Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0155339 (Brown)
 12,436 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a female presenting with a progressive bulbar palsy, deafness and respiratory failure necessitating long-term ventilation. These clinical features are consistent with the Brown-Vialetto-van Laere syndrome, a rare, sometimes inherited progressive ponto-bulbar neuronopathy with associated deafness. This case provides further evidence of the genetic heterogeneity of the syndrome and we describe a previously unreported form of treatment which had negative results. We suggest that improved recognition of this rare syndrome is essential to provide aetiological clues and we describe the worthwhile symptomatic improvement which can be achieved with simple supportive measures.
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PMID:The Brown-Vialetto-van Laere syndrome: a case report and literature review. 2428 29

Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood-onset motor neuron disease (MND) with hearing loss, formerly described as Brown-Vialetto-Van-Lear syndrome. We describe a 18-year-old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs weakness. Only one heterozygous SLC52A3 mutation was detected, but presence of a sub-clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD. As RTD probably has a larger phenotypic spectrum than expected, a high dose riboflavin trial should be discussed in young-onset MND.
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PMID:A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment. 3202 82