Bulbo-pontine paralysis with deafness: the Vialetto-Van Laere syndrome.
نویسندگان
چکیده
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.
منابع مشابه
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance.
A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it cou...
متن کاملPonto-bulbar palsy with deafness (Vialetto-Van Laere syndrome).
The syndrome described by Brown(l) Vialetto(2) and Van Laere(3) is a rare, often familial, characterized by bilateral nerve deafness followed or accompanied by involvement of various motor cranial nerves, e.g., 7th and 9th to 12th, rarely 3rd, 5th and 6th. On rare occasions, there may also be involvement of spinal motor nerves and less commonly of upper motor neurons. The onset of the disease i...
متن کاملA Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC...
متن کاملBrown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified ...
متن کاملBrown-Vialetto-van Laere syndrome; the first Turkish case.
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 b...
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عنوان ژورنال:
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
دوره 18 3 شماره
صفحات -
تاریخ انتشار 1991