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Intern Med
Department of Neurology, Yokohama Municipal Citizen's Hospital, Japan.
Published: June 2015
We herein report the case of a 19-year-old woman with facial diplegia and paresthesias (FDP) preceded by flu-like symptoms. We diagnosed the patient with a regional variant of Guillain-Barré syndrome due to decreased tendon reflexes, albuminocytological dissociation in the cerebrospinal fluid and demyelinating features on nerve conduction studies. The patient also had IgM anti-GalNAc-GD1a antibodies, and treatment with glucocorticoids was effective for treating the facial diplegia, but not paresthesia. Therefore, facial palsy may have a different pathophysiology from paresthesia or other symptoms of FDP, which responds to glucocorticoid therapy.
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http://dx.doi.org/10.2169/internalmedicine.54.2972 | DOI Listing |
Rev Neurol
February 2025
Neuromuscular Diseases Unit, Neurology Department, University Hospital Vall d'Hebron, 08035 Barcelona, Spain.
Introduction: We present a rare case of acute immune-mediated polyradiculoneuritis, a Guillain-Barré Syndrome (GBS) variant, manifesting as ophthalmoparesis-ataxia, facial diplegia, and acute bulbar palsy, accompanied by a unique autoimmune profile.
Clinical Case: A 75-year-old female developed rapidly progressive symptoms, including bilateral non-reactive mydriasis, ptosis, complete ophthalmoplegia, bilateral facial weakness, tongue immobility, palatal paralysis, limb dysmetria, ataxia, and brisk generalized tendon reflexes, all while maintaining a preserved mental state. Symptoms emerged 10 days after a probable gastrointestinal infection.
Neurol Int
February 2025
Department of Neurology, NYU Grossman School of Medicine, 222 E 41st St, 14th Floor, New York, NY 10017, USA.
: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder that causes demyelination of both the central (CNS) and peripheral nervous systems (PNS). : This study aims to report a unique MLD case presenting with cranial neuropathies and ataxia, initially without white matter changes on MRI, leading to diagnostic uncertainty. : A 20-month-old presented with bilateral abduction deficits, facial diplegia, and ataxia, raising the possibility of an acquired demyelinating condition.
View Article and Find Full Text PDFCureus
January 2025
Anesthesia and Critical Care, Cheikh Khalifa International University Hospital, Mohammed VI University of Health Sciences, Casablanca, MAR.
Guillain-Barré syndrome (GBS) is an acute, demyelinating, immune-mediated polyradiculoneuropathy, often triggered by an infection. It is the most common cause of acute flaccid areflexic paralysis in children. Although generally associated with infections, this article presents a rare case with a rapid onset, where GBS was revealed following a context of head trauma.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Rehabilitation Medicine, College of Medicine, Chungnam National University, Daejeon, Republic of Korea.
, which encodes β-catenin, plays an essential role in the Wnt signaling pathway and regulates cellular homeostasis. Mutations in this gene can lead to neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). This study aimed to identify mutations in two patients presenting with global developmental delay and compare their distinct phenotypes.
View Article and Find Full Text PDFAndes Pediatr
October 2024
Departamento de Neuropediatría, Hospital Fundación Alcorcón, Madrid, España.
Unlabelled: Congenital myotonic dystrophy type 1 (DM1) is a rare entity that can pose a diagnostic challenge, especially if other processes such as prematurity coexist.
Objective: to describe the typical presentation of congenital DM1 and thus increase diagnostic suspicion.
Clinical Case: A 29-week preterm female newborn who required non-invasive mechanical ventilation until 41 weeks postmenstrual age; she presented with apnea requiring manual ventilation with a self-inflating bag and cardiac massage.
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