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

Gallai, Virgilio; Hockaday, Judith M.; Hughes, John T.; Lane, Devin; Oppenheimer, D. R.; Rushworth, Geoffrey

doi:10.1016/0022-510x(81)90172-6

Cited by 52 publications

(45 citation statements)

References 6 publications

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“…The exception is Gallai's case 14 with no evidence of hearing loss during the lifetime, although autopsy showed axonal loss on the 8 th nerve roots. Interval of time between hearing loss and the involvement of other cranial nerves has been variable from simultaneous involvement (5 cases) [14][15][16] to a latency of 30 years 17 as shown in Table. In our series, the time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years.…”

Section: Discussionmentioning

confidence: 97%

“…Interval of time between hearing loss and the involvement of other cranial nerves has been variable from simultaneous involvement (5 cases) [14][15][16] to a latency of 30 years 17 as shown in Table. In our series, the time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. The disease progresses from a very slow course with motor remitting and relapses to death 8 .…”

Section: Discussionmentioning

confidence: 99%

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A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

Malheiros

Camargos

Oliveira

et al. 2007

Arq. Neuro-Psiquiatr.

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-We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.KEY WORDS: Brown-Vialetto-van Laere syndrome, autosomal recessive inheritance, hearing impairment.Descrição de uma família brasileira com síndrome de Brown-Vialetto-van Laere com herança autossômica recessiva RESUMO -Descrevemos a primeira família brasileira com síndrome de Brown-Vialetto-van Laere. Os pacientes são três irmãs e uma sobrinha provenientes de casamentos consangüíneos, o que fortalece a hipótese de transmissão autossômica recessiva. A idade de aparecimento dos sintomas variou entre 12 e 20 anos. A latência entre a perda auditiva e o envolvimento de outros nervos cranianos variou de 3 a 12 anos. O estudo de imagem por ressonância magnética demonstrou atrofia bulbar além de alteração de sinal nas seqüên-cias ponderadas em T2 e FLAIR (fluid attenuated inversion recovery).PALAVRAS-CHAVE: síndrome de Brown-Vialetto-van Laere, herança autossômica recessiva, surdez.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

Malheiros

Camargos

Oliveira

et al. 2007

Arq. Neuro-Psiquiatr.

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“…Autopsies have been carried out on 3 cases: a 25 year old woman, 9 a 27 year old woman 10 and a 2 year old boy. 11 The 8th nerve showed loss of axons and the ventral cochlear nucleus loss of neurons and gliosis. There was loss of motoneurons in the nuclei of the 7th and 10th and 12th cranial nerves and, in the adult patients, in the nuclei of the 3rd, 5th and 6th cranial nerves as well.…”

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confidence: 98%

“…1114 A sural nerve biopsy in a 15 year old girl 11 showed only slight depletion of nerve fibers. Autopsies have been carried out on 3 cases: a 25 year old woman, 9 a 27 year old woman 10 and a 2 year old boy.…”

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confidence: 99%

“…The syndrome is considered to be hereditary and has been reported in 25 patients. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] Most of the reported cases have come from Europe and North Africa (especially Mediterranean countries such as Portugal, Spain and Tunisia) although a case occurred in a black woman in Brazil. 13 A related syndrome has been described in India and was named the Madras form of anterior horn cell disease.…”

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Bulbo-pontine Paralysis with Deafness: the Vialetto-Van Laere Syndrome

Abarbanel

Ashby

Marquez-Julio

et al. 1991

Can. j. neurol. sci.

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A Caucasian girl developed slowly progressive sensory neural deafness and bulbar and spinal muscle weakness typical of the Vialetto-Van Laere syndrome. As the condition progressed the major disabilities became dysphagia, respiratory muscle weakness and postural hypotension. Treatment with gastrostomy feedings, oxygen and fludrocortisone acetate produced worthwhile functional improvement. RESUME: Paralysie bulboprotuberantielle avec surdite: syndrome de Vialetto-Van Laere. Nous decrivons le cas d'une fille de race caucasienne qui a deVeloppe une surdite neurale lentement progressive et une faiblesse musculaire bulbaire et spinale typique du syndrome de Vialetto-Van Laere. Avec la progression de la maladie, la dysphagie, la faiblesse des muscles respiratoires et l'hypotension posturale ont ete les signes les plus invalidants. L'alimentation par gastrostomie, I'administration d'oxygene et d'acetate de fludrocortisone ont entraine des ameliorations fonctionnelles significatives.Can. J. Neurol. Sci. 1991; 18:349-351 Chronic, progressive bulbo-pontine paralysis associated with sensory neural deafness is a rare disorder also called the Vialetto-Van Laere syndrome. The syndrome is considered to be hereditary and has been reported in 25 patients. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] Most of the reported cases have come from Europe and North Africa (especially Mediterranean countries such as Portugal, Spain and Tunisia) although a case occurred in a black woman in Brazil. 13 A related syndrome has been described in India and was named the Madras form of anterior horn cell disease. 15 ' 16 In this communication we report the clinical and electrophysiological findings of a Canadian patient with VialettoVan Laere syndrome. CASE HISTORYThis Caucasian girl had always been thin. At the age of 12 when riding horses she was aware of weakness of dorsiflexion of the right foot. At the age of 19 she began to have progressive bilateral hearing loss, her face felt "stiff, her voice became nasal and she began choking on liquids. She was admitted to a neurosurgical service and found to have bilateral sensorineural deafness, and weakness of the face and bulbar muscles. Brainstem glioma and multiple sclerosis were considered. MRI scan and 4 vessel angiography were negative. A neurological consultation was requested. Some weakness of the small hand muscles was noted and the diagnosis of Vialetto-Van Laere syndrome was raised. By the age of 21 she had developed drooping of her eyelids and had to tilt her head back in order to see when driving. She now had more obvious weakness of the facial muscles and small muscles of the hand. At age 22 she developed shortness of breath on exertion, postural hypotension, vertigo with sudden head movements and began to spend most of her time in a horizontal posture. There was no family history of neurological disorders and her parents were not related.On examination at the age of 23 she had diffuse loss of muscle bulk (weight 37.8 kg, height 168 cm). The blood pressure supine was 80...

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Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

Mégarbané¹,

Desguerres

Rizkallah

et al. 2000

Am. J. Med. Genet.

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Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor nerves and upper motor neurons. Familial and sporadic cases have been reported. Based on particular evidence, autosomal recessive, autosomal dominant, and X-linked inheritance, as well as autoimmune origin have been considered. We report on a large inbred Lebanese family with four patients of both sexes, strongly suggesting autosomal recessive inheritance.

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

Cited by 52 publications

References 6 publications

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

Bulbo-pontine Paralysis with Deafness: the Vialetto-Van Laere Syndrome

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

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