• Bmc Neurol · Jan 2014

    Review Case Reports

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

    • Paulo Breinis, Flavio Geraldes Alves, Camila A E Alves, Rafael G Cintra, Débora Almeida, Priscila C Passarelli, Camila Domingues, Talita Gerbim, Régia Gasparetto, Luiz Carlos de Abreu, Vitor E Valenti, Adriana Gonçalves de Oliveira, Carlos Bandeira de Mello Monteiro, and Rubens Wajnzstejn.
    • Department of Neurology, School of Medicine of ABC, Av, Príncipe de Gales, 821 09060-650 Santo Andre, SP, Brazil. rubenswajnsztejn@terra.com.br.
    • Bmc Neurol. 2014 Jan 7; 14: 4.

    BackgroundThe Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.Case PresentationThis 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.ConclusionsBased on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.

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