Case 6: A 27-Year-Old Woman With Dysarthria.
Ontology highlight
ABSTRACT:
SUBMITTER: Lee D
PROVIDER: S-EPMC9829511 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Publications
Case 6: A 27-Year-Old Woman With Dysarthria.
Lee Donghan D Jeon Howook H Ahn Yuran Y Kim Hwa Jung HJ Shin Hae-Eun HE Koh Jung Hee JH
Journal of Korean medical science 20230109 2
Similar Datasets
Project description:Postpartum papillary muscle rupture (PMR) is extremely uncommon and tolerated poorly with limited management options other than emergency surgical intervention. This case demonstrates the challenges of postpartum PMR in a young woman with unrecognized vascular Ehlers-Danlos syndrome and highlights the importance of preconception screening of cardiovascular disease. (Level of Difficulty: Beginner.).
| S-EPMC8299862 | biostudies-literature
Project description:Valproate-induced Fanconi Syndrome (VFS) is a rare complication of this therapy that has been previously described only in children with epilepsy. We report the first known case of an adult with VFS. Metabolic derangements lead patients to present with fatigue, confusion, weakness, and even bone fractures. Identification and discontinuation of the offending agent is the treatment of choice and helps confirm the diagnosis. This case highlights the importance of surveillance for metabolic derangements among patients on long term therapy with this commonly prescribed medication.
| S-EPMC3157517 | biostudies-other
Project description:In this report we describe a young patient diagnosed with bulky FIGO stage IIIb squamous cell cervix carcinoma with severe and irreversible nephropathy after three weekly low-doses of cisplatin. Besides several known risk factors such as hypomagnesemia and hypoalbuminemia, the patient also proved to be homozygously polymorphic for two polymorphisms within the COMT gene (c.615 + 310C>T and c.616-367C>T). As COMT polymorphism has been associated with cisplatin-induced ototoxicity, its effect on nephrotoxicity of cisplatin should be the subject of further investigation.
| S-EPMC5555872 | biostudies-literature
Project description:BackgroundRestrictive cardiomyopathy is rare and heterogeneous in origin, clinical manifestation, and prognosis. Familial forms have, amongst others, been associated with mutations in the TNNI3 gene. We present a case of familial restrictive cardiomyopathy associated with a novel TNNI3 mutation including longitudinal follow-up.Case summaryA 27-year-old woman was evaluated for fatigue in the context of a family history of sudden cardiac death. Echocardiography was normal except for mild left atrial dilatation. Focused genetic screening, limited to the most common genes associated with cardiomyopathy, was unremarkable in 2006. In biopsy, mild inflammatory cardiomyopathy was diagnosed, and the patient was discharged. Thirteen years later, rapid clinical deterioration occurred in the context of new-onset atrial fibrillation (AF). Echocardiography now showed gross bi-atrial dilatation and evidence of diastolic dysfunction. Based on haemodynamic tracings during angiography, a diagnosis of restrictive cardiomyopathy was made. In 2018, next-generation sequencing revealed the hitherto undescribed Troponin I variant Lys193Glu in a functionally critical domain. Haemodynamic stabilization was achieved by pulmonary vein isolation. Until now, the patient remains symptom free under diuretic treatment.DiscussionDiagnosis of restrictive cardiomyopathy is complicated by often oligosymptomatic early presentation and a diverse clinical picture. Thorough medical and family history and early invasive haemodynamic tracing are indispensable in diagnosis. Therapy-refractory AF should raise suspicion. Reporting of longitudinal follow-up cases is essential to better understand the early symptoms, development, and prognosis of this rare disease. Broad genetic testing in unclear cases has become more available and affordable and should be considered early in the diagnostic workflow.
| S-EPMC8843866 | biostudies-literature
Project description:BackgroundCotyledonoid dissecting leiomyoma (CDL) is much less common than typical leiomyoma. Macroscopically, it displays multinodular, exophytic, placenta-like cystic masses and extends into the broad ligament, pelvic cavity, and retroperitoneal space. The seemingly malignant gross appearance of the tumor has perplexed gynecologists and pathologists; microscopically, it has no malignant characteristics, such as atypical cells, a high mitotic index, or tumor necrosis. To date, only a few cases of CDL have been reported. Here, we report a case of CDL, highlighting its gross and histological appearance, and present a review of the literature.Case descriptionA 49-year-old woman presented with a history of progressive constipation of 6 months' duration and a palpable left lower abdominal mass of 1 month's duration. Transvaginal ultrasound revealed a bulky uterus containing 2 subserosal fibroids measuring 9.9 cm × 6.9 cm × 6.3 cm and 8.1 cm × 6.6 cm × 6.8 cm, respectively. An abdominal modified radical hysterectomy and bilateral salpingo-oophorectomy was performed. An intraoperative frozen section showed an angioleiomyoma with edema. However, the postoperative paraffin section confirmed a diagnosis of CDL. No abnormalities were observed at the 6-month follow-up visit.ConclusionsDespite its seemingly malignant gross appearance, CDL, based on its microscopic appearance, is a rare benign tumor and has a favorable prognosis.
| S-EPMC9745353 | biostudies-literature
Project description:BackgroundCervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison.Case presentationIn this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty. The patient developed a mixed hyperkinetic disorder consisting of chorea, dystonia affecting the upper extremities, dysarthria, and blepharospasm. Whole exome sequencing of the patient revealed a novel heterozygous missense variant (Chr11(GRCh38): g.26525644C > G; NM_031418.2(ANO3): c.702C > G; NP_113606.2. p.C234W) in exon 7 in the ANO3 gene.ConclusionsANO3 encodes anoctamin-3, a Ca+2-dependent phospholipid scramblase expressed in striatal-neurons, that has been implicated in autosomal dominant craniocervical dystonia (Dystonia-24, DYT24, MIM# 615034). To date, only a handful of cases of DYT-24 have been described in the literature. The complex clinical presentation of the patient described includes hyperkinesias, complex motor movements, and vocal tics, which have not been reported in other patients with DYT24. This report highlights the utility of using clinical whole exome sequencing in patients with complex neurological phenotypes that would not normally fit a classical presentation of a defined genetic disease.
| S-EPMC5139108 | biostudies-literature
Project description: Not available
| S-EPMC10872682 | biostudies-literature
Project description: Not available
| S-EPMC7449229 | biostudies-literature
Project description:An 82-year-old woman with a history of LD stage SCLC of her left upper lobe nine years earlier, had been treated with five cycles chemotherapy cyclophosphamide, doxorubicin and etoposide (CDE)) resulting in a complete response. She received prophylactic cranial irradiation. Now she presented with a palpable mass in the right supra-clavicular fossa. Her further medical history revealed coronary vascular disease, for which she underwent PTCA; mild aortic valve stenosis and a pacemaker to treat a third degree AV block. She has NYHA class II. She had a history of cigarette smoking but she stopped when SCLC was diagnosed nine years ago. She had no dyspnea
2010-06-12 | GSE16575 | GEO
Project description: Not available
| S-EPMC9730912 | biostudies-literature