RESUMEN
The Brown-Vialetto-Van Laere syndrome or the riboflavin transporter deficiency syndrome is a neurodegenerative disorder initially reported by Brown in 1894, by Vialetto in 1936, and by Van Laere in 1966. The syndrome has been described in more than 100 patients since then. Hearing loss is the most common symptom of the syndrome, as most individuals have it through the development of the disease. Although there is a variation between the onset of hearing loss and the other possible symptoms, hearing loss usually begins in early childhood. Nevertheless, there are some cases describing hearing loss starting in adults. Hereby, we present a case report of a patient who started having the symptoms at the age of 14 and who had a mutation in the SLC52A3 gene, presenting with sensorineural hearing loss associated with cerebellar ataxia, who also underwent successful cochlear implant surgery.
Asunto(s)
Parálisis Bulbar Progresiva , Implantes Cocleares , Sordera , Pérdida Auditiva Sensorineural , Adolescente , Parálisis Bulbar Progresiva/complicaciones , Parálisis Bulbar Progresiva/diagnóstico , Parálisis Bulbar Progresiva/genética , Pérdida Auditiva Sensorineural/complicaciones , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/cirugía , Humanos , Proteínas de Transporte de Membrana/genéticaAsunto(s)
Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/patología , Mutación Missense , Transactivadores/genética , Anciano , Esclerosis Amiotrófica Lateral/diagnóstico , Brasil , Parálisis Bulbar Progresiva/diagnóstico , Parálisis Bulbar Progresiva/etiología , Parálisis Bulbar Progresiva/genética , Parálisis Bulbar Progresiva/patología , Progresión de la Enfermedad , Humanos , Masculino , Factores de TiempoRESUMEN
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.
Asunto(s)
Parálisis Bulbar Progresiva/genética , Pérdida Auditiva Sensorineural/genética , Patrón de Herencia/genética , Adolescente , Atrofia , Parálisis Bulbar Progresiva/diagnóstico , Femenino , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Linaje , SíndromeRESUMEN
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.
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 seqüências ponderadas em T2 e FLAIR (fluid attenuated inversion recovery).
Asunto(s)
Adolescente , Femenino , Humanos , Persona de Mediana Edad , Parálisis Bulbar Progresiva/genética , Pérdida Auditiva Sensorineural/genética , Patrón de Herencia/genética , Atrofia , Parálisis Bulbar Progresiva/diagnóstico , Pérdida Auditiva Sensorineural/diagnóstico , Imagen por Resonancia Magnética , Linaje , SíndromeRESUMEN
Brown-Vialetto-van Laere syndrome is a rare hereditary or sporadic degenerative disorder characterised by progressive sensoryneural deafness, followed or accompanied by cranial nerve palsies. The anterior horn cells and the optic pathways may be involved in some cases. We report two cases, and comment the differential diagnosis and the relationships of this syndrome to the muscle spinal atrophies and the hereditary deafness.
Asunto(s)
Parálisis Bulbar Progresiva/complicaciones , Sordera/etiología , Adolescente , Parálisis Bulbar Progresiva/genética , Niño , Sordera/genética , Femenino , Humanos , Masculino , SíndromeRESUMEN
A síndrome de Brown-Vialleto-van Laere é entidade degenerativa hereditária ou esporádica, rara, caracterizada por surdez neuro-sensorial seguida ou acompanhada por uma variedade de alteraçoes de nervos cranianos, podendo ainda ocorrer acometimento de corno anterior e vias ópticas. Relatamos dois casos de discutimos o diagnóstico diferencial da síndrome com as atrofias espinhais e surdez hereditária.