Results 91 to 100 of about 7,746,465 (115)

Brown–Vialetto–Van Laere [BVVL] Syndrome

2017
Brown–Vialetto–Van Laere (BVVL) syndrome results in childhood-onset, progressive dysfunction of the anterior horn cells with sensorineural hearing loss. The brunt of the disease is often on the cranial nerves but limb amyotrophy can occur. Peripheral sensory involvement has been recently described.
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
openaire   +1 more source

Brown-Vialetto-Van Laere syndrome: a 28-year follow-up

Journal of Neurology, Neurosurgery & Psychiatry, 2015
In 1987 Summers et al 1 described a 14-year-old girl with neurogenic bulbospinal muscular atrophy and sensorineural deafness. They discussed the overlap of clinical features in Brown-Vialetto-Van Laere syndrome (BVVLS) and Madras motor neuron disease (MMND) described by Jagganathan.2 The patient was considered to have BVVLS and was among the first 20 ...
A, Davis, D, Josifova, S, Lloyd-Owen, A, Radunovic, M, Swash   +4 more
openaire   +2 more sources

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome

Neuromuscular Disorders, 2021
Sandhoff disease is a rare fatal infantile neurologic disorder. Adult onset Sandhoff is even rarer. Variability of clinical features in adult onset Sandhoff patients and overlaps between these and features of other neurologic diseases have sometimes led to mis-diagnosis.
Marzieh, Khani, Hosein, Shamshiri, Hamidreza, Moazzeni, Hanieh, Taheri, Hamid, Ahmadieh, Afagh, Alavi, Niloofar, Farboodi, Shahriar, Nafissi, Elahe, Elahi   +8 more
openaire   +2 more sources

Brown–Vialetto–Van Laere syndrome: A rare case report of MND mimic

Neurology India, 2020
Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare disorder characterized by progressive neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively.
P, Kranthi, Butchi Raju, Garuda, S, Gopi, T Sateesh, Kumar   +3 more
openaire   +2 more sources

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

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

[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: 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-Syndrom

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