Frequent breath-hold while awakening in SATB1 missense variant: A case report

Brain and Development Case Reports Pub Date : 2024-09-12 DOI:10.1016/j.bdcasr.2024.100036

Yu Aihara , Takashi Saito , Yuta Suenaga , Kaori Miyana , Toshiyuki Itai , Satoko Miyatake , Kaoru Yamamoto , Noriko Sumitomo , Shimpei Baba , Eri Takeshita , Yuko Shimizu-Motohashi , Yuji Takahashi , Hidehiro Mizusawa , Naomichi Matsumoto , Masayuki Sasaki

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Abstract

Introduction: SATB1 encodes a protein of the same name, and its genetic alteration causes SATB1 (special AT-rich sequence-binding protein 1) dysfunction, which clinically presents as developmental delay, intellectual disability, facial features, and epilepsy. However, detailed clinical information, especially regarding respiratory disorders, has not yet been fully described.

Case Presentation: We report the case of a 3-year-old Japanese girl with a de novo variant of SATB1, c.1588G > A:p.(Glu530Lys), who presented with a frequent breath-holding and hyperventilation while awake, in addition to typical phenotype. The long-term EEG showed no corresponding epileptiform changes, and breath-holding was considered non-epileptic rather than epilepsy, such as ictal central apneas. Valproic acid and acetazolamide alleviated breath-holding; however, it was intractable.

Conclusion: Respiratory disorders were thought to be non-epileptic, not reported in SATB1 disorders, and were resistant to treatment. The case was considered critical and may provide new research clues to this severe and not yet fully understood phenomenon.

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SATB1 错义变异体在觉醒时经常憋气：病例报告

简介SATB1编码一种同名蛋白质，其基因改变会导致SATB1（特殊富AT序列结合蛋白1）功能障碍，临床表现为发育迟缓、智力障碍、面部特征和癫痫。然而，详细的临床信息，尤其是有关呼吸系统疾病的信息，尚未得到充分描述：我们报告了一例患有 SATB1 基因新变异（c.1588G >A:p.(Glu530Lys)）的 3 岁日本女童的病例。长期脑电图检查未发现相应的癫痫样改变，憋气被认为是非癫痫性的，而不是癫痫，如发作性中枢性呼吸暂停。丙戊酸和乙酰唑胺缓解了憋气，但憋气仍很顽固：呼吸紊乱被认为是非癫痫性的，在 SATB1 疾病中未见报道，而且对治疗有抵抗力。该病例被认为是危重病例，可能会为这一尚未完全理解的严重现象提供新的研究线索。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Brain and Development Case Reports

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