Artículos de revistas
The eleventh reported case of Mulvihill-Smith syndrome in the literature
Fecha
2014-01-07Registro en:
BMC Neurology. 2014 Jan 07;14(1):4
Autor
Breinis, Paulo
Alves, Flavio G
Alves, Camila A
Cintra, Rafael G
Almeida, Débora
Passarelli, Priscila C
Domingues, Camila
Gerbim, Talita
Gasparetto, Régia
de Abreu, Luiz C
Valenti, Vitor E
de Oliveira, Adriana G
de Mello Monteiro, Carlos B
Wajnzstejn, Rubens
Institución
Resumen
Abstract
Background
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.
Conclusions
Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.