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Cor pulmonale in a patient with Brown–Vialetto–Van Laere syndrome: A case report

Journal of the Neurological Sciences, 2011
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by sensorineural hearing loss and multiple cranial nerve palsies, usually involving the VIIth and IXth to XIIth cranial nerves. We describe the clinical and pathological features of a 33-year-old woman with BVVLS. The patient developed progressive exertional dyspnea,
Francisco Pereira, da Silva-Júnior, Rafael de Deus, Moura, Sérgio, Rosemberg, Paulo Eurípedes, Marchiori, Luiz Henrique Martins, Castro   +4 more
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Clinical Features and Neurophysiological Follow-Up in a Case of Brown-Vialetto-Van Laere Syndrome

Neuromuscular Disorders, 2005
Brown-Vialetto-Van Laere syndrome is a rare disease of unknown origin commonly considered as part of the large group of motor neuron diseases. The course is quite variable: it may be quickly fatal or protracted, with relapsing phases followed by periods of arrest and even partial improvement. We describe a case of Brown-Vialetto-Van Laere syndrome with
D, De Grandis, P, Passadore, M, Chinaglia, F, Brazzo, R, Ravenni, P, Cudia   +5 more
exaly   +3 more sources

Brown-Vialetto-Van Laere Syndrome: A Riboflavin Responsive Neuronopathy of Infancy With Singular Features

European Journal of Paediatric Neurology, 2014
We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, progressive bulbar palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit.
Carlotta Spagnoli, Shamima Rahman, Carlos de Sousa   +2 more
exaly   +3 more sources

A Novel Compound Heterozygous Mutation of C20orf54 Gene Associated With Brown–Vialetto–Van Laere Syndrome in an Italian Family

European Journal of Neurology, 2013
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian ...
Luca Roccatagliata, Cristina Cereda, Matteo Pardini   +2 more
exaly   +2 more sources

Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature

Journal of Child Neurology, 2017
We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months.
Jean-Baptiste le Pichon, Rob Forsyth, Keith Coffman   +2 more
exaly   +2 more sources

Brown‐Vialetto‐Van Laere Syndrome

Neuropathology and Applied Neurobiology, 1993
The clinical and pathological findings of a male with the Brown—Vialetto—Van Laere syndrome are described. This rare and fatal affection of the nervous system involves mainly the brain stem with the prominent and early manifestation of sensorineural deafness.
D A, Francis, J R, Ponsford, C M, Wiles, P K, Thomas, L W, Duchen   +4 more
openaire   +2 more sources

Cochlear Implantation in Brown–Vialetto–Van-Laere syndrome

Journal of Laryngology and Otology, 2011
OBJECTIVE: To report outcomes for the first known cochlear implantation procedures in two patients with Brown-Vialetto-Van-Laere syndrome. PATIENTS: Two adult patients (a brother and sister) with post-lingual sensorineural deafness associated with ...
J G Toner
exaly   +1 more source

Mental retardation associated with Brown-Vialetto-Van Laere syndromeSirs

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2003
(2003). Mental retardation associated with Brown‐Vialetto‐Van Laere syndromeSirs. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders: Vol. 4, No. 1, pp. 52-53.
Filiz Koç A., Bozdemir H., Sarica Y.
openaire   +2 more sources

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Seminars in Pediatric Neurology, 2018
Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency. Mutations in SLC52A2 and SLC52A3, encoding riboflavin transporters RFVT2 and RFVT3, respectively, are the genetic basis of this disorder, often referred to as riboflavin transporter
Ian R, Woodcock, Manoj P, Menezes, Lee, Coleman, Joy, Yaplito-Lee, Heidi, Peters, Susan M, White, Rachel, Stapleton, Dean G, Phelan, Belinda, Chong, Sebastian, Lunke, Zornitza, Stark, James, Pitt, Monique M, Ryan, Colin, Robertson, Eppie M, Yiu   +14 more
openaire   +2 more sources

Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome)

Journal of the Neurological Sciences, 1981
The authors describe the clinical and electrophysiological features in 2 cases of ponto-bulbar palsy with deafness, and the clinical course and post-mortem findings in a sibling of one of these, who died in infancy, and who appears to have suffered from the same disease.
V, Gallai, J M, Hockaday, J T, Hughes, D J, Lane, D R, Oppenheimer, G, Rushworth   +5 more
openaire   +2 more sources