ジョウベルト症候群における代謝機能障害に関連するCSPP1変種:症例報告

Liany F Acosta-Paguada¹, Milca S Velásquez-Hernandez¹, Paola Sophia Bonilla Medina^2,3

¹Faculty of Medicine, Catholic University of Honduras, San Pedro Sula, Honduras.

Journal of medical case reports

|September 2, 2025

まとめ

珍しいシリオパシーであるジョーベルト症候群は,CSPP1の変種で代謝機能障害を伴う可能性があります. CSPP1関連のジョーバート症候群の患者のインスリン抵抗性や肝疾患が顕著に表れています

科学分野:

遺伝学
神経学
内分泌学

背景:

ジョウベルト症候群は,小脳低形成と歯の歯のサインを特徴とするシリオパシーです.
CSPP1の病原性変異は,約3%のジュベルト症候群の症例を引き起こします.
CSPP1に関連するジョーベルト症候群では,以前は代謝機能障害が記述されていなかった.

研究の目的:

CSPP1に関連したジョーバート症候群の新しいプレゼンテーションを記述します.
CSPP1がメタボリック・ホメオスタシスに果たす役割を調査する.

主な方法:

CSPP1に関連したジョーベルト症候群の 16歳の女性の症例報告
神経画像と遺伝子検査を含む臨床評価
代謝パラメータと肝臓の健康状態の評価

主要な成果:

患者にはインスリン抵抗性,早期発症糖尿病,脂質不全,代謝機能障害に関連した脂肪酸性肝疾患がありました.
神経イメージングで脳小虫の低増殖が確認された
遺伝子検査により,病原性ヘテロジゴスCSPP1変種 (c.3052C>T,p.Gln1018) が確認された.
患者はジュベルト症候群の典型的な神経学的症状を欠いていた.

結論:

この症例は,CSPP1に関連するジョーベルト症候群の既知の表型スペクトルを拡張します.
CSPP1はメタボリック・ホメオスタシスに作用する可能性がある.
代謝機能障害におけるCSPP1の役割を明らかにするためにさらなる研究が必要である.

キーワード:

CSPP1 についてケースレポートチリオパシー糖尿病ジョーバート症候群プライマリ・シリウム

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