Riboflavin treatment in genetically proven Brown–Vialetto–Van Laere syndrome
نویسندگان
چکیده
منابع مشابه
pfeiffer type i syndrome: a genetically proven case report
objective pfeiffer syndrome is as rare as apert syndrome in the western population. this condition is very rare in the asian population. at the best of our knowledge this is the first genetically proven case report from iran. the authors report with a review of literature, the case of a infant with pfeiffer syndrome, manifested by lacunar skull, ventriculomegaly, bicoronal craniosynostosis,fron...
متن کاملRemarkable motor recovery after riboflavin therapy in adult-onset Brown—Vialetto—Van Laere syndrome
The clinical diagnosis of Brown-Vialetto-Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. DNA sequ...
متن کاملBrown-Vialetto-Van Laere syndrome
The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with s...
متن کاملMadras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome
INTRODUCTION Madras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India. The characteristic features are onset in young, weakness and wasting of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. There is a considerable overlap in the phenotype of MMND with Brown-Via...
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A 28 year old male with a background of abdominal tuberculosis living in Tekhand slum district of Delhi presented with two and half year history of recurrent loose stools following tingling sensation in the upper and lower limbs, as well as weakness in the lower limbs. He also reports erectile dysfunction and postural hypotension. He had lost weight : kilos. Upon examination the patient has los...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2018
ISSN: 1817-1745
DOI: 10.4103/jpn.jpn_131_17