Brown-Vialetto-van Laere syndrome; the first Turkish case

Acta Neurol Belg. 2004 Sep;104(3):111-3.

Abstract

We describe a 14-year-old female patient with progressive ponto-bulbar palsy and deafness. The first symptom was present at the age of 9 as a difficulty in walking and then she was stable with mild clumsy walking till 14 year-old. It was noticed that she had rapidly progression gait disorder, hearing loss, difficulty in swallowing and speaking in a period of 2.5 months. Clinically, there were bilateral facial weaknesss, atrophic tongue with fasciculations, poor gag reflex, deafness, axial and appendicular hypotonia, severe muscular weakness involving muscles of neck, shoulder, and upper arms, hands with thenar and hypothenar amyotrophy. Hearing loss was documented by brainstem auditory evoked potentials. Other laboratory investigations, screening tests and imaging studing were normal. These clinical features are consistent with the Brown-Vialetto-van Laere syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bulbar Palsy, Progressive / complications
  • Bulbar Palsy, Progressive / diagnosis*
  • Deafness / complications
  • Deafness / diagnosis*
  • Female
  • Humans
  • Syndrome
  • Turkey