Motor neuron disease in a young female, Madras pattern or Brown-Vialetto Van Laere syndrome? - A diagnostic dilemma

Venkata Durga Sasishekar T; Sai Krishna Y; Sathya Sahi A; Keerthi Vyas

doi:10.18203/issn.2454-2156.IntJSciRep20150959

Authors

Venkata Durga Sasishekar T Department of Medicine, Dr. Pinnamaneni Siddhartha Institute of Medical Sciences & Research Foundation, Chinoutpalli, Gannavaram, Krishna Dt., Andhra Pradesh
Sai Krishna Y Department of Medicine, Dr. Pinnamaneni Siddhartha Institute of Medical Sciences & Research Foundation, Chinoutpalli, Gannavaram, Krishna Dt., Andhra Pradesh
Sathya Sahi A Department of Medicine, Dr. Pinnamaneni Siddhartha Institute of Medical Sciences & Research Foundation, Chinoutpalli, Gannavaram, Krishna Dt., Andhra Pradesh
Keerthi Vyas Department of Medicine, Dr. Pinnamaneni Siddhartha Institute of Medical Sciences & Research Foundation, Chinoutpalli, Gannavaram, Krishna Dt., Andhra Pradesh

DOI:

https://doi.org/10.18203/issn.2454-2156.IntJSciRep20150959

Keywords:

BVVL syndrome, Madras motor neuron disease

Abstract

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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