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The eleventh reported case of Mulvihill-Smith syndrome in the literature

Paulo Breinis1, Flavio Geraldes Alves1, Camila AE Alves1, Rafael G Cintra1, Débora Almeida1, Priscila C Passarelli1, Camila Domingues1, Talita Gerbim1, Régia Gasparetto1, Luiz Carlos de Abreu2, Vitor E Valenti3, Adriana Gonçalves de Oliveira12, Carlos Bandeira de Mello Monteiro2 and Rubens Wajnzstejn1*

Author Affiliations

1 Department of Neurology, School of Medicine of ABC, Av. Príncipe de Gales, 821 09060-650 Santo Andre, SP, Brazil

2 Departamento de de Fisiologia, Laboratório de Delineamento de Estudos e Escrita Científica, Av. Príncipe de Gales, 821, 09060-650 Santo Andre, SP, Brazil

3 Department of Speech Language and Hearing Therapy, Faculty of Philosophy and Sciences, UNESP, Av. Hygino Muzzi Filho, 737 m, 17525-900 Marilia, SP, Brazil

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BMC Neurology 2014, 14:4  doi:10.1186/1471-2377-14-4

Published: 7 January 2014



The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.

Case presentation

This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.


Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.

Case reports; Rare diseases; Neurology