Results 41 to 50 of about 6,256 (136)

Multiple sclerosis and syringomyelia – a case report

open access: yesAktualności Neurologiczne, 2019
Syringomyelia is associated with more than two-thirds of Chiari malformation type I cases, and rarely with intramedullary neoplasm or post-traumatic cavitations.
Katarzyna Kapica-Topczewska   +5 more
doaj   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

open access: yesClinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda   +10 more
wiley   +1 more source

Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment) [PDF]

open access: yesBMC Musculoskeletal Disorders, 2009
Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal.
García-Ramos Rocío   +14 more
doaj   +1 more source

Long‐term outcomes in patients with postural orthostatic tachycardia syndrome with an average follow‐up of over 20 years

open access: yesJournal of Internal Medicine, EarlyView.
Abstract Background Postural orthostatic tachycardia syndrome (POTS) is a chronic form of orthostatic intolerance that primarily affects female patients. There are scarce data evaluating the long‐term outcomes in POTS. Objectives This study sought to evaluate the long‐term impacts of POTS over multiple decades in adult patients.
Kate M. Bourne   +11 more
wiley   +1 more source

Chiari type I malformation with cervicothoracic syringomyelia subterfuge as flail arm syndrome

open access: yesNeurology International, 2017
Chiari type I malformation with cervicothoracic syringomyelia although very common in clinical practice usually in children can progress slowly and mimic muscular dystrophies in adulthood.
Zhi Gang  Lan   +3 more
doaj   +1 more source

Generalised absence seizures in Cavalier King Charles Spaniels presenting with paroxysms: eight cases (2016‐2025)

open access: yesJournal of Small Animal Practice, EarlyView.
Objectives To describe the clinical and electroencephalographic findings associated with absence seizures in a population of Cavalier King Charles Spaniels. Materials and Methods This was a retrospective descriptive case series of Cavalier King Charles Spaniels diagnosed with absence seizures at two veterinary referral hospitals between 2016 and 2025 ...
R. Paterson   +10 more
wiley   +1 more source

Spinal neuraxial anaesthesia for caesarean section in a parturient with type I Arnold Chiari malformation and syringomyelia

open access: yesSAGE Open Medical Case Reports, 2018
Introduction: Type 1 Arnold Chiari malformation is associated with prolapse of the cerebellar tonsils into or below the level of the foramen magnum and is usually diagnosed in adults.
Miqi Mavis Teo
doaj   +1 more source

Headache and Chiari Type I Malformation

open access: yesPediatric Neurology Briefs, 1992
Headache was the presenting symptom in 5 of 6 patients with Chiari type malformation, reported from the Departments of Neurology and Neurosurgery, Trondheim University Hospital, Norway.
J Gordon Millichap
doaj   +1 more source

Outcomes of 87 small‐breed dogs surgically treated for Chiari‐like malformation and syringomyelia

open access: yesVeterinary Surgery, EarlyView.
Abstract Objective To report the outcomes of titanium mesh (TM) cranioplasty without polymethylmethacrylate (PMMA), incorporating a deliberate gap between the foramen magnum decompression (FMD) surface and the TM, in small‐breed dogs with Chiari‐like malformation and syringomyelia (CM/SM). Study design Retrospective clinical study.
Sung Su Park, Ji Young Park, Ho Jae Han
wiley   +1 more source

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report

open access: yesFrontiers in Pediatrics
BackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations.
Aelita Kamalova   +12 more
doaj   +1 more source

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