OpenMed/multicare-articles huggingface dataset:
Two Cases of Anterior Shoulder Dislocation and Fracture Secondary to Generalized Tonic-Clonic Seizure
Authors: Kevin Trong Dao, Hari Kunhi Prasad Veedu, Britney Ly, Neela Zalmay, Rajashree Hariprasad, Michael Eagan, Najib Ussef
Journal: Case Rep Orthop (2024)
MeSH terms: Case Reports

Dislocation of the glenohumeral joint secondary to generalized tonic-clonic seizures is well documented in the medical literature, with posterior dislocation being most commonly described. Still, these occurrences tend to be rare and affect a minority of patients, and fractures associated with dislocations after seizures are even less common. As such, the management of these injuries tends to be quite varied, and there is a paucity of documented cases in the literature. Here, we would like to present two rare cases of anterior shoulder dislocation secondary to seizures, with one patient also sustaining a fracture of the proximal humerus. We would also like to discuss the management and outcomes that have been achieved, since these cases tend to occur in a small number of epileptic patients.
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review
Authors: Xianda Wei, Xu Zhou, BoBo Xie, Meizhen Shi, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui
Journal: Front Genet (2023)
Keywords: col3a1, genotype–phenotype correlations, novel mutation, vascular ehlers–danlos syndrome, vascular rupture
MeSH terms: Case Reports

Vascular Ehlers-Danlos syndrome (vEDS), the most severe type of Ehlers-Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a man who died of vEDS. The precise diagnosis of this case using whole-exome sequencing provided solid evidence for the cause of death, demonstrating the practical value of genetic counseling and analysis. Early diagnosis for the proband's son, who was also affected by vEDS, revealed initial complications of vEDS in early childhood, which have rarely been reported. We also reviewed the literature on COL3A1 missense mutations and related phenotypes. We identified an association between digestion tract events and non-glycine missense variants, which disproves a previous hypothesis regarding the genotype-phenotype correlation of vEDS. Our results demonstrate the necessity of offering comprehensive genetic testing for every patient suspected of having vEDS.
Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B 1 variant causing 11β-Hydroxylase deficiency in a Chinese patient
Authors: Jialin Li, Fenglan Zhang, Miao Xu, Hao Qiu, Cheng Zhou, Li Li, Lan Qin
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: 11β-hydroxylase deficiency, chimeric cyp11b2/cyp11b1, missense variant, molecular diagnosis, whole exome sequencing
MeSH terms: Adrenal Hyperplasia, Congenital / diagnosis, Adrenal Hyperplasia, Congenital / genetics, Steroid 11-beta-Hydroxylase / genetics, Case Reports, Research Support, Non-U.S. Gov't, Cytochrome P-450 CYP11B2 / genetics, East Asian People, Female, Humans, Mixed Function Oxygenases, Steroid 11-beta-Hydroxylase, Cytochrome P-450 CYP11B2, Mixed Function Oxygenases, Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

Introduction:
11β-Hydroxylase deficiency (11β-OHD, OMIM#202010) is the second most common form of congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the CYP11B1 gene. Both single nucleotide variations (SNV)/small insertion and deletion and genomic rearrangements of CYP11B1 are important causes of 11β-OHD. Among these variant types, pathogenic CYP11B2/CYP11B1 chimeras only contribute to a minority of cases. Heterozygote cases (chimera combined with SNV) are very rare, and genetic analysis of these cases can be challenging.
Case presentation:
We presented a suspected 11β-OHD female patient with incomplete virilization, adrenal hyperplasia, and hypokalemia hypertension. Whole exome sequencing (WES) revealed that the patient carried both a chimeric CYP11B2/CYP11B1 and a novel missense variant, NM_000497.4: c.203T>G, p.Val68Gly (chr8:143961027) in CYP11B1, which were confirmed by CNVplex and Sanger sequencing, respectively. The patient's manifestations and genetic findings confirmed the diagnosis of 11β-OHD, and oral dexamethasone was administered as a subsequent treatment.
Conclusion:
This report showed a rare CYP11B2/CYP11B1 chimera combined with a novel missense variant in a 11β-OHD female patient. The result expands variant spectrum of CYP11B1 and suggests that both chimera and CYP11B1 variant screening should be performed simultaneously in suspected cases of 11β-OHD. To our knowledge, this is the first report about CYP11B2/CYP11B1 chimera detected by WES analysis. WES combined with CNV analysis is an efficient method in the genetic diagnosis of this rare and complex disorder.
Idiopathic nodular glomerulosclerosis: a case report
Authors: Claudia Landry, Antonio Rodriguez-Calero, Bruno Vogt, Federica Bocchi
Journal: Front Med (Lausanne) (2024)
Keywords: acute kidney injury, chronic kidney disease, diabetic nephropathy, idiopathic nodular glomerulosclerosis, nephrotic syndrome
MeSH terms: Case Reports

Idiopathic nodular glomerulosclerosis (ING) is a rare condition characterized by poor renal prognosis. The pathophysiology remains incompletely understood. Histologically, it closely resembles diabetic nephropathy. The development of this disease seems to be influenced by factors such as metabolic syndrome, particularly hypertension and glucose intolerance, along with active smoking. We report a case of ING in an obese 71-year-old male patient who had a long history of untreated hypertension and smoking. The patient underwent conservative treatment involving the administration of an angiotensin-2 receptor antagonist and dapagliflozin, resulting in favorable disease progression. Additional therapeutic measures, such as discontinuation of smoking and efforts toward weight loss, are strongly advised. Furthermore, regular screening for diabetes in the follow-up is crucial, as it can play a pathophysiological role in the disease and may manifest at a later stage, as observed in our clinical case.
Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder
Authors: Mirgul Bayanova, Aigerim Abilova, Alisa Nauryzbayeva, Zhibek Turarbekova
Journal: Case Rep Med (2024)
MeSH terms: Case Reports

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.
Prostatic schwannoma discovered after laparoscopic radical prostatectomy: A case report with literature review
Authors: Tanan Bejrananda, Nattawit Jakjaroenrit
Journal: IJU Case Rep (2023)
Keywords: case report, laparoscopic radical prostatectomy, prostate, schwannoma
MeSH terms: Case Reports

Background:
Schwannomas originating in the prostate are extremely rare. We present a case of prostatic schwannoma in a 66-year-old male with lower urinary tract symptoms. Preoperative evaluation revealed a prostatic mass, and the definitive diagnosis was made through laparoscopic radical prostatectomy.
Case presentation:
A 66-year-old male presented with persistent lower urinary tract symptoms for 5 years and a prostate-specific antigen level of 0.63 ng/mL. MRI showed a well-defined solid cystic mass in the posterolateral basal right peripheral zone, causing superior displacement of the right seminal vesicle. Laparoscopic radical prostatectomy was performed, confirming a periprostatic schwannoma.
Conclusion:
This case highlights the rarity of prostatic schwannomas and their association with lower urinary tract symptoms. MRI plays a crucial role in identifying prostatic masses, while laparoscopic radical prostatectomy can serve as a diagnostic and therapeutic approach for prostatic schwannomas. Increased awareness of this rare entity is essential for accurate diagnosis and optimal management.
Contrast-enhanced ultrasonography findings of LAMNs with peritoneal and splenic metastases: a case report and literature review
Authors: Mei Chen, Shengmin Zhang, Youfeng Xu, Xiupeng Jia, Yijiu Shi
Journal: Front Oncol (2023)
Keywords: appendix, mucinous neoplasms, ovarian neoplasms, spleen, ultrasonography
MeSH terms: Review

Low-grade appendiceal mucinous neoplasms (LAMNs) are rare appendiceal tumors that are primarily diagnosed using computed tomography(CT) enhancement and magnetic resonance imaging (MRI). Herein, we report the sonographic features, especially for contrast-enhanced ultrasound (CEUS), of a 70-year-old female with an unusual LAMN metastasizing to the peritoneum and spleen. The patient had a right pelvic mass 2 days prior to presentation. Two-dimensional (2D) ultrasound revealed a mixed cystic-solid mass in the right lower abdomen and spleen parenchyma; CEUS showed heterogeneous enhancement in both areas, suspected to be a mucinous mass. CT enhancement and MRI findings revealed concurrent findings. Histopathologically, LAMN lesions were confirmed in the appendix, spleen, and peritoneum of the specimens obtained during exploratory laparoscopy. No recurrences were reported at three years postoperatively. LAMN lesions may metastasize to abdominal organs, and imaging examinations are essential for diagnosis. This study presents major ultrasonography and CEUS findings for the diagnosis of LAMNs.
Dynamic endoscopic progression of gastrointestinal tract involvement in Langerhans cell histiocytosis: A pediatric case report
Authors: Jianwei Pan, Bo Liu, Huihua Zhang, Zhongyue Li
Journal: DEN Open (2024)
Keywords: langerhans cell histiocytosis, dabrafenib, endoscopy, gastrointestinal tract, pediatric

Gastrointestinal tract involvement in Langerhans cell histiocytosis (LCH) is extremely rare, with limited documentation of endoscopic manifestations. We report a 19-month-old girl who presented with repeated diarrhea and bloody stools, accompanied by recurrent pulmonary infections, anemia, hypoproteinemia, thrombocytopenia, coagulopathy, and hepatosplenomegaly with lymphadenopathy. Initial treatment with antibacterial agents, mesalazine, thalidomide, and prednisone led to temporary improvement; however, the symptoms repeatedly relapsed. She underwent three digestive endoscopies, but until the third endoscopy, a definitive diagnosis of Langerhans cell histiocytosis was established through biopsy. While upper gastrointestinal tract findings were not significant, notable changes were observed in the colorectal region. A colonoscopy revealed progression from erythema to diffuse hyperemia and edema, with erythema, erosion, and superficial ulcers extending into the distal ileal mucosa. Genetic analysis identified a BRAF-V600E mutation. Following treatment with chemotherapy (vincristine and prednisone) and the BRAF inhibitor dabrafenib, the patient demonstrated significant clinical improvement within days. At the 1-year follow-up, the patient had normal bowel movements and a weight gain of 2.5 kg. Early gastrointestinal endoscopy with multiple biopsies in suspected children can facilitate early detection. Dabrafenib is a viable treatment option for Langerhans cell histiocytosis.
Dedifferentiated Liposarcoma of the Rectum: A Case Report
Authors: Kourosh Kalachi, Cheddhi J Thomas, Paul Savoca
Journal: Gastro Hep Adv (2024)
Keywords: dedifferentiated, liposarcoma, rectal tumor
MeSH terms: Case Reports

Liposarcoma is a malignant soft tissue tumor that rarely involves the gastrointestinal tract. The dedifferentiated type typically carries the worst prognosis. Here, we describe a rare case of dedifferentiated liposarcoma of the rectum in a young male patient who was treated with surgical excision. Treatment is often difficult and there is no clear consensus on the benefits of radiotherapy or chemotherapy.
Case report: Lymphocytic-plasmacytic and eosinophilic enterocolitis presented with marked eosinophilia and basophilia in a cat
Authors: Jin-Young Kim, Tae-Sung Hwang, Dong-In Jung, Kun-Ho Song, Joong-Hyun Song
Journal: Front Vet Sci (2023)
Keywords: basophilia, cat, eosinophilic gastroenteritis, inflammatory bowel disease, lymphocytic-plasmacytic enterocolitis
MeSH terms: Case Reports

Inflammatory bowel disease is a common condition in cats, characterized by recurring gastrointestinal signs with histologic evidence of intestinal inflammation. A 9-month-old neutered male Sphynx cat was presented with a 5-week history of vomiting and hematochezia. Conservative patient management with a therapeutic gastrointestinal formula, antibiotics, and antiemetics resulted in a positive response to treatment, with relapse of signs when the medications were discontinued. A new finding of marked eosinophilia and basophilia was identified 3 months after the initial presentation. Colonoscopy revealed cecal erosions and a surgical biopsy with histopathology confirmed a diagnosis of lymphocytic-plasmacytic and eosinophilic enterocolitis. For this diagnosis, the patient was treated with prednisolone, tylosin, and metronidazole. Antibiotics were gradually tapered as the cat showed clinical improvement. The patient showed resolution of the gastrointestinal signs, and the numbers of eosinophils and basophils returned within the reference range 8 weeks after the treatment began. Basophilia and eosinophilia has been reported in conjunction with feline T-cell lymphoma. However, marked basophilia accompanying eosinophilia is extremely rare in cats with inflammatory bowel disease. We herein provide clinical details, including ultrasonography, endoscopy, histopathology, and disease course of feline lymphocytic-plasmacytic and eosinophilic enterocolitis with marked basophilia and eosinophilia. This case highlights the importance of considering enteritis as potential diagnoses when eosinophilia and basophilia are concurrently observed in cats.
Case Report: Remarkable breakthrough: successful treatment of a rare intracranial mesenchymal, FET::CREB fusion-positive tumor treated with patient-tailored multimodal therapy
Authors: Federica D'Antonio, Sabrina Rossi, Isabella Giovannoni, Rita Alaggio, Andrea Carai, Giuseppe M Milano, Antonella Cacchione, Alessandra Cancellieri, Marco Gessi, Manila Antonelli, Giovanna S Colafati, Giacomina Megaro, Sabina Vennarini, Angela Mastronuzzi
Journal: Front Oncol (2023)
Keywords: fet
MeSH terms: Case Reports

Background:
Intracranial mesenchymal tumors are a rare type of neoplasm (0.3% of all soft tissue tumors) characterized by a fusion of a FET family gene (usually EWSR1, rarely FUS) to CREB family genes (CREB1, ATF1, and CREM) with a slow-growing and favorable prognosis. Mesenchymal tumors are most frequently localized in the subcutaneous tissue (typically in the limbs and hands) of young adults and have rarely been diagnosed in the central nervous system. Surgery is the gold standard treatment; adjuvant radiation therapy and chemotherapy with sarcoma-based regimens have been used in rare cases when complete surgical excision was not recommended. In terms of prognosis, these tumors show a tendency for local relapse. The longest patient outcomes reported in the literature are five years.
Case description:
This case describes a 27-year-old woman with unconventional extracranial metastatic sites of myxoid intracranial mesenchymal tumor FET::CREB fusion-positive and high expression of PD-1 (40%) and PD-L1 (30%). Based on clinical, molecular, and histological characteristics, she underwent various local and systemic therapies, including surgery, proton beam therapy, the use of immune checkpoint inhibitors, and chemotherapy. These treatments led to a complete remission of the disease after eight years from tumor diagnosis.
Conclusions:
Our case sheds light on the importance of precision medicine and tailored therapy to explore new treatment opportunities for rare or unknown tumor entities.
Exploring the neural basis of non-invasive prehabilitation in brain tumour patients: An fMRI-based case report of language network plasticity
Authors: Leonardo Boccuni, Alba Roca-Ventura, Edgar Buloz-Osorio, David Leno-Colorado, Jesús Martín-Fernández, María Cabello-Toscano, Ruben Perellón-Alfonso, Jose Carlos Pariente Zorrilla, Carlos Laredo, Cesar Garrido, Emma Muñoz-Moreno, Nuria Bargalló, Gloria Villalba, Francisco Martínez-Ricarte, Carlo Trompetto, Lucio Marinelli, Matthew D Sacchet, David Bartrés-Faz, Kilian Abellaneda-Pérez, Alvaro Pascual-Leone, Josep María Tormos Muñoz
Journal: Front Oncol (2024)
Keywords: brain tumour, case report, fmri, neuromodulation, neurorehabilitation, prehabilitation
MeSH terms: Case Reports

Primary brain neoplasms are associated with elevated mortality and morbidity rates. Brain tumour surgery aims to achieve maximal tumour resection while minimizing damage to healthy brain tissue. Research on Neuromodulation Induced Cortical Prehabilitation (NICP) has highlighted the potential, before neurosurgery, of establishing new brain connections and transfer functional activity from one area of the brain to another. Nonetheless, the neural mechanisms underlying these processes, particularly in the context of space-occupying lesions, remain unclear. A patient with a left frontotemporoinsular tumour underwent a prehabilitation protocol providing 20 sessions of inhibitory non-invasive neuromodulation (rTMS and multichannel tDCS) over a language network coupled with intensive task training. Prehabilitation resulted in an increment of the distance between the tumour and the language network. Furthermore, enhanced functional connectivity within the language circuit was observed. The present innovative case-study exposed that inhibition of the functional network area surrounding the space-occupying lesion promotes a plastic change in the network's spatial organization, presumably through the establishment of novel functional pathways away from the lesion's site. While these outcomes are promising, prudence dictates the need for larger studies to confirm and generalize these findings.
A Rare Case of Partial Small Bowel Obstruction Secondary to Intestinal Myeloid Sarcoma
Authors: Paige Barnard, Omar Mouline
Journal: Cureus (2024)
Keywords: acute myeloid leukaemia, chemotherapy, myeloid sarcoma, small bowel obstruction, surgery
MeSH terms: Case Reports

This case report details a rare case of small bowel myeloid sarcoma (MS) in an otherwise fit and well 49-year-old male presenting initially with vague obstructive symptoms and weight loss. The patient ultimately required an operation for a small bowel obstruction where a laparotomy and small bowel resection were performed due to three cicatrising completely obstructing lesions in the mid-jejunum. Fewer than 1% of patients with acute myeloid leukaemia (AML) present with MS as an initial diagnosis, and only 6.5% of these are intestinal in origin. This report adds to the current body of literature on this rare condition, emphasises the diagnostic challenges resulting in delays to diagnosis, and discusses the crucial role of early and accurate identification for optimal treatment and prognosis. Surgery may be warranted in patients with complications such as obstruction; however, systemic chemotherapy tailored to AML is the primary therapeutic approach for MS patients.
Case Report: Cerebral folate deficiency caused by FOLR1 variant
Authors: Qian Wang, Jie Yang, Chunmei Yu, Yao Deng, Qianhui Wen, Hua Yang, Hao Liu, Rong Luo
Journal: Front Pediatr (2024)
Keywords: 5-mthf, folr1 gene variant, cerebral folate deficiency, developmental delay, seizures
MeSH terms: Case Reports

Background:
Cerebral folate transport deficiency (CFD) is a rare neurological disease characterized by a deficiency in 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid, with a normal peripheral total folate level. Late infantile-onset refractory seizures, ataxia, movement disorders, hypotonia, developmental delays, and developmental regression characterize CFD. Some patients present with visual and hearing impairments and autism-like manifestations. This study aimed to elucidate the clinical features, diagnostic approach, and therapeutic outcomes in siblings with CFD due to FOLR1 variants, highlighting the importance of early diagnosis and treatment.
Case presentation:
We reported the cases of two siblings with CFD caused by a new variant in FOLR1. They presented with intractable epilepsy, developmental regression, and ataxia, and the younger sibling developed autism. Whole-exon sequencing revealed a c.148G>A homozygous variant, resulting in a change in the amino acid sequence (p.Glu50Lys). Low 5-MTHF levels were detected in the cerebrospinal fluid.
Conclusions:
This report illustrates that CFD was caused by FOLR1 variants in two siblings. They had intractable epilepsy, developmental regression, and ataxia, and a diagnosis of CFD was confirmed by a c.148G>A (p.Glu50Lys) variant in FOLR1, a new pathogenic variant in FOLR1. Early diagnosis is essential and can improve outcomes in affected patients.
Pseudo-Orthostatic Tremor in Graves' Disease: A Possible Early Sign of Parkinsonism?
Authors: Davide Comolli, Simone Regalbuto, Sebastiano Arceri, Giuseppe Trifirò, Alessandra Calculli, Carlo Fazio, Piergiorgio Grillo, Massimiliano Todisco, Antonio Pisani
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: abnormal dat-spect, autoimmune thyroiditis, parkinsonism, pseudo-orthostatic, tremor
MeSH terms: Graves Disease / complications, Graves Disease / diagnosis, Graves Disease / physiopathology, Parkinsonian Disorders / complications, Parkinsonian Disorders / diagnosis, Parkinsonian Disorders / diagnostic imaging, Parkinsonian Disorders / physiopathology, Tremor / diagnosis, Tremor / etiology, Tremor / physiopathology, Case Reports, Aged, Antithyroid Agents / therapeutic use, Humans, Male, Methimazole / therapeutic use, Antithyroid Agents, Methimazole

Background:
Pseudo-orthostatic tremor is a hyperkinetic movement disorder usually associated with other neurological comorbidities, mainly Parkinson's disease.
Case report:
A 65-year-old male presented with unsteadiness and leg tremor while standing. Electrophysiological evaluation confirmed the presence of pseudo-orthostatic tremor. Blood test showed an undiagnosed Graves' disease. A complete remission of tremor was achieved with methimazole. Dopamine transporter scintigraphy showed a mild reduction of the striatal binding, bilaterally.
Discussion:
Graves' disease can be associated with pseudo-orthostatic tremor. Thyroid function should be assessed in patients complaining of unsteadiness. The causative role of hyperthyroidism in determining dopaminergic degeneration and uncovering subclinical parkinsonism warrants further investigations.