Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Clinical Reasoning: A Young Adult Man With Cognitive Changes, Gait Difficulty, and Renal Insufficiency.
Neurology
January 2023
From the Ken & Ruth Davee Department of Neurology (B.S., R.D., G.R.H., H.K., N.B., A.D.W., E.M.L.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Department of Pediatrics (J.B.), Northwestern University Feinberg School of Medicine, Chicago, IL.
A 22-year-old right-handed man with recently diagnosed gout and renal insufficiency presented with 3 months of progressive gait instability and cognitive changes. He initially presented to an outside institution and underwent a broad workup, but an etiology for his symptoms was not found. On subsequent presentation to our institution, his examination revealed multidomain cognitive dysfunction, spasticity, hyperreflexia, and clonus.
View Article and Find Full Text PDFInfantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a Gene Variant: A Case Report and Brief Review of the Literature.
Front Neurol
September 2021
Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda Unità Sanitaria Locale - Istituto di Ricerca e Cura a Carattere Scientifico di Reggio Emilia, Reggio Emilia, Italy.
Charcot-Marie-Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger 2 () gene have been described in several axonal polyneuropathy (CMT2) patients with childhood or adult onset.
View Article and Find Full Text PDFRecognition, identification, and diagnosis announcement of neonatal arterial ischemic stroke: A combined exploratory quantitative and qualitative study on parents' lived experiences.
Arch Pediatr
May 2021
Pediatric Neurology Unit, Paediatric subspecialties Service, Geneva University Hospitals, Rue Willy-Donzé 6, 1211 Geneva 14, Switzerland. Electronic address:
Objectives: To examine the epidemiology of neonatal arterial ischemic stroke (NAIS) and the chronology of care from early reported manifestations to formal diagnosis obtained by imaging. To explore how parents experienced the sequence of events, their own perception of potential diagnostic delay, diagnosis announcement, and prognosis discussion, and their current view of their child's quality of life.
Methods: We retrospectively analyzed data of all NAIS cases that have been treated in our institution.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!