Motor neuron disease in a young female, Madras pattern or Brown-Vialetto Van Laere syndrome? - A diagnostic dilemma
DOI:
https://doi.org/10.18203/issn.2454-2156.IntJSciRep20150959Keywords:
BVVL syndrome, Madras motor neuron diseaseAbstract
We report a case of a 14 year old female patient with progressive ponto-bulbar palsy, bilateral deafness and distal muscle weakness with wasting. This pattern is seen in Brown-Vialetto-Van Laere which is an extremely rare neurological disorder of unknown etiology with less than 80 cases being reported till date. The syndrome was first described in 1894 by Brown and subsequently by Vialetto in 1936 and Van Laere in 1966. A similar pattern is noted in the Madras form of motor neuron disease which is seen in South India. With the available literature and data it's difficult to differentiate between these entities.
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References
Sivakumar Sathasivam. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008;3:9.
Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis. 2012;7:83.
Sabatelli M, Madia F, Conte A, Luigetti M, Zollino M, Mancuso I, et al. Natural history of young-adult amyotrophic lateral sclerosis. Neurology. 2008;71:876-81.
Summers BA, Swash M, Schwartz MS, Ingram DA. Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van Laere syndrome or Madras-type motor neuron disease? J Neurol. 1987;234:440-2.
Nalini A, Yamini BK, Gayatri N, Thennarasu K, Gope R. Familial Madras motor neuron disease (FMMND): study of 15 families from southern India. J Neurol Sci. 2006 Dec;250(1-2):140-6.
Hawkins SA, Nevin NC, Harding AE. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. J Med Genet. 1990;27:176.
Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, et al. Brown-Vialetto- Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011;34:159-64.
Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet. 2010;86:485-9.
Anand G, Hasan N, Jayapal S, Huma Z, Ali T, Hull J, et al. Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev Med Child Neurol. 2012;54:187-9.
Koy A, Pillekamp F, Hoehn T, Waterham H, Klee D, Mayatepek E, et al. Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. Pediatr Neurol. 2012;46:407-9.