Brown–Vialetto–Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

Dipti, Subrahmanian; Childs, Anne Marie; Livingston, John H.; Aggarwal, Anubha; Miller, M G; Williams, Chris; Crow, Yanick J.

doi:10.1016/j.braindev.2004.10.003

Cited by 44 publications

(53 citation statements)

References 11 publications

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“…Dyspnea has been reported in sporadic and familial cases of BVVL, especially in younger male patients 18,21 . This finding can be severe although there are reports of spontaneous improvement 8 .…”

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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-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: 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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“…10 Fazio Londe syndrome has clinical features very similar to those of BVVLS, and they are considered by some to be a single disease entity. 11,12 The most distinguishable feature between the two disorders is absence of deafness in Fazio Londe syndrome-affected patients. 4 C20orf54 is positioned on chromosome 20p13, and contains five exons.…”

Section: Introductionmentioning

confidence: 99%

Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients

et al. 2012

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“…The hearing loss is accompanied or followed by a variety of cranial nerve palsies, usually involving the motor components of the 7th and 9th-12th cranial nerves, and less commonly the spinal motor nerves and the upper motor neurons [1][2][3]. Approximately forty cases of BVVL syndrome have been reported since the first description of this disorder was made by Brown in 1894 [3,4].…”

Section: Introductionmentioning

confidence: 99%

“…Approximately forty cases of BVVL syndrome have been reported since the first description of this disorder was made by Brown in 1894 [3,4]. Even though the etiology of the BVVL syndrome is not well understood, familial and sporadic cases have been reported, and the age of symptom onset ranges from infancy to early adulthood [1,3,5]. Females are more commonly affected than males [2,3].…”

Section: Introductionmentioning

confidence: 99%

“…Breathing abnormalities have been reported in some cases of the BVVL syndrome which may be fatal [1][2][3]6,7]; however, there have been no previous reports regarding sleepdisordered breathing (SDB) in this disorder. We describe a unique case of the BVVL syndrome in which the patient exhibited the common clinical features, but more importantly, had the unusual symptom of severe SDB, as demonstrated by polysomnography (PSG).…”

Section: Introductionmentioning

confidence: 99%

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Severe sleep-disordered breathing in a patient with Brown–Vialetto–Van Laere syndrome: Polysomnographic findings

Miao

Lin

et al. 2007

Journal of the Neurological Sciences

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Brown–Vialetto–Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

Cited by 44 publications

References 11 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

Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients

Severe sleep-disordered breathing in a patient with Brown–Vialetto–Van Laere syndrome: Polysomnographic findings

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