)
Keywords: case report, delusional parasitosis, ekbom syndrome, folie à deux, shared paranoid disorder
MeSH terms: Case Reports

Delusional parasitosis is a psychotic disorder where the patient has the delusion of being infested with some insect or parasite. In contrast, shared paranoid disorder or folie à deux is described when the same delusions affect two or more closely related people. It is common for these two situations to cause comorbidity in the family unit. This case report concerns a couple married for 37 years. The husband described that 2 years ago, he began with a tingling sensation throughout his body, related to the presence of parasites coming out from all his body orifices, with no evidence of self-harm. Likewise, the wife reported symptoms of formication and the feeling that there were invisible animals, as mentioned by her husband, and that she felt the parasites running throughout her body. The husband was diagnosed with endoparasitic delusional parasitosis, which caused folie à deux in his wife due to ectoparasitic parasitosis. The patient's treatment included sertraline and risperidone in oral dosage lasting 3 months reducing delirium, later biperidene was prescribed due to main treatment's side effects such as akathisia and sialorrhea, however the patient could not take the medication due to economic reasons. The wife was asked to sleep in a separate room, and she reported that the sensory hallucinations disappeared as soon as she slept in a different room. We conclude that the pharmacological approach, the intervention in the family life, and the gradual reintegration of marital habits once the patient improves are crucial in the therapy of delusional disorder.
Case report: Pyrotinib and tegafur combined with radiotherapy achieved notable response in HER2-amplified rectal cancer with multiple metastases after multiline treatments
Authors: Peng Huang, Feng Wen, Xin Wang
Journal: Front Pharmacol (2024)
Keywords: her2, multiline treatments, pyrotinib, radiotherapy, rectal cancer
MeSH terms: Case Reports

Metastatic colorectal cancer (mCRC) is characterized by significant phenotypic heterogeneity at the molecular level and presents a poor prognosis. Chemotherapy is commonly employed as the primary treatment option. Nevertheless, the advantages of chemotherapy are constrained, underscoring the critical necessity for novel treatment protocols aimed at enhancing patient outcomes. Human epidermal growth factor receptor 2 (HER2) has been recognized as a promising therapeutic target in mCRC. Pyrotinib, an innovative irreversible dual tyrosine kinase inhibitor targeting HER2, effectively inhibits cancer progression in various types of human cancers. Here, we present a case of a 39-year-old female with metastatic rectal cancer showing amplification of HER2. Despite resistance to multiple therapies, including trastuzumab and pertuzumab, the patient exhibited a remarkable therapeutic response to pyrotinib, tegafur combined with radiotherapy. This case provides evidence for the feasibility and potential efficacy of deploying pyrotinib in the salvage treatment of mCRC patients with HER2 amplification even though resistant to other anti-HER2 drugs.
Chemotherapy-induced tubulopathy: a case report series
Authors: Mario Alamilla-Sanchez, Juan Daniel Diaz Garcia, Valeria Yanez Salguero, Fleuvier Morales Lopez, Victor Ulloa Galvan, Francisco Velasco Garcia-Lascurain, Benjamin Yama Estrella
Journal: Front Nephrol (2024)
Keywords: electrolyte abnormalities, nephrotoxicity, onconephrology, platinum, tubulopathy
MeSH terms: Case Reports

Acquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction. These tubulopathies phenotypically can resemble Bartter or Gitelman syndrome). These syndromes are infrequent, they may present salt loss resembling the effect of thiazides (Gitelman) or loop diuretics (Bartter). They are characterized by potentially severe hypokalemia, associated with metabolic alkalosis, secondary hyperaldosteronism, and often hypomagnesemia. Tubular dysfunction has been described as nephrotoxic effects of platinum-based chemotherapy. We present 4 cases with biochemical signs of tubular dysfunction (Bartter-like/Gitelman-like phenotype) related to chemotherapy.
Laser interstitial thermal therapy is effective and safe for the treatment of brain tumors in NF1 patients after cerebral revascularization for moyamoya angiopathy: a report on two cases
Authors: Lelio Guida, Kevin Beccaria, Sandro Benichi, Manoelle Kossorotof, Olivier Naggara, Marie Bourgeois, Franck Bourdeaut, Samuel Abbou, Volodia Dangouloff-Ros, Nathalie Boddaert, Thomas Blauwblomme
Journal: Front Neurol (2023)
Keywords: case report, laser interstitial thermal therapy (litt), moyamoya, oncology, pediatrics, revascularization
MeSH terms: Case Reports

Background:
The co-occurrence of moyamoya vasculopathy and extra-optic pathway tumors is rare in neurofibromatosis type 1 (NF1), with only four cases described in the literature. Brain surgery in these patients may be challenging because of the risk of brain infarction after skin and dural incision. Given its percutaneous and minimally invasive nature, laser interstitial thermal therapy (LITT) is an ideal option for the treatment of brain tumors in these patients. Here, we report on two patients with NF1 and moyamoya syndrome (MMS) treated for a brain glioma with LITT, after cerebral revascularization.
Cases:
The first patient, with familial NF1, underwent bilateral indirect revascularization with multiple burr holes (MBH) for symptomatic MMS. Two years later, she was diagnosed with a left temporal tumor, with evidence of radiologic progression over 10 months. The second patient, also with familial NF1, developed unilateral MMS when he was 6 years old and was treated with MBH. At the age of 15 years, MRI showed a right cingular lesion, growing on serial MRIs. Both patients underwent LITT with no perioperative complications; they are progression free at 10 and 12 months, respectively, and the tumors have decreased in volume.
Discussion:
While the association of extra-optic neoplasm and moyamoya angiopathy is seldom reported in NF1, tumor treatment is challenging in terms of both avoiding stroke and achieving oncological control. Here, we show in 2 cases, that LITT could be a safe and effective option in these rare conditions.
Case Report: The acute appendicitis and incarcerated umbilical hernia: a rare association
Authors: Letizia Corbi, Simone Frediani, Ivan Pietro Aloi, Arianna Bertocchini, Antonella Accinni, Valerio Pardi, Alessandro Inserra
Journal: Front Pediatr (2024)
Keywords: acute abdominal, appendicitis, children, peritonitis, umbilical hernia
MeSH terms: Case Reports

Introduction:
One of the most prevalent congenital wall abnormalities in children, umbilical hernias are often linked to premature or small-for-gestational-age babies. In cases of intestinal malrotation or if the cecum is very movable, generalized peritonitis may facilitate the imprisonment of these hernias.
Case report:
We described a case of a 4-month-old baby who had a prior reducible umbilical hernia with a history of fever, vomiting, poor appetite, and constipation for around 48 h. The patient experienced significant intestinal bloating, vomiting, irreducibility of the umbilical hernia, skin pigmentation, and erythema at the umbilical site within 2 days after hospitalization. When there was no free abdominal air, a direct abdominal x-ray revealed evidence of hydro-gas stasis and various hydro-aerial levels that were pertinent to the ileum. In order to reduce the hernia, the patient had an emergency surgical treatment where the hernia sac was isolated and released from the ileal loop, which was securely attached to a fibrin plate. When the herniary sac was opened, a gangrenous and perforated appendix was found inside. On the seventh postoperative day, the patient was released from the hospital after an uncomplicated postoperative stay.
Conclusion:
Our patient's clinical presentation is similar to that of only one other case report involving a 25-day-old male patient. Our case presented with a variant of the clinical symptoms of the previously described umbilical hernia, which became unfixable and strangulated as a result of appendix inflammation. The appendix was discovered inside the hernia sac during surgery.
Functional MRI evaluation of hyperbaric oxygen therapy effect on hand motor recovery in a chronic post-stroke patient: a case report and physiological discussion
Authors: Merav Catalogna, Amir Hadanny, Yoav Parag, Moran Adler, Vicktoria Elkarif, Shai Efrati
Journal: Front Neurol (2023)
Keywords: hbot, brain connectivity, fmri, rehabilitation, stroke, upper extremity
MeSH terms: Case Reports

Introduction:
Impairments in activities of daily living (ADL) are a major concern in post-stroke rehabilitation. Upper-limb motor impairments, specifically, have been correlated with low quality of life. In the current case report, we used both task-based and resting state functional MRI (fMRI) tools to investigate the neural response mechanisms and functional reorganization underlying hyperbaric oxygen therapy (HBOT)-induced motor rehabilitation in a chronic post-stroke patient suffering from severe upper-limb motor impairment.
Methods:
We studied motor task fMRI activation and resting-state functional connectivity (rsFC) in a 61-year-old right-handed male patient who suffered hemiparesis and physical weakness in the right upper limb, 2 years after his acute insult, pre- and post-treatment of 60 daily HBOT sessions. Motor functions were assessed at baseline and at the end of the treatment using the Fugl-Meyer assessment (FMA) and the handgrip maximum voluntary contraction (MVC).
Results:
Following HBOT, the FMA score improved from 17 (severe impairment) to 31 (moderate impairment). Following the intervention during trials involving the affected hand, there was an observed increase in fMRI activation in both the supplementary motor cortex (SMA) and the premotor cortex (PMA) bilaterally. The lateralization index (LI) decreased from 1 to 0.63, demonstrating the recruitment of the contralesional hemisphere. The region of interest, ROI-to-ROI, analysis revealed increased post-intervention inter-hemispheric connectivity (P = 0.002) and a between-network connectivity increase (z-score: 0.35 ± 0.21 to 0.41 ± 0.21, P < 0.0001). Seed-to-voxel-based rsFC analysis using the right SMA as seed showed increased connectivity to the left posterior parietal cortex, the left primary somatosensory cortex, and the premotor cortex.
Conclusion:
This study provides additional insights into HBOT-induced brain plasticity and functional improvement in chronic post-stroke patients.
Removal of Six Esophageal Metals in a Four-Month-Old Infant: A Rare Case
Authors: Vikas Jain Sr, Riya Jain, Rishabh Jain, Anshuman Chauhan, Nitin Kotwal
Journal: Cureus (2024)
Keywords: choking, diagnosis, endoscopy, esophagus, foreign body, infant
MeSH terms: Case Reports

This case report details the distinctive and demanding clinical situation involving a four-month-old female neonate. Her chief complaint was a two-day refusal to consume food orally, accompanied by episodes of vomiting following feedings and a sensation of choking in the throat. The referring physician suspected the presence of a foreign body in the patient's esophagus and advised a chest X-ray following a thorough examination. The presence of six hyperdense metallic foreign bodies in the upper, mid, and distal dorsal esophagus was confirmed by subsequent CT thorax imaging. This case was managed through the implementation of a multidisciplinary strategy. A decision was reached to conduct an endoscopic assessment; a substantial foreign object resembling a boulder was detected throughout the procedure, resulting in total obstruction of the esophageal lumen. Despite some challenges, this foreign object was effectively extracted by utilizing a Dormia basket. After that, endoscopy was used to detect five more metallic foreign bodies, all successfully eliminated endoscopically. The postoperative course was characterized by the 24-hour prophylactic Ryles tube insertion, followed by the resumption of breastfeeding. The infant's recovery and positive attitude on the second day following the operation indicate the case's successful resolution, emphasizing the criticality of a timely intervention in similar circumstances. This report underscores the clinical management and treatment of multiple metallic foreign bodies in a pediatric patient while also stressing the importance of prompt diagnosis and interprofessional collaboration in complex and exceptional cases.
Retropharyngeal abscess with mediastinal extension - A mausoleum of mumps: A case report
Authors: Benazir Begum R, Vivek Sanker, Nabeela Fatima, Vyshnav Rajagopal Menon, Lokesh Koumar Sivanandam, Tirth Dave
Journal: IDCases (2024)
Keywords: antibiotics, intra-oral drainage, mumps, pediatrics, retropharyngeal abscess
MeSH terms: Case Reports

Introduction:
Retropharyngeal abscess is a fatal infection that is uncommon, yet serious, especially in young children below 5 years. Oropharyngeal infections, in particular, can cause it as a complication of upper respiratory infections. They can also lead to respiratory depression and acute upper airway blockage and other complications.
Case presentation:
The unusual case of large retropharyngeal abscess in a 2-year-old child, secondary to mumps infection who presented to us with impending airway compromise is reported.
Discussion:
Retropharyngeal abscess secondary to mumps is a rare occurrence.The child initially had a bilateral parotid enlargement with fever and upper respiratory tract infection, which was diagnosed clinically as mumps by primary care physician and later confirmed by IgM antibody testing. The child was initially treated conservatively as the symptoms were mild at the beginning, however, the child worsened progressively and presented o our institute with acute retropharyngeal abscess in stridor. Emergency tracheostomy and intraoral abscess drainage were done under general anesthesia followed by appropriate intravenous antibiotics therapy.
Conclusion:
A dramatic recovery was observed following the treatment approach. Although it is rare to see such a large RPA in this antibiotic era, it is imperative to maintain a high index of suspicion.
Anorectal balloon cell melanoma: a rare variant
Authors: Priyanka Sameer, Pallavi Srivastava, Saumya Shukla, Nuzhat Husain
Journal: Autops Case Rep (2023)
Keywords: abdomen, balloon cell melanoma, immunohistochemistry, rectal neoplasms
MeSH terms: Case Reports

Balloon cell melanoma is a rare presentation of malignant melanoma, usually on the skin, with less than 100 cases reported. Mucosal BCM is even rarer, with only one case of anorectal BCM reported in English literature. The diagnosis is based on the histopathologic findings of a tumor composed of large, foamy melanocytes, with or without pigmentation, and confirmed by immunohistochemical studies showing expression for melanocytic markers. The foam cell appearance of the tumor cells and the lack of melanin pigment lead to a diagnostic dilemma, mostly when presented at an unusual location. Herein, we report a case of balloon cell melanoma at the anorectal junction in a 73-year-old male patient complaining of constipation and bleeding per rectum. Surgical resection was performed with no evidence of recurrence after three years of close follow-up. We believe this case will raise awareness among the medical community to consider this tumor a differential diagnosis in rectal masses.
Case report: Episodic ataxia without ataxia?
Authors: Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Francesca Sanguineri, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Paola Mandich
Journal: Front Neurol (2023)
Keywords: hspg2, ubr4, episodic ataxia, genetic modifiers, genetic testing, hereditary myopathies
MeSH terms: Case Reports

Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Genetic testing is often challenging due to ambiguous clinical diagnosis. Here, we present the case of a family with clinical and Electromyography (EMG) features resembling a myotonia-like disorder in which Whole Exome Sequencing (WES) analysis revealed the co-segregation of two rare missense variants in UBR4 and HSPG2, genes previously associated with episodic ataxia 8 (EA8). A review of the literature highlighted a striking overlap between the clinical and the molecular features of our family and the previously described episodic ataxias (EAs), which raises concerns about the genotype-phenotype correlation, clinical variability, and the confounding overlap in these groups of disorders. This emphasizes the importance of thoroughly framing the patient's phenotype. The more clear-cut the diagnosis, the easier the identification of a genetic determinant, and the better the prognosis and the treatment of patients.
Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature
Authors: Zhengxia Liu, Shuxia Ding, Guangwei Xu, Chunyan Fang
Journal: Front Pediatr (2024)
Keywords: prr12, intellectual disability, neurodevelopmental disorder, short stature, whole exome sequencing
MeSH terms: Case Reports

Proline Rich 12 (PRR12) protein is primarily expressed in the brain and localized in the nucleus. The variants in the PRR12 gene were reported to be related to neuroocular syndrome. Patients with PRR12 gene presented with intellectual disability (ID), neuropsychiatric disorders, some congenital anomalies, and with or without eye abnormalities. Here, we report an 11-year-old boy with a novel PRR12 variant c.1549_1568del, p.(Pro517Alafs*35). He was the first PRR12 deficiency patient in China and presented with ID, short stature, and mild scoliosis. He could not concentrate on his studies and was diagnosed with attention deficit hyperactivity disorder (ADHD). The insulin-like growth factor 1 (IGH-1) was low in our patient, which may be the cause of his short stature. Patients with neuroocular syndrome are rare, and further exploration is needed to understand the reason for neurodevelopmental abnormalities caused by PRR12 variants. Our study further expands on the PRR12 variants and presents a new case involving PPR12 variants.
Canine acquired pneumonia caused by Bordetella bronchiseptica
Authors: Luis Lantigua Tatem, Todd Veale, Christopher Richardson, Tracy Luckhardt
Journal: IDCases (2023)
Keywords: bordetella bronchiseptica, dog, hiv, pneumonia, zoonosis
MeSH terms: Case Reports

Here, we present the case of a 55-year-old male with HIV and persistent lymphopenia who developed a paroxysmal severe cough for over three weeks. Microbiology studies were positive for abundant colonies of Bordetella bronchiseptica. He reports that his dog was also ill with a severe cough, suggesting a possible canine-to-human transmission. This zoonosis has been increasingly recognized and possesses significant morbidity and mortality, especially in immunocompromised hosts.