OpenMed/multicare-articles huggingface dataset:
Resting-state functional connectivity and cortical thickness characterization of a patient with Charles Bonnet syndrome
Authors: Charlotte Martial, Stephen Karl Larroque, Carlo Cavaliere, Sarah Wannez, Jitka Annen, Ron Kupers, Steven Laureys, Carol Di Perri
Journal: PLoS One (2019)
MeSH terms: Cerebral Cortex / physiology, Charles Bonnet Syndrome / physiopathology, Nerve Net / physiology, Rest / physiology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Aged, Aged, 80 and over, Cerebral Cortex / diagnostic imaging, Charles Bonnet Syndrome / diagnostic imaging, Charles Bonnet Syndrome / psychology, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged

Charles Bonnet syndrome (CBS) is a rare condition characterized by visual impairment associated with complex visual hallucinations in elderly people. Although studies suggested that visual hallucinations may be caused by brain damage in the visual system in CBS patients, alterations in specific brain regions in the occipital cortex have not been studied. Functional connectivity during resting-state functional magnetic resonance imaging (rs-fMRI; without hallucinations) in CBS patients, has never been explored. We aimed to investigate brain structural and functional changes in a patient with CBS, as compared with late blind (LB) and normally sighted subjects. We employed voxel-based morphometry and cortical thickness analyses to investigate alterations in grey matter characteristics, and rs-fMRI to study changes in functional brain connectivity. Decreased grey matter volume was observed in the middle occipital gyrus and in the cuneus in the CBS patient, and in the middle occipital gyrus and in the lingual gyrus within LB subjects, compared to their respective control groups. Reductions in cortical thickness in associative and multimodal cortices were observed in the CBS patient when comparing with LB subjects. The precuneus exhibited increased functional connectivity with the secondary visual cortex in the CBS patient compared to the controls. In contrast, LB patients showed decreased functional connectivity compared to sighted controls between the DMN and the temporo-occipital fusiform gyrus, a region known to support hallucinations. Our findings suggest a reorganization of the functional connectivity between regions involved in self-awareness and in visual and salience processing in CBS that may contribute to the appearance of visual hallucinations.
Primary Sphenoidal Sinus Lymphoma with Initial Presentation as Unilateral Abducens Nerve Palsy Symptom
Authors: Xijing Mao, Lifang Jin, Bochi Zhu, Honghua Cui, Min Yao, Gang Yao
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

A 48-year-old man presented with 3 days of mild horizontal diplopia in the left direction, followed by the onset of headache 17 days later. A physical examination revealed isolated left abducens nerve palsy. Head computed tomography (CT) and magnetic resonance imaging (MRI) scans revealed soft-tissue density neoplasms that occupied the sphenoidal sinus and further invaded to destroy the clivus. Immunohistochemical staining of neoplasms was performed from biopsies samples. The pathological diagnosis was extranodal natural killer (NK)/T-cell lymphoma (ENKL), nasal type, associated with Epstein-Barr virus (EBV). The patient subsequently exhibited secondary symptoms (fever, night sweats), enlarged lymph nodes, renal metastases, and hemophagocytic syndrome, with clinical diagnosis stage IV of ENKL. The patient has a poor prognosis. This report is unique in two aspects: the unilateral abducens nerve palsy as the initial and isolated symptom of ENKL, and the primary sphenoidal sinus ENKL.
Case Report: Prune perineum syndrome: a rare case with an unfavourable outcome
Authors: Roberto I Lopes, Francisco T Dénes, Gustavo B Messi, Marcos G Machado
Journal: F1000Res (2016)
Keywords: prune perineum syndrome, congenital disease, pelvic malformations, urinary tract

Prune perineum syndrome (PPS) is a rare anomaly, with only two previous case reports, both dying in the perinatal period. We report the first case of PPS that reached childhood. The patient presented with a hypoplastic genitalia and bilateral cryptorchidism. There was no evidence of an anal orifice. A significant prune-like mass was observed, extending from the perineum to both gluteal regions and to a cephalic mid-line bony prominence, with a 1cm central orifice that discharged urine. MRI confirmed the previous findings and revealed a right crossed ectopic kidney, intestinal malrotation, a hypoplastic infrarenal inferior vena cava and a hypoplastic right iliac artery. Endoscopic evaluation through the orifice revealed a cavity lined by urothelial mucosa, with a small communication to the anterior urethra in its anterior wall. A staged reconstruction was planned, with a first-step urinary diversion through a continent abdominal reservoir associated to bilateral orchiopexy. He was discharged from the hospital three weeks later under intermittent catheterization. The next surgical step would be the resection of the perineal mass and its cavity associated to the removal of the prominent sacrococcygeal bones. Unfortunately, four months after the first surgery the patient developed an acute abdomen and was submitted to a laparotomy that revealed a necrotic ileal segment secondary to obstructive adherences. He developed severe malabsorption followed by septic shock, dying five weeks after the procedure. Due to the lack of literature, there is no consensus for the management of these cases. The wish of the family for a better quality of life and social acceptance, compelled us to perform a urinary diversion, to be followed by a plastic and orthopedic reconstruction. Despite the successful initial result, the patient developed a late abdominal obstruction that was misdiagnosed, precipitating his untimely death five months after the first procedure.
Kocher-debre-semelaigne syndrome: hypothyroid muscular pseudohypertrophy-a rare report of two cases
Authors: Chandan Shaw, Prachi Shaw
Journal: Case Rep Endocrinol (2012)
MeSH terms: Case Reports

Kocher-Debre-Semelaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism in the pediatric age group. It may be confused with primary muscle disorders, lest one is cautious enough to investigate for hypothyroidism. The striking clinical features, availability of a simple treatment and a good prognosis for the condition makes it worthwhile to report the case so that all practitioners be aware of the condition and its management.
Spinal hydatidosis mimicking Guillain Barre syndrome: in case of doubt there is no rush to perform lumbar puncture
Authors: Ahmed Belkouch, Abdelilah Mouhsine, Rachid Sirbou, Saad Zidouh, Taoufik Bakkali, Abdelghani El Fikri, Lahcen Belyamani
Journal: Pan Afr Med J (2014)
Keywords: guillain barre syndrome, lumbar puncture, spinal hydatidosis
MeSH terms: Echinococcosis / diagnosis, Guillain-Barre Syndrome / diagnosis, Spinal Diseases / diagnosis, Spinal Diseases / parasitology, Spinal Puncture / statistics & numerical data, Case Reports, Adult, Diagnosis, Differential, Echinococcosis, Hepatic / diagnosis, Female, Humans, Magnetic Resonance Imaging, Spinal Cord Compression / diagnosis, Spinal Cord Compression / parasitology

Guillain Barre Syndrome (GBS) is a challenging pathology which diagnosis is based essentially on the clinical examination and the results of lumbar puncture. Differential diagnosis must be discussed if the clinical picture is not complete. We present the case of a patient who presented to the emergency department with symptoms evoking both GBS and spinal cord compression. The Radiology showed a diffused spinal hydatidosis. The lumbar puncture must be carefully considered. In this case, it would have exposed the patient to hydatid dissemination.
Uncommon Association of Two Anatomical Variants of Cerebral Circulation: A Fetal-Type Posterior Cerebral Artery and Inferred Artery of Percheron, Complicated with Paramedian Thalamomesencephalic Stroke-Case Presentation and Literature Review
Authors: Aurelian Anghelescu
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Background:
The unilateral fetal variant of the posterior cerebral artery (FPCA) is characterized by the congenital absence of the P1 arterial segment. The artery of Percheron (AOP) is an uncommon vascular variant, in which a single dominant thalamoperforating arterial trunk arises from one P1 segment, bifurcates, and provides bilateral supply to the paramedian thalami and rostral midbrain.
Case presentation:
This is a retrospective case study of a 37-year-old man with multiple lifestyle risk factors (chronic marijuana and tobacco abuse), who suffered a thalamomesencephalic stroke, rapidly worsening to comatose state. After restoration of consciousness, he clinically manifested with left paramedian midbrain syndrome. Imaging demonstrated an asymmetric paramedian thalamic infarction with mesencephalon extension, patency of the basilar, vertebral arteries, and left PCA and right-sided FPCA, respectively. Left-sided thalamoperforating arterioles were not differentiated; AOP was inferred. Neither evident clinical source of embolus nor prothrombotic states were found. Mobile cardiac telemetry and transesophageal echocardiography were not available. The diagnosis was established too late for thrombolytic treatment. Anticoagulation was indicated during the acute and subacute stages, followed by low dose of antiplatelet.
Discussion:
This uncommon cerebrovascular configuration (FPCA+AOP) might be the fourth case described in the literature. Sustained rehabilitation and abstinence from tobacco and cannabis led to favorable outcomes.
A Case Study of Stevens-Johnson Syndrome-Toxic Epidermal Necrolysis (SJS-TEN) Overlap in Mycoplasma pneumoniae-Associated Tracheobronchitis
Authors: Ranjit Sah, Samikshya Neupane, Shusila Khadka, Sagar Poudyal, Hem Raj Paneru, Ranjana Sah, Sanjit Sah, Vivek Pant
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Stevens-Johnson syndrome is a medical emergency which is characterized by skin and mucosal reaction to the use of certain drugs. Atypical Steven-Johnson syndrome can occur due to various microorganisms and Mycoplasma pneumoniae being one of them. We present a clinical course, diagnosis, and successful management of Steven-Johnson syndrome-toxic epidermal necrolysis (SJS-TEN) overlap due to Mycoplasma pneumoniae in a 17-year-old Nepalese female. In the resource-limiting country and hospitals where serology and PCR for M. pneumoniae is not easily accessible, a simple bedside cold agglutination test can be done to increase the suspicion of infectious cause (most common M. pneumoniae ) of SJS-TEN overlap. M. pneumoniae infection should be considered in all cases of mucositis, especially in patients having preceding respiratory tract infections (tracheobronchitis).
Life-Threatening Docetaxel Toxicity in a Patient With Reduced-Function CYP3A Variants: A Case Report
Authors: Nicholas R Powell, Tyler Shugg, Reynold C Ly, Costantine Albany, Milan Radovich, Bryan P Schneider, Todd C Skaar
Journal: Front Oncol (2022)
Keywords: cyp3a4, docetaxel, case report, pharmacogenetics, pneumonitis
MeSH terms: Case Reports

Docetaxel therapy occasionally causes severe and life-threatening toxicities. Some docetaxel toxicities are related to exposure, and inter-individual variability in exposure has been described based on genetic variation and drug-drug interactions that impact docetaxel clearance. Cytochrome P450 3A4 (CYP3A4) and CYP3A5 metabolize docetaxel into inactive metabolites, and this is the primary mode of docetaxel clearance. Supporting their role in these toxicities, increased docetaxel toxicities have been found in patients with reduced- or loss-of-function variants in CYP3A4 and CYP3A5. However, since these variants in CYP3A4 are rare, little is known about the safety of docetaxel in patients who are homozygous for the reduced-function CYP3A4 variants. Here we present a case of life-threatening (grade 4) pneumonitis, dyspnea, and neutropenia resulting from a single dose of docetaxel. This patient was (1) homozygous for CYP3A4*22, which causes reduced expression and is associated with increased docetaxel-related adverse events, (2) heterozygous for CYP3A4*3, a rare reduced-function missense variant, and (3) homozygous for CYP3A5*3, a common loss of function splicing defect that has been associated with increased docetaxel exposure and adverse events. The patient also carried functional variants in other genes involved in docetaxel pharmacokinetics that may have increased his risk of toxicity. We identified one additional CYP3A4*22 homozygote that received docetaxel in our research cohort, and present this case of severe hematological toxicity. Furthermore, the one other CYP3A4*22 homozygous patient we identified from the literature died from docetaxel toxicity. This case report provides further evidence for the need to better understand the impact of germline CYP3A variants in severe docetaxel toxicity and supports using caution when treating patients with docetaxel who have genetic variants resulting in CYP3A poor metabolizer phenotypes.
Early Bronchus-Associated Lymphoid Tissue Lymphoma Diagnosed with Immunoglobulin Heavy Chain Molecular Testing
Authors: Pen Li, Lawrence Cheung, Brian Chiu
Journal: Can Respir J (2016)
MeSH terms: Bronchial Neoplasms / diagnostic imaging, Lymphoma, B-Cell, Marginal Zone / diagnostic imaging, Case Reports, Aged, Arthritis, Rheumatoid / complications, Arthritis, Rheumatoid / drug therapy, Bronchial Neoplasms / complications, Bronchial Neoplasms / genetics, Bronchial Neoplasms / pathology, Cough / etiology, Dyspnea / etiology, Female, Gene Rearrangement, B-Lymphocyte, Heavy Chain / genetics, Humans, Immunoglobulin Heavy Chains / genetics, Infliximab / therapeutic use, Lymphoma, B-Cell, Marginal Zone / complications, Lymphoma, B-Cell, Marginal Zone / genetics, Lymphoma, B-Cell, Marginal Zone / pathology, Polymerase Chain Reaction, Sjogren's Syndrome / complications, Sjogren's Syndrome / drug therapy, Tomography, X-Ray Computed, Immunoglobulin Heavy Chains, Infliximab

When extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue (MALT), a low grade B-cell lymphoma, arises in the lung it is referred to as bronchus-associated lymphoid tissue (BALT) lymphoma. We describe a patient with a history of Sjögren's syndrome and rheumatoid arthritis with dyspnea and imaging consistent with lymphoid interstitial pneumonia (LIP). However, while histology and immunohistochemistry lacked definitive features of a lymphoma, immunoglobulin heavy chain (IgH) polymerase chain reaction testing demonstrated B-cell monoclonality, consistent with an early BALT lymphoma.
Case report: Radiofrequency ablation combined with biopsy for Cushing's syndrome due to ectopic ACTH lesions in the lung
Authors: Xiao Zhang, Liangliang Meng, Yueyong Xiao, Zenan Chen
Journal: Front Oncol (2022)
Keywords: acth, cushing’s syndrome, biopsy, ectopic, radiofrequency ablation
MeSH terms: Case Reports

Lung carcinoid tumor is one of the major tumors causing ectopic ACTH syndrome, and the most common clinical treatment is surgical resection of the lesion. We herein report a suspected pulmonary carcinoid tumor with difficulty in surgical resection and poor response to drug therapy, which was successfully treated with radiofrequency ablation combined with intraoperative biopsy of the lesion. A 48-year-old female patient, with hypercortisolism (reddening of the face, full moon face, hirsutism, acne, and weight gain) detected three months ago. Small and high-dose dexamethasone suppression tests were not suppressed, Cushing's syndrome was under consideration. PET-CT examination suggested mild FDG uptake in two nodules in the anterior basal segment of the lower lobe of the right lung, the possibility of ectopic ACTH lesions was considered because of the clinical presentation. Due to difficult surgical approach of the lesion, high risk of surgery and the patient's anxiety, CT-guided thermal ablation combined with puncture biopsy was considered to treat the lesions. Image-guided thermal ablation can effectively inactivate ectopic ACTH lesions in the lung, rapidly improve the symptoms of high cortisol, and can be combined with biopsy for pathologic diagnosis. Therefore, this technique can be considered for treating pulmonary ACTH lesions that are difficult to resect surgically.
A Challenging Diagnosis of IgG4-Related Disease When Understanding Limitations of Laboratory Testing Was Pivotal
Authors: Victoria Y Y Xu, Mary Bell, Alireza Zahirieh, Janey Hsiao, Kevin Higgins, Zeina Ghorab, Arthur Bookman, Pak Cheung Chan
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

A 76-year-old man was incidentally found on a CT scan to have lymphadenopathy and bilateral kidney enlargement suggestive of infiltrative renal disease. He was largely asymptomatic but had bilateral salivary and lacrimal gland enlargement. A grossly elevated serum IgG (>70 g/L) with concomitant suppression of other immunoglobulins, a small IgG restriction, and a parotid biopsy revealing lymphoplasmacytic infiltrate with slight kappa light chain excess all suggested a lymphoproliferative disorder (LPD). The diagnostic workup was further confounded by a normal serum IgG4 concentration. Moreover, bone marrow and renal biopsies did not reveal evidence of LPD. Discussion with the laboratory not only clarified that the markedly increased total IgG could not be accounted for by the small IgG restriction, but also identified a discrepancy in the IgG4 measurement. Repeat analysis of a follow-up sample revealed an elevated IgG4 of 5.94 (reference interval: 0.039-0.864) g/L, which prompted a repeat parotid biopsy that showed predominant IgG4+ lymphocytic infiltrates. Despite the deluding presentations, a final diagnosis of IgG4-related disease (IgG4-RD) was made based on elevated serum IgG4 concentrations and histopathological findings. This case highlights the importance of recognizing limitations of laboratory testing and the benefit of close communications among clinical subspecialties and the laboratory.
A case of supplement-induced hepatotoxicity
Authors: Fong-Kuei Frank Cheng, Peter Dunaway
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

A 45-year-old Caucasian male presented with a two-week history of jaundice and right-upper quadrant (RUQ) abdominal pain. Transaminases and biliary enzymes were markedly elevated with hyperferritinemia and mildly elevated INR. Imaging tests showed no significant abnormality. He denied prescription or over-the-counter (OTC) medication use, but he had been taking at least 9 dietary supplements for 12 months. Other causes of liver disease were excluded. His supplements were discontinued, and his liver-associated enzymes significantly markedly improved over the next 6 weeks and remained normal after one year suggesting supplement-induced hepatotoxicity. Due to the number of supplements, no specific agent could be identified as the primary cause of his liver injury. This case illustrates the importance of inquiring and educating patients of the potential harmful risks of over-the-counter medications and supplements.
Profound intraoperative metabolic acidosis and hypotension in a child undergoing multilevel spinal fusion
Authors: Mohanad Shukry, Jonathan A D'Angelo, Minal Joshi, Jorge A Cure, Alberto J de Armendi
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

The prone position may cause cardiovascular system depression. Yet, the mechanisms involved and preemptive measures are not well understood (Edgcombe et al. (2008)). During spinal surgery in the prone position, hypotension may occur. Implicated factors include prolonged abdominal compression impeding venous return resulting in increased blood loss, decreased cardiovascular reserve, and the use of total intravenous anesthesia (TIVA) which has been shown to blunt the sympathetic response more than inhalation anesthesia. We present a case of hypotension during spinal surgery with all its challenges. Hypotension and acidosis persisted despite all supporting measures, and only to improve with supine positioning. Differential diagnosis for such an event are discussed. Although abdominal compression may not be obvious before the start of surgery, compressing the spine during surgery may lead to abdominal compression and hypoperfusion to abdominal organs.
Class III Malocclusion Surgical-Orthodontic Treatment
Authors: Bruna Alves Furquim, Karina Maria Salvatore de Freitas, Guilherme Janson, Luis Fernando Simoneti, Marcos Roberto de Freitas, Daniel Salvatore de Freitas
Journal: Case Rep Dent (2014)

The aim of the present case report is to describe the orthodontic-surgical treatment of a 17-year-and-9-month-old female patient with a Class III malocclusion, poor facial esthetics, and mandibular and chin protrusion. She had significant anteroposterior and transverse discrepancies, a concave profile, and strained lip closure. Intraorally, she had a negative overjet of 5 mm and an overbite of 5 mm. The treatment objectives were to correct the malocclusion, and facial esthetic and also return the correct function. The surgical procedures included a Le Fort I osteotomy for expansion, advancement, impaction, and rotation of the maxilla to correct the occlusal plane inclination. There was 2 mm of impaction of the anterior portion of the maxilla and 5 mm of extrusion in the posterior region. A bilateral sagittal split osteotomy was performed in order to allow counterclockwise rotation of the mandible and anterior projection of the chin, accompanying the maxillary occlusal plane. Rigid internal fixation was used without any intermaxillary fixation. It was concluded that these procedures were very effective in producing a pleasing facial esthetic result, showing stability 7 years posttreatment.
Case Report: Amphiphysin Antibody-Associated Stiff-Limb Syndrome and Myelopathy: An Unusual Presentation of Breast Cancer in an Elderly Woman
Authors: Bhanu Gogia, Elena Shanina, Xiang Fang, Jing He, Xiangping Li
Journal: Front Neurol (2021)
Keywords: amphiphysin antibody, neurologic paraneoplastic syndromes, paraneoplastic myelopathy, stiff limb syndrome, stiff person syndrome
MeSH terms: Case Reports

Background: Paraneoplastic stiff-limb syndrome (SLS) is a rare manifestation of underlying malignancy and could have distinctive features different from the classic stiff-person syndrome (SPS). Case Description: We present a case of anti-amphiphysin antibody (Ab)-associated paraneoplastic SLS, in an 83-year-old woman with invasive ductal carcinoma of the breast. She presented with stiffness, painful spasms of the distal legs, and asymmetrical fixed posturing of the foot. There are coexisting long-tract disturbance and lower-extremity weakness. Treatment with diazepam provided symptomatic relief while plasma exchange (PLEX) did not lead to significant clinical improvement. The patient was bedridden within 3 months and passed away within 6 months from symptom onset. Conclusion: This case highlights the importance of recognition of uncommon presentation of SPS and its oncological significance. This entity requires a high degree of suspicion for initiation of the proper workup. The rapid identification and treatment of the underlying tumor might offer the best chance for recovery.