Optic nerve ultrasound is an established routine supplementary diagnostic tool for idiopathic intracranial pressure but it can also be helpful in avoiding misdiagnoses. We describe a case of an obese 15- year-old girl with persistent headaches, fundoscopic findings suggesting papilledema, normal brain imaging who underwent two lumbar punctures with unremarkable cerebrospinal fluid findings before ultrasound revealed optic disc drusen as the cause of the optic disc elevation.
Background: Sleep-disordered breathing (SDB) is common among acute stroke patients. We sought to investigate the prevalence, severity and type of SDB in consecutive acute stroke patients. Moreover, we aimed to identify independent predictors of SDB in the acute stroke setting and investigate potential associations between SDB and functional outcomes at three months. Methods: We prospectively studied consecutive acute stroke patients, who underwent overnight polysomnography within 72 h from symptom onset. Demographics, clinical and imaging characteristics were documented. Daytime sleepiness preceding the stroke, stroke severity on admission and functional outcome at three months were evaluated using the Epworth-Sleepiness Scale (ESS), National Institute of Health Stroke Scale (NIHSS) and modified Rankin Scale (mRS), respectively. SDB was documented using standard polysomnography criteria. Results: A total of 130 consecutive acute stroke patients were prospectively evaluated [110 with ischemic stroke and 20 with intracerebral hemorrhage, mean age 60.5 ± 10.9 years, 77% men, median NIHSS score on admission: 3 (IQR:2–17)]. The rate of SDB detection on polysomnography recordings was 79% (95%CI:71–86). Three variables were independently associated with the likelihood of SDB detection in multivariable analyses adjusting for potential confounders: age (OR per 10-year-increase:2.318, 95%CI:1.327–4.391, p = 0.005), male sex (OR:7.901, 95%CI:2.349–30.855, p = 0.001) and abnormal ESS-score (OR:6.064, 95%CI:1.560–32.283, p = 0.017). Among patients with SDB, congestive heart failure was independently associated with the likelihood of central apnea detection (OR:18.295, 95%CI:4.464–19.105, p < 0.001). Among all patients, increasing NIHSS score on admission (OR:0.817, 95%CI:0.737-0.891, p < 0.001) and Apnea–Hypopnea Index (OR:0.979, 95%CI:0.962–0.996, p = 0.020) emerged as independent predictors of excellent functional outcome at 3 months (mRS-scores 0–1). Conclusion: The high prevalence and severity of SDB in acute stroke patients and its negative impact on functional outcome indicate the importance of polysomnography implementation in everyday clinical practice of acute stroke work-up and management.
Background: Limited data exist regarding the prevalence of clinical, neuroimaging, and genetic markers among patients diagnosed with Cerebral Amyloid Angiopathy–related inflammation (CAA-ri). We sought to determine these characteristics in patients diagnosed in our center and to summarize available literature published either as single-case reports or small case series (<5 patients). Methods: We reported our single-center experience of patients diagnosed with CAA-ri according to international criteria during a seven-year period (2015–2022), and we abstracted data from 90 previously published cases. Results: Seven patients (43% women, mean age 70 ± 13 years) were diagnosed with CAA-ri in our center. The most common symptom at presentation was focal neurological dysfunction (71%), and the most prevalent radiological finding was the presence of T2/FLAIR white matter hyperintensities (100%). All patients were treated with corticosteroids and had a favorable functional outcome. Among 90 previously published CAA-ri cases (51% women, mean age 70 ± 9 years), focal neurological dysfunction was the most common symptom (76%), followed by a cognitive decline (46%) and headache (34%). The most prevalent neuroimaging findings were cerebral microbleeds (85%), asymmetric T2/FLAIR white matter hyperintensities (81%), and gadolinium-enhancing T1-lesions (37%). Genetic testing for the Apolipoprotein-E gene was available in 27 cases; 59% carried the APOE ε4/ε4 genotype. The majority of the published CAA-ri cases (78%) received corticosteroid monotherapy, while 17 patients (19%) were treated with additional immunosuppressive treatment. Favorable functional outcome following treatment was documented in 70% of patients. Conclusion: Improving the vigilance of clinicians regarding the early recognition and accurate diagnosis of CAA-ri is crucial for swift therapy initiation, which may result in improved functional outcomes.
Introduction: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and causes neurological manifestations because of excessive accumulation of phenylalanine (PHE). It can also affect adult patients who discontinue their treatment, even if they had been under adequate metabolic control during childhood. For that reason, it is recommended that PKU treatment should be continued throughout life and target PHE levels for adult patients should range between 120 and 600 μmol/L. Case Report: The authors present an adult patient with PKU who discontinued treatment and developed cognitive dysfunction because of high blood levels of PHE. Brain magnetic resonance imaging (MRI) of the patient was characteristic for PKU, presenting periventricular and callosal white matter hyperintensities in T2 and fluid-attenuated inversion recovery sequences, which were additionally associated with true restriction in diffusion-weighted imaging sequence, a far less recognized PKU neuroimaging feature. Discussion: Cognitive dysfunction and psychiatric disorders can be present in adult patients with PKU who discontinue treatment and have poor PHE metabolic control. The presence of white matter hyperintensities in T2 and fluid-attenuated inversion recovery MRI-sequences is a well-described neuroimaging feature of PKU, but diffusion-weighted imaging sequence may also be reliable in detecting brain lesions in patients with PKU. PKU lesions should be considered in the differential diagnosis of true diffusion restriction in brain MRI of patients with PKU history or those who might have escaped newborn screening diagnosis but present neurocognitive dysfunction. Appropriate treatment for the management of PKU should be initiated for the reversal of the clinical and neuroimaging findings.
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