Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome

Grandis, D. De; Passadore, P.; Chinaglia, Magda; Brazzo, F; Ravenni, Roberta; Cudia, Paola

doi:10.1016/j.nmd.2005.05.003

Cited by 17 publications

(32 citation statements)

References 9 publications

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“…This finding can be severe although there are reports of spontaneous improvement 8 . Cases 1 and 3 presented with dyspnea as a fluctuating symptom, although with mild functional impairment and normal pulmonary function tests.…”

Section: Discussionmentioning

confidence: 96%

“…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 . Fazio-Londe disease (Bulbar Hereditary Neuropathy type II) is the closest related syndrome but considered distinct from BVVL syndrome because of the absence of deafness 18 .…”

Section: Discussionmentioning

confidence: 99%

“…Since its first description at 18941 there are about 43 cases reported in the medical literature [2][3][4][5][6][7][8] . The disease is characterized by neurosensorial deafness with a variable involvement of cranial nerves, usually motor components of seventh, ninth to twelfth nerves; besides an upper motor neuropathy.…”

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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: 96%

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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“…20 Even possible autosomal dominant inheritance of BVVLS has been described in a few families. 18,19,22,23 The possibility that a single mutated allele in a gene can be cause of disease when usually two mutated alleles are causative has been considered for some neurologic disorders, such as for Parkinson's disease with respect to PARKN and for some myopathies such as limb-girdle muscular dystrophy with respect to TTN. [24][25][26][27] The case of SOD1 mutations with respect to amyotrophic lateral sclerosis, which like BVVLS is a motor neuron disorder, is also interesting.…”

Section: Four Novel Mutations In the Known Bvvls-causing Gene C20orf54mentioning

confidence: 99%

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

et al. 2012

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“…1 Most familial cases have an autosomal recessive inheritance pattern, with a few cases showing autosomal dominant or X-linked inheritance. [4][5][6] Sensorineural hearing loss is a common presenting symptom, although the disease can also present with subtle neurological features such as limb weakness and slurred speech. The disease course is unpredictable, with death occurring in 40 per cent of cases within 5 years of onset; however, a similar percentage of patients survive for more than 10 years after onset of the first symptom.…”

Section: Discussionmentioning

confidence: 99%

Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation

et al. 2015

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Background: Brown-Vialetto-Van Laere syndrome is a rare neurological disorder characterised by pontobulbar palsy and sensorineural hearing loss. Hearing rehabilitation continues to be a challenge because the exact lesion site is unknown.Case report: We examined the clinical and audiological profiles of a case series comprising four siblings with Brown-Vialetto-Van Laere syndrome who had decreased hearing and poor speech discrimination. Audiological investigations revealed normal otoacoustic emissions with absent auditory brainstem responses and middle-ear reflexes in sensorineural hearing loss, suggestive of auditory neuropathy spectrum disorder.Conclusion: The sensorineural hearing loss in Brown-Vialetto-Van Laere syndrome patients is a retrocochlear pathology resembling auditory neuropathy spectrum disorder, with the lesion being most probably of post-synaptic origin. Early cochlear implantation along with high-dose riboflavin represents a possible rehabilitation therapy. However, further research is needed to confirm this. This report emphasises the need for a thorough neurological evaluation of auditory neuropathy spectrum disorder patients.

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Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome

Cited by 17 publications

References 9 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

Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation

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