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首页> 外文期刊>Journal of pediatric endocrinology & metabolism: JPEM >Evolving diagnosis of McCune-Albright syndrome. atypical presentation and follow up.
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Evolving diagnosis of McCune-Albright syndrome. atypical presentation and follow up.

机译：不断发展的McCune-Albright综合征诊断。非典型的陈述和跟进。

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摘要

The diagnosis of McCune-Albright syndrome has classically consisted of the triad of gonadotropin-independent precocious puberty (GIPP), cafe-au-lait (CAL) spots and fibrous dysplasia of bone. Atypical or incomplete forms of the syndrome have been reported in the literature, with only one or two of the classical symptoms present, and the diagnosis being made after molecular analysis. Therefore not all three classical findings need to be present for the diagnosis to be made. We report a patient who was suspected of having McCune-Albright syndrome after presenting initially with GIPP at age 2 years 10 months. At age 10 years 1 month, a CAL spot appeared and, after reviewing previous imaging studies, a bone cyst was found. Molecular analysis in peripheral leucocytes was negative. We reviewed similar cases described in the literature.
机译：McCune-Albright综合征的诊断通常包括与促性腺激素无关的性早熟（GIPP），cafe-au-lait（CAL）点和骨纤维增生三联征。文献报道了该综合征的非典型或不完整形式，仅出现一种或两种典型症状，并在分子分析后进行诊断。因此，并非所有三个经典发现都需要存在才能进行诊断。我们报告了一名在2岁10个月时初次接受GIPP治疗后被怀疑患有McCune-Albright综合征的患者。在10岁1个月大时出现CAL点，并且在回顾先前的影像学研究后发现了骨囊肿。外周血白细胞的分子分析为阴性。我们回顾了文献中描述的类似案例。

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