OpenMed/multicare-articles huggingface dataset:
Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation
Authors: Ewa Zapalska, Dominika Wrzesień, Adam Stępień
Journal: Front Neurol (2023)
Keywords: l144s, sod1 mutation, amyotrophic lateral sclerosis (als), familial als (fals), familial amyotrophic lateral sclerosis, flail leg syndrome, phenotype of als/mnd, pseudopolyneuritic form
MeSH terms: Case Reports

We observed a Polish family with familial amyotrophic lateral sclerosis with heterozygous L144S SOD1 mutation, which manifested clinically as flail leg syndrome. Flail leg syndrome is a rare phenotype of amyotrophic lateral sclerosis, with slow progression, long survival, and predominance of lower motor neuron signs at onset, as a triad of distal paresis, muscle atrophy, and hyporeflexia/areflexia, confined to the lower limbs for an extended period of time. Although familial amyotrophic lateral sclerosis is usually associated with a worse prognosis than the sporadic form of the disease, the clinical course of the disease in patients with L144S SOD1 mutation is benign, with slow progression and long survival. This unique case report provides an in-depth clinical analysis of all of the symptomatic members of a family, who were diagnosed with amyotrophic lateral sclerosis in our clinic, including three siblings (two brothers and a deceased sister) with flail leg syndrome and their fraternal aunt, who has been previously misdiagnosed with cervical myelopathy and is living with symptoms of the disease for 15 years. Sanger sequencing of the SOD1 gene was performed in all of the living patients, revealing an L144S (c.434T>C, p.Leu145Ser) heterozygous mutation. The aim of this case report is to increase the physician's awareness of the atypical phenotypes of amyotrophic lateral sclerosis and hopefully, to encourage further research on the factors responsible for delayed disease progression in patients with L144S SOD1 mutation.
Acute myocardial infarction complicating active ulcerative colitis: a case report
Authors: Eva D Papadimitraki, Mubarak Ahamed, Nicholas H Bunce
Journal: Case Rep Cardiol (2011)
MeSH terms: Case Reports

Ulcerative colitis (UC) is a chronic inflammatory disease that predominantly affects the gastrointestinal (GI) tract but can involve extraintestinal organs including musculoskeletal system and skin. The most frequent cardiac manifestations of UC are pericarditis and myocarditis. Patients display an increased risk for venous thromboembolic complications and mesenteric ischemia, but the association with ischemic heart disease and myocardial infarction is uncertain. We present the case of a 27-year-old man with anti-PRIII ANCA-positive ulcerative colitis and increased factor VIII activity who presented with an acute myocardial infarction. We discuss possible causative links between these clinical entities and demonstrate the role of cardiac magnetic resonance (CMR) in patients with underlying inflammatory conditions who present with chest pain and evidence of myocardial damage.
Improvement of palmoplantar pustulosis after excision of polyacrylamide injected into the nasal region
Authors: Kazuya Kashiyama, Jinyoung Lee, Kazufumi Koga, Yumi Matsuo, Katsumi Tanaka
Journal: Case Reports Plast Surg Hand Surg (2021)
Keywords: polyacrylamide, autoimmune syndrome induced by adjuvants, polyacrylamide hydrogel
MeSH terms: Case Reports

We report a patient in whom polyacrylamide hydrogel injected into the nasal region caused palmoplantar pustulosis. We report this case because few cases of autoimmune syndrome induced by adjuvants caused by polyacrylamide have been reported.
Solitary fibrous tumor of the postcricoid region: a case report and literature review
Authors: Brian Cervenka, Brenda Villegas, Uttam Sinha
Journal: Case Rep Otolaryngol (2013)

Solitary fibrous tumor (SFT) is a rare mesenchymal neoplasm that can present essentially anywhere in the body. Presentations in the hypopharynx are extremely rare with only two previous cases reported. We report the first case of postcricoid SFT occurring in a 58-year-old male requiring a microsuspension laryngoscopy excision following an unsuccessful transoral robotic attempt. The excision was uneventful, and the patient is currently without recurrence. Current management strategies of the hypopharyngeal SFT, the unique differential diagnosis, and challenges in surgical approaches in the postcricoid region are discussed.
Prodromal Dementia With Lewy Bodies and Recurrent Panic Attacks as the First Symptom: A Case Report
Authors: Alberto Jaramillo-Jimenez, Yinbing Ying, Ping Ren, Zhan Xiao, Qian Zhang, Jian Wang, Han Rong, Miguel Germán Borda, Laura Bonanni, Dag Aarsland, Donghui Wu
Journal: Front Neurol (2022)
Keywords: case report, dementia with lewy bodies, neuropsychiatric symptoms, panic attacks, prodromal dementia with lewy bodies
MeSH terms: Case Reports

Psychiatric-onset dementia with Lewy bodies (DLB) might include symptoms of depression, hallucinations, anxiety, and apathy. Here, we report a patient with DLB with recurrent panic attacks as her first symptom 5 years before a biological-based diagnosis of probable DLB. We provide an extended description of the clinical presentation and course from psychiatric-onset DLB to dementia in an 83-year-old woman. This case illustrates the common misdiagnosis of DLB and the delay of having a detailed clinical and biomarker assessment for structured diagnosis. With a detailed description of the clinical presentation of this case, the empirical treatment strategies, and the patient perspectives, we aim to make clinicians aware of panic attacks within the psychiatric-onset DLB.
Hutchinson-gilford progeria syndrome: a rare genetic disorder
Authors: Rajat G Panigrahi, Antarmayee Panigrahi, Poornima Vijayakumar, Priyadarshini Choudhury, Sanat K Bhuyan, Ruchi Bhuyan, G Maragathavalli, Abhishek Ranjan Pati
Journal: Case Rep Dent (2013)

Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description of differential diagnosis and dental consideration. This is the first case report of HGPS which showed pectus carinatum structure of chest.
Rituximab for Autoimmune Encephalitis with Epilepsy
Authors: Mohankumar Kurukumbi, Rahul H Dave, Jose Castillo, Tulsi Shah, Joanne Lau
Journal: Case Rep Neurol Med (2020)
MeSH terms: Case Reports

Intractable epilepsy remains a significant medical challenge, resulting in recurrent and prolonged intensive care unit (ICU) admissions. Autoimmune encephalitis is emerging as a treatable cause of intractable epilepsy. It is characterized by antibodies against cerebral antigens, such as potassium channels such as leucine-rich, glioma inactivated 1 (LGI1) and contactin-associated protein 2 (CASPR2), calcium channels such as the voltage-gated calcium channel (VGCC), or neurotransmitter receptors such as the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), gamma aminobutyric acid receptor (GABAR), and N-methyl-D-aspartate receptor (NMDAR). Diagnosis requires a syndrome consistent with an antibody identified in serum or cerebrospinal fluid (CSF) using methods that minimize risk of false-positives. Although there is no officially approved therapy for these disorders, typical approaches involve chronic high-dose steroids, intravenous immunoglobulin (IVIG), or plasma exchange. Rituximab is effective for antibody-associated disorders such as lupus, myasthenia gravis, and neuromyelitis optica. Here, we present three patients who were admitted with recalcitrant status epilepticus and demonstrated serum antibodies against NMDAR, LGI1, or VGCC using a cell-based assay. All patients demonstrated complete, long-term epilepsy control and improvement in symptoms with rituximab.
Cuff Failure of Spiral-Filled Polyvinyl Chloride Endotracheal Tube Immediately after Tracheal Intubation Using a Channeled Videolaryngoscope (Pentax Airway Scope)
Authors: Koichi Nishikawa, Yoshihisa Fujita
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

We report on a case of mechanical damage to the spiral-filled polyvinyl chloride endotracheal tube that occurred shortly after tracheal intubation using a channeled videolaryngoscope (Pentax airway scope). We also found this problem in two other cases among 350 neurosurgery patients over the past 5 years. Prior to intubation, we did not observe any defect in the cuff. However, the cuff could not be filled with air immediately after the intubation. Anesthesiologists should be aware that, during tracheal intubation using an airway scope, friction between the endotracheal tube and inner surface of the introducer might result in sudden rupture of the cuff.
Sclerosing Mesenteritis, a Rare Cause of Mesenteric Mass in a Young Adult: A Case Report
Authors: Eliana Piombino, Costanza D'Agata, Maria Carolina Picardo, Claudia Caltavuturo, Gaetano Magro, Cristina Colarossi, Lorenzo Memeo
Journal: Front Surg (2021)
Keywords: abdominal mass, fibroinflammatory disease, mesenteric mass, sclerosing mesenteritis, small bowel obstruction
MeSH terms: Case Reports

Sclerosing mesenteritis (SM) is a rare fibroinflammatory disorder that involves mesenteric adipose tissue, more frequently localized in the small intestine, with an insidious clinical presentation having symptoms related to mass effect, usually resulting in bowel obstruction, mesenteric ischemia, as well as rapid weight loss. We report a case of a 23-year-old male presenting with palpable abdominal mass, mesogastric pain, and a history of rapid weight loss, who underwent exploratory laparoscopy. A hemorrhagic and gelatinous nodular tumor mass of the mesentery was identified and the surgical procedure was converted to a laparotomic approach. Histologically, the mass was composed of a proliferation of bland-looking spindle cells with slightly eosinophilic cytoplasm and elongated normochromatic nuclei with mild nuclear atypia, haphazardly set in a collagenized stroma; fat necrosis and inflammatory cells (lymphocytes, plasma-cells, and histiocytes) were also evident. The diagnosis of sclerosing mesenteritis was made. Our case emphasizes that histology remains pre-eminent for a correct diagnosis of SM, as pre-operative radiological-based diagnosis is non-specific.
Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene
Authors: Charles Volk, Gregory Matwiyoff
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

Background:
Birt-Hogg-Dubé syndrome is a genetic disorder characterized by skin fibrofolliculomas, cystic lung disease, and bilateral renal tumors. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon. This case presents a young female presenting with only cystic lung disease and kidney tumors, identified as having a never before identified heterozygous mutation in the folliculin (FLCN) gene which is the likely cause of her syndrome.
Case presentation:
A 34-year-old female was found to have bilateral renal masses, 2.4 cm on the right and 7.6 cm on the left, as well as multiple, small cysts in the lungs. Chest imaging further characterized the lung cysts as being basilar predominant with the largest measuring 1.6cm. The left kidney mass was resected with a partial nephrectomy with final pathologic diagnosis of an oncocytoma. Genetic testing was undertaken as she did not have characteristic skin findings. A previously undescribed mutation in the FLCN gene (c.780-2A>G) was identified with no matches in the human genetic mutation database (HGMD). Review of that database identified over 160 separate mutations in the FLCN gene. Extensive history did not identify any family members who had similar disease processes suggesting that this could be a spontaneous mutation in the proband.
Conclusions:
This case highlights that the traditional view of Birt-Hogg-Dubé syndrome as having a strong familial component may be incorrect and that spontaneous mutation may be more common than previously thought. Also notable is the fact that this patient had no characteristically described fibrofolliculomas that traditionally are the hallmark of the condition. This case suggests that genetic testing should be obtained in all suspected cases of Birt-Hogg-Dubé syndrome as the patient may not present with the typical skin findings and may also present with no family history consistent with this disorder.
Klebsiella pneumoniae liver abscess with purulent meningitis and endogenous endophthalmitis: A case report
Authors: Fang Li, Wenfei Zheng, Jian Yu, Linyan Zhao
Journal: Front Surg (2022)
Keywords: klebsiella pneumoniae liver abscess, diabetes mellitus, endophthalmitis, hypervirulent klebsiella pneumoniae, meningitis
MeSH terms: Case Reports

This is a rare but typical case of a Klebsiella pneumoniae liver abscess with migratory infections including purulent meningitis and endogenous endophthalmitis. The patient had a chief complaint of 7 days of fever, 4 days of blurry vision, and 4 h of glossolalia. Ultrasound scan and computed tomography (CT) suggested a liver abscess. Both blood and drainage fluid cultures grew K. pneumoniae with a high mucosal phenotype. The patient was finally diagnosed with a K. pneumoniae liver abscess, purulent meningitis, and endogenous K. pneumoniae endophthalmitis in the right eye. Ultrasound-guided percutaneous catheter drainage (PCD) of the liver abscess was performed, and meropenem was used to control infection. The patient was given 0.1 ml of vancomycin (10 g/L) and 0.1 ml of ceftazidime (20 g/L) were by intravitreal injection for the treatment of endophthalmitis. The infection was gradually controlled after such treatments. The patient was discharged from our hospital with an improved condition. However, during the time of follow-up, she developed complications due to severe pneumonia and eventually died in a local hospital. This case revealed that a rapid diagnosis followed by appropriate treatment would improve prognosis and prevent severe metastatic complications.
Case report: Subacute combined degeneration of the spinal cord due to nitrous oxide abuse
Authors: Huijuan Wu, Huiqing Huang, Liaoyang Xu, Niu Ji, Xinyu Zhou, Kang Xie
Journal: Front Neurol (2023)
Keywords: cognitive decline, methylprednisolone, nitrous oxide, subacute combined degeneration of the spinal cord, vitamin b12
MeSH terms: Case Reports

Background:
Nitrous oxide (N2O) is an increasingly popular recreational drug. N2O irreversibly disturbs the metabolism of vitamin B12, resulting in a functional deficiency. Vitamin B12 is vital for myelin synthesis and its deficiency primarily produces neurological complications. Inhaling N2O is more common and neurological complications are more evident than before.
Case presentation:
We report a young man who developed progressive limb numbness and unsteady walking after N2O abuse. The dominant diagnosis was subacute combined degeneration of the spinal cord (SCD). The patient was admitted to the hospital and given adenosylcobalamin treatment, but his symptoms progressed significantly from before and he developed acute cognitive impairment. After methylprednisolone combined with vitamin B12 treatment, symptoms significantly improved.
Conclusion:
Clinicians need to understand the presentation and treatment of SCD caused by N2O abuse. When symptoms progress despite conventional vitamin B12 therapy, the combination of methylprednisolone and vitamin B12 may be considered.
Tamoxifen retinopathy: a case report
Authors: Lingling Wang, Heng Miao, Xiaoxin Li
Journal: Springerplus (2015)
Keywords: electro-oculogram, retinopathy, spectral-domain optical coherence tomography, tamoxifen

Purpose:
To present a case of tamoxifen retinopathy on a 57-year-old woman.
Design:
An observational case.
Methods:
A review of history, clinical examination, and findings on Spectral-domain Optical Coherence Tomography (SD-OCT), fluorescein angiogram (FA) and electro-oculogram (EOG) was conducted.
Results:
A 57-year old female patient, who had been treated with oral tamoxifen after mastectomy due to breast cancer, had profound visual impairment in both eyes. Disruption of the ellipsoid zone and interdigitation zone which represent photoreceptor damage as well as macular thinning was revealed on SD-OCT in both eyes. Bilateral retinal pigmented epithelium (RPE) function compromised was indicated by reduced Arden ratio in EOG.
Conclusion:
Tamoxifen-induced retinopathy could be detected by SD-OCT and EOG. As it is irreversible, patients who are given tamoxifen need regular ophthalmic consultation, including SD-OCT and EOG before and during the treatment in order to early detect and avoid further retinal damage.
Cystic Fibrosis in a Female Infant with Cardiac, Ocular, and Musculoskeletal Anomalies
Authors: Azhar Farooqui, Susan Gamal Eldin, Muna Dawood Ali, Ali AlTalhi, Ahmad AlDigheari
Journal: Case Rep Pediatr (2015)

Cystic fibrosis (CF) remains the most common hereditary disease in the western population. Its concomitant presence with other congenital abnormalities is a rare phenomenon with very little documentation. In this case report we describe a case of cystic fibrosis in a female infant with cardiac, ocular, and musculoskeletal abnormalities. A brief literature review is also provided.
Malignant glomus tumor of prostate: A case report
Authors: Zhanxin Sun, Fuzhen Sun, Chunhong Yu, Helong Xiao, Qingle Xu, Bo Gao, Liuxiong Guo, Junjiang Liu, Shoubin Li
Journal: Front Oncol (2023)
Keywords: diagnosis, glomus tumor, malignant, prostate, urinary tract
MeSH terms: Case Reports

We reported an 85-year-old patient with malignant glomus tumor (GT) of the prostate. He presented with urinary frequency for more than 2 years and gross hematuria for 7 days. Computed tomography scan showed that the prostate was markedly irregularly enlarged, and the boundary between the prostate and the posterior wall of the bladder was unclear. Bilateral kidneys and ureters were dilated. Biochemical examinations showed that the serum potassium was 7.24 mmol/L and the serum creatinine was 974.6 μmol/L. Transurethral diagnostic resection was performed after restoring homeostasis through several times of bedside blood filtration. The pathological diagnosis was malignant GT. The patient's renal function recovered after bilateral nephrostomy, and he refused further treatment and was out of contact after 9 months. We summarize the clinical and histopathological features of malignant GT of the prostate in order to improve the early recognition of the disease by clinicians.
Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report
Authors: Elizabeth Sarah Mayne, Malcolm Tait, Barry Frank Jacobson, Evashin Pillay, Susan J Louw
Journal: Thromb J (2018)
Keywords: acquired glanzmann’s thrombasthenia, acquired von willebrand syndrome, monoclonal gammopathy
MeSH terms: Case Reports

Background:
Autoimmune paraphenomena, are associated with B-cell lymphoproliferative disorders, including monoclonal gammopathy of uncertain significance. These paraphenomena can rarely include acquired bleeding disorders.
Case presentation:
This case study reports an unusual clinical presentation of 2 acquired bleeding disorders, Acquired von Willebrand syndrome (disease) and Acquired Glanzmann's thrombasthenia, in an elderly patient with monoclonal gammopathy of uncertain significance.
Conclusions:
Acquired bleeding disorders are often underdiagnosed and a high degree of clinical suspicion is required. The patient in this study demonstrated platelet aggregometry which was atypical for isolated Glanzmann's thrombosthenia because of the severe concomitant endogenous decrease in von Willebrand factor. There was an absence of platelet aggregation to all tested agonists including ristocetin. Once the diagnosis was made, however, the patient showed a partial response to intravenous immunoglobulin confirming the immunological pathogenesis in this case. This case highlights the need to consider acquired bleeding disorders in patients with a possible predisposing factor.
Person to person transmission of pneumonia associated with the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): a familial cluster analysis in North Central Nigeria
Authors: Adamu Ishaku Akyala, Liman Muhammad, Emmanuel Akabe, Akinyinka Akinyoade, Emmanuel Agogo
Journal: Pan Afr Med J (2020)
Keywords: covid-19, pneumonia, transmission, viral shedding
MeSH terms: COVID-19 / diagnosis, COVID-19 / transmission, Case Reports, Adult, COVID-19 / epidemiology, Cluster Analysis, Family Health, Female, Humans, Male, Nigeria / epidemiology

The continued absence of viable vaccines, limited diagnostic tools, insufficient protocol for isolation period, and weak health care system in developing countries with Nigeria inclusive heightens the tension trailing the arrival of Novel SARS-CoV-2 that was officially declared a global health emergency by World Health Organization (WHO) in January 2020. In this context, this study assesses the adequacy and potency of treatment for pneumonia associated with the Novel SARS-CoV-2. Counting from 27th February 2020, exponential rise in cases of SARS-CoV-2 has been recorded in Nigeria. Despite limited data on person-to-person transmission or nosocomial transmission, we report the epidemiological features of a familial cluster of 4 positive cases to SARS-CoV-2 in Nasarawa State, North Central Nigeria. This cluster presented with an unexplained pneumonia after having contact with a family member who died after manifesting symptoms of Novel SARS-CoV-2; the test came out positive after his demise. Real-time reverse transcriptase polymerase chain reaction (RT-PCR) tests for SARS-CoV-2 nucleic acid were performed using nasopharyngeal swabs (Novel Coronavirus PCR Fluorescence Diagnostic Kit, BioGerm Medical Biotechnology at the Nigeria Centre for Disease Control (NCDC) in Abuja. Nigeria. From March 10, 2020, we enrolled a family of four patients out of a family of 10 who were positive to novel coronavirus. Four family members (aged 36-43 years) all presented with fever, upper or lower respiratory tract symptoms, or diarrhea, or a combination of these 3-6 days after exposure. These conditions continued to manifest at the Federal Medical Center, Keffi in Nasarawa State, 3-7 days after symptom onset. Their nasopharyngeal or throat swabs of these 10 family members were taken and four returned positive to coronavirus, while six tested negative. The epidemiological evidence from our study on familial cluster analysis reveals possible transmission of Novel SARS-CoV-2 during the incubation period. Study outcomes underscore the importance of probing contact history of potentially infected individuals, for prompt identification to preventing further spread.
Mature teratoma treated as lymphatic malformation for 5 years: a case report and literature review
Authors: Hayato Maruguchi, Tadashi Nomura, Satoru Sasaki, Kazunobu Hashikawa, Hiroto Terashi
Journal: Case Reports Plast Surg Hand Surg (2019)
Keywords: ok-432, teratoma, congenital neck mass, lymphatic malformation, sclerotherapy
MeSH terms: Case Reports

Teratomas and lymphatic malformations are included in the differential diagnosis of congenital neck masses. They can exhibit similar clinical findings. The authors present a case of mature teratoma that had been managed as a lymphatic malformation for years. Clinicians should be careful not to dismiss clues for the correct diagnosis.