文献中第 11 例报道的 Mulvihill-Smith 综合征。
The eleventh reported case of Mulvihill-Smith syndrome in the literature.
机构信息
Department of Neurology, School of Medicine of ABC, Av, Príncipe de Gales, 821 09060-650 Santo Andre, SP, Brazil.
出版信息
BMC Neurol. 2014 Jan 7;14:4. doi: 10.1186/1471-2377-14-4.
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.
背景
Mulvihill-Smith 综合征于 1975 年首次被认识。在认识到 Mulvihill-Smith 综合征后，已经描述了十个病例。
病例介绍
本文描述了第十一个病例，是一名 24 岁的男性患者，身材矮小，小头畸形伴轻度认知障碍，耳聋和过敏性结膜炎。患者因反复感染多次住院，并注意到其皮肤上有多个黑色素痣。
结论
根据我们研究中呈现的整套症状和体征，诊断该患者患有 Mulvihill-Smith 综合征。
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