A rare but important differential diagnosis in transient monocular blindness.
Ontology highlight
ABSTRACT:
SUBMITTER: Mehrzad R
PROVIDER: S-EPMC4208121 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Publications
A rare but important differential diagnosis in transient monocular blindness.
BMJ case reports 20141020
Similar Datasets
Project description:Patients with transient monocular blindness (TMB) can present with many different symptoms, and diagnosis is usually based on the history alone. In this study, we assessed the risk of vascular complications according to different characteristics of TMB. We prospectively studied 341 consecutive patients with TMB. All patients were interviewed by a single investigator with a standardized questionnaire; reported symptoms were classified into predefined categories. We performed Cox regression analyses with adjustment for baseline vascular risk factors. During a mean follow-up of 4.0 years, the primary outcome event of vascular death, stroke, myocardial infarction, or retinal infarction occurred in 60 patients (annual incidence 4.4 %, 95 % confidence interval (CI) 3.4-5.7). An ipsilateral ischemic stroke occurred in 14 patients; an ipsilateral retinal infarct in six. Characteristics of TMB independently associated with subsequent vascular events were: involvement of only the peripheral part of the visual field (hazard ratio (HR) 6.5, 95 % CI 3.0-14.1), constricting onset of loss of vision (HR 3.5, 95 % CI 1.0-12.1), downward onset of loss of vision (HR 1.9, 95 % CI 1.0-3.5), upward resolution of loss of vision (HR 2.0, 95 % CI 1.0-4.0), and the occurrence of more than three attacks (HR 1.7, 95 % CI 1.0-2.9). We could not identify characteristics of TMB that predicted a low risk of vascular complications. In conclusion, careful recording the features of the attack in patients with TMB can provide important information about the risk of future vascular events.
| S-EPMC5010823 | biostudies-other
Project description:Here we report on a patient with Parkinson's Disease and camptocormia due to Myofibrillar Myopathy Type 3. By leading the reader through the clinical reasoning process and highlighting the respective red flags we aim to increase the readers' awareness for the differential diagnosis of camptocormia.
| S-EPMC10249326 | biostudies-literature
Project description:Fragile X is a common cause of mental retardation in boys that can also affect girls. We present the case of a 21-year-old woman with Fragile X E (FRAXE) with learning difficulty, behavioural problems and epilepsy. Her diagnosis was made after investigations spanning several years, highlighting the importance of considering FRAXE and the benefits of reviewing genetic test results in the light of advancing technology.
| S-EPMC3027664 | biostudies-other
Project description:The degree to which glaucoma has effects in the brain beyond the eye and the visual pathways is unclear. To clarify this, we investigated white matter microstructure (WMM) in 37 tracts of patients with glaucoma, monocular blindness, and controls. We used brainlife.io for reproducibility. White matter tracts were subdivided into seven categories ranging from those primarily involved in vision (the visual white matter) to those primarily involved in cognition and motor control. In the vision tracts, WMM was decreased as measured by fractional anisotropy in both glaucoma and monocular blind subjects compared to controls, suggesting neurodegeneration due to reduced sensory inputs. A test-retest approach was used to validate these results. The pattern of results was different in monocular blind subjects, where WMM properties increased outside the visual white matter as compared to controls. This pattern of results suggests that whereas in the monocular blind loss of visual input might promote white matter reorganization outside of the early visual system, such reorganization might be reduced or absent in glaucoma. The results provide indirect evidence that in glaucoma unknown factors might limit the reorganization as seen in other patient groups following visual loss.
| S-EPMC7994383 | biostudies-literature
Project description:Transient vision loss after major surgical procedures is a rare clinical complication. The most common etiologies are cardiac, spinal, head, and neck surgeries. There has been no report on vision loss after lung resection. A 65-year-old man was admitted to our clinic with lung cancer. Resection was performed using right upper lobectomy with no complications. Cortical blindness developed 12 hours later in the postoperative period. Results from magnetic resonance imaging and diffusion-weighted investigations were normal. The neurologic examination was normal. The blood glucose level was 92 mg/dL and blood gas analysis showed a PO 2 of 82 mm Hg. After 24 hours, the patient began to see and could count fingers, and his vision was fully restored within 72 hours after this point. Autonomic dysfunction due to impaired microvascular structures in diabetes mellitus may induce posterior circulation dysfunction, even when the hemodynamic state is normal in the perioperative period. The physician must keep in mind that vision loss may occur after lung resection due to autonomic dysfunction, especially in older patients with diabetes mellitus.
| S-EPMC5553457 | biostudies-other
Project description:ObjectiveEEG value in possible transient ischemic attacks (TIA) is unknown. We aim to quantify focal slow wave activity (FSWA) and epileptiform activity (EA) frequency in possible TIA, and to analyse its contribution to the final diagnosis of seizures and/or definitive TIA.MethodsProspective longitudinal study of possible TIA patients evaluated at a tertiary centre during 36?months and with 1-3?months follow-up. EEG was performed as soon as possible (early EEG) and one month later (late EEG). A stroke neurologist established final diagnosis after reassessing all clinical and diagnostic tests.Results80 patients underwent an early EEG (45.8?h after possible TIA): 52 had FSWA and 6 of them also EA. Early FSWA was associated with epileptic seizure or definitive TIA final diagnosis (p?=?.041). Patients with these diagnoses had more frequently early FSWA (19/23; 82.6%) than EA (6/23; 26.1%). 6/13 (46.2%) patients with epileptic seizure final diagnosis had EA.In the late EEG, 43 (58.1%) patients demonstrated persistent FSWA and 3 of them also EA. Persistent FSWA in the late EEG was more frequent in seizures than in TIA patients (91.7% vs. 45.5%). FSWA disappearance was associated with acute vascular lesion on neuroimage.ConclusionsFSWA was the commonest EEG abnormality found in the early EEG of patients with possible TIA, but did not distinguish between TIA and seizure patients. In patients with seizures, FSWA was more common than EA and its presence in the late EEG was more likely in patients with epileptic seizures than with TIA.SignificanceThe majority of possible TIA patients with the final diagnosis of epileptic seizures do not have EA in the early or late EEG.
| S-EPMC6134195 | biostudies-literature
Project description:We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses, which were resected. Histological examination confirmed multiple atrial myxomas. Further clinical examination of the patient revealed subtle buccal and peri-oral lentigenes. The diagnosis of Carney complex was made clinically. The patient was subsequently diagnosed with testicular seminomas and a cutaneous angiomyxoma. Genetic investigation revealed a pathological mutation in the PRKAR1A gene. We review the reported manifestations and presentations of Carney complex, along with current diagnostic guidelines. We emphasise the importance of recognising the cutaneous manifestations of this rare autosomal dominantly inherited neoplasia syndrome.
| S-EPMC3138206 | biostudies-literature
Project description:Primary synovial chondromatosis (SC) is a disease of the synovium occurring in the third to fifth decade of life with the peak incidence in the fifth decade and commonly involves the knee in 50% cases. The diagnosis of SC is primarily radiological and intraoperative. Primary SC of the hip is rare, and their prevalence is not known.A 7-year-old female child presented with pain and limp left hip for 6 weeks. She had a stiff hip gait. Clinical examination revealed a fixed abduction, flexion deformity, and restricted internal rotation with apparent lengthening of 2 cm. The ultrasonography revealed synovial effusion with synovial deposits. Magnetic resonance imaging revealed features of tuberculous synovitis, inflammatory synovitis, or a rare possibility of SC. Arthrotomy was performed following failed hip aspiration. Multiple chondral loose bodies were noted on incision of capsule. Partial synovectomy was also performed. The synovium histopathology revealed multiple synovial chondral inclusions. A final diagnosis of SC was made.We report this case of primary SC, 7-year-old female patient with symptoms of hip pain, limp, and fixed deformities restricting hip function as a first of its kind in the mentioned age group. Hence, although rare SC may be considered as one of the differential diagnosis in hip symptoms in children <10 years of age.
| S-EPMC5553833 | biostudies-other
Project description:Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. The performance of those systems relies on the quantity and quality of underlying databases of disease-phenotype associations (DPAs). Although such databases are often developed by manual curation, they inherently suffer from limited coverage. To address this problem, we propose a text-mining approach to increase the coverage of DPA databases and consequently improve the performance of differential-diagnosis systems. Our analysis showed that a text-mining approach using one million case reports obtained from PubMed could increase the coverage of manually curated DPAs in Orphanet by 125.6%. We also present PubCaseFinder (see Web Resources), a new phenotype-driven differential-diagnosis system in a freely available web application. By utilizing automatically extracted DPAs from case reports in addition to manually curated DPAs, PubCaseFinder improves the performance of automated differential diagnosis. Moreover, PubCaseFinder helps clinicians search for relevant case reports by using phenotype-based comparisons and confirm the results with detailed contextual information.
| S-EPMC6128307 | biostudies-literature
Project description:A 29-year-old British Pakistani woman presented with a 2-month history of drenching fevers, night sweats, lethargy and tender cervical and axillary lymphadenopathy. Initial investigations, bloods and imaging were unremarkable. Fever persisted during her admission, and treatment for tuberculosis (TB) lymphadenitis was started postbiopsy until histology confirmed a diagnosis of Kikuchi-Fujimoto's disease (KFD). KFD has a non-specific presentation of fever, night sweats and lymphadenopathy and commonly raises a clinical suspicion of a number of other serious conditions such as TB, lymphoma, HIV, systemic lupus erythematous, toxoplasmosis and infectious mononucleosis. Although rare, KFD should be considered to be a differential diagnosis for fever of unknown origin and tender lymphadenopathy in otherwise well individuals. This case demonstrates the importance of a timely histological biopsy diagnosis to prevent an incorrect diagnosis and administration of unnecessary medications.
| S-EPMC5256458 | biostudies-other