Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria
Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria
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戈麦斯-洛佩斯-埃尔南德斯综合征：诊断标准的重新评估
DOI：
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发表时间：
2010
影响因子：
3.6
通讯作者：
A. Poretti
中科院分区：
文献类型：
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作者：
B. Sukhudyan;V. Jaladyan;G. Melikyan;J. Schlump;E. Boltshauser;A. Poretti
Gómez-López-Hernández综合征(GLHS)是一种罕见且可能被低估的疾病。到目前为止，已报告了21例患者，均为零星观察。我们报告了另外6名患者。GLHS的标志性三联症，也称为小脑三叉神经真皮发育不良，包括菱形脑融合、三叉神经麻醉(经常导致角膜混浊)和双侧顶叶或顶枕脱发。我们的患者有菱形脑突触和脱发，但没有三叉神经功能障碍。在这方面，术语小脑三叉神经皮肤发育不良具有潜在的误导性。总而言之，只有菱形脑突触和脱发在GLHS中持续存在，并且是必需的诊断标准，而三叉神经麻醉、畸形特征和共济失调是不一致的发现。诊断GLHS需要高度的怀疑指数，尤其是因为脱发往往被周围的头皮毛发掩盖。
Gómez–López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients. The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia. Our patients had rhombencephalosynapsis and alopecia, but none had trigeminal dysfunction. In this respect, the term cerebellotrigeminal dermal dysplasia is potentially misleading. In conclusion, only rhombencephalosynapsis and alopecia are consistently present in GLHS and are required diagnostic criteria, while trigeminal anesthesia, dysmorphic features, and ataxia are inconsistent findings. A high index of suspicion is required to diagnose GLHS, particularly as alopecia tends to be hidden by surrounding scalp hair.