Prader-Willi综合征(Prader-Willi syndrome, PWS)又称为肌张力低下-智能障碍-性腺发育滞后-肥胖综合征,早期诊断和合理干预对改善患儿生活质量、预防严重并发症及延长寿命至关重要。临床表现复杂多样,婴幼儿期不明显,容易漏诊。本研究患儿因“发热及皮疹”收入院,明确诊断川崎病,但疾病进展过程中出现明显腹胀,根据腹胀和食欲亢进这一线索,完善检查及基因分析,最终明确诊断为Prader-Willi综合征。Prader-Willi综合征起病隐匿,容易漏诊。儿科医生应该重视其临床表现,早诊断、早治疗,以改善预后。
关键词
Prader-Willi综合征 /
川崎病 /
腹胀
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参考文献
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