8 歳 の 女の子 の 中 で ヌーナン 症候群 と レット 症候群
Nikita Shetty1, William D Brown1,2, Lauren Massingham1,3
1Department of Pediatrics, Rhode Island Hospital/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.
JCEM case reports
|September 2, 2025
まとめ
このケーススタディは,子供におけるヌーナン症候群 (NS) とレット症候群 (RTT) の珍しい共存を強調しています. エクソームシーケンシングにより,非典型的なNSの特徴を持つ患者のRTTの診断が可能になりました.
科学分野:
- 遺伝学
- 小児科
- 神経科学
背景:
- ヌーナン症候群 (Noonan syndrome,NS) は,低度の膠原腫を含む癌のリスクの増加に関連する遺伝疾患である.
- レット症候群 (RTT) は,典型的には女性に影響する進行性神経発達障害である.
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