Results 81 to 90 of about 345 (105)

Cardiac arrest in a patient with Brown‐Vialetto‐Van Laere syndrome

Amyotrophic Lateral Sclerosis, 2006
We report the case of a 22‐y‐old female with Brown‐Vialetto‐Van Laere syndrome who experienced sudden out‐of‐hospital cardiac arrest at night, witnessed by her mother.
Alexis Descatha, Sybille Goddet, Jérome Aboab, Jérémy Allary, Alain Gergereau, Michel Baer, Dominique Fletcher   +6 more
openaire   +1 more source

Riboflavin Transporter Deficiency or Brown-Vialetto-Van Laere Syndrome

Enrico Bertini, Claudia Compagnucci, Keith Massey   +2 more
exaly   +2 more sources

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
openaire   +2 more sources

[Case report Brown-Vialetto-Van laere syndrome].

Minerva anestesiologica, 2003
A case of a young man (36 years old) suffering from a progressive bulbo-pontine palsy, bilateral central deafness and respiratory failure, clinically known as Brown-Vialetto-Van Laere syndrome (BVVL) is reported. The illness occurred at 24 years and, after a period of quiescence of 12 years, led to a serious dependence from mechanical ventilation.
S, Introini, G M, Sasso, G, Moioli, W L, Morandini   +3 more
openaire   +1 more source

Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2013
The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing C20orf54 ...
BANDETTINI DI POGGIO, MONICA LAURA, Monti Bragadin M, Reni L, Doria Lamba L, Cereda C, PARDINI, MATTEO, ROCCATAGLIATA, LUCA, Rossi A, SCHENONE, ANGELO   +8 more
openaire   +2 more sources

Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology.

The Journal of laryngology and otology, 2005
Brown-Vialetto-Van Laere syndrome, or pontobulbar palsy with deafness, is a rare disorder characterized by bilateral sensorineural deafness and a variety of cranial nerve disorders usually involving the motor components of the lower cranial nerves. Less commonly, spinal motor nerves and upper motor neurons are involved. Familial and sporadic cases have
H V, Prabhu, M J K, Brown
openaire   +1 more source

[A case of Brown-Vialetto-van Laere (BVVL) syndrome in Japan].

Rinsho shinkeigaku = Clinical neurology, 2005
Here we report a sixty-year-old woman of Brown-Vialetto-van Laere (BVVL) syndrome in Japan. She had sensorineural deafness, weakness and atrophy of her extremities from 15 years of age. Her neurological symptoms slowly progressed. She first visited our hospital in 1993 when she was 49 years old.
Hiroshi, Nemoto, Shingo, Konno, Nobuatsu, Nomoto, Nobuo, Wakata, Teruyuki, Kurihara   +4 more
openaire   +1 more source

Brown-Vialetto-van Laere syndrome; the first Turkish case.

Acta neurologica Belgica, 2005
We describe a 14-year-old female patient with progressive ponto-bulbar palsy and deafness. The first symptom was present at the age of 9 as a difficulty in walking and then she was stable with mild clumsy walking till 14 year-old. It was noticed that she had rapidly progression gait disorder, hearing loss, difficulty in swallowing and speaking in a ...
Omer Faruk, Aydin, Dilek, Ozçelikel, Nesrin, Senbil, Y K Yavuz, Gürer   +3 more
openaire   +1 more source

Brown-Vialetto-Van Laere-Syndrom

Aktuelle Neurologie, 2001
P. P. Urban, H. C. Hopf
openaire   +1 more source

Autosomal dominant Brown–Vialetto–Van Laere syndrome with UBQLN1 mutation

Journal of the Neurological Sciences, 2013
R Spataro, FL Conforti, R Mazzei, V La Bella   +3 more
openaire   +4 more sources