Abstract
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.
Highlights
The Mulvihill-Smith Syndrome was first recognized in 1975
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
Príncipe de Gales, 821, 09060-650 Santo Andre, SP, Brazil Full list of author information is available at the end of the article woman, who had two miscarriages, did not do prenatal care and smoked during pregnancy. His parents were not consanguineous and he was delivered through vaginal delivery without perinatal complications, and born at term with adequate weight. His neurodevelopment was normal until five years of age, when the patient, previously healthy, presented with vomiting and diarrhea lasting about a month, staying in hospital at the beginning of the clinical features to correct dehydration
Summary
The Mulvihill-Smith Syndrome was first recognized in 1975 by David Smith Weyhe (*1926, ł1981), professor of Pediatrics at the University of Washington, and his student and future professor of Genetics at the University of Oklahoma, John Mulvihill [1]. The first case described was a male patient, 17 years-old, with short stature, microcephaly, hypodontia, recurrent infections, intellectual impairment, with multiple melanocytic nevi in the skin and insulin-dependent diabetes mellitus [1]. He was the eighth child of a 32 year-old His neurodevelopment was normal until five years of age, when the patient, previously healthy, presented with vomiting and diarrhea lasting about a month, staying in hospital at the beginning of the clinical features to correct dehydration. After this episode the mother told that he started to lose weight and ceased growth.
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