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

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. 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. 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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Publication Details

Journal
Brain and Development Case Reports
Published
2024-09-12
DOI
https://doi.org/10.1016/j.bdcasr.2024.100036
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
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article

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

Eri Takeshita, Noriko Sumitomo, Yu Aihara, Toshiyuki Itai et al.
Brain and Development Case Reports
Congenital heart defects research
article

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

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

Abstract

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. 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. 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.

Brain and Development Case ReportsVol. 2(4)
Yokohama City University Hospital (JP), National Center of Neurology and Psychiatry (JP), Japanese Red Cross Medical Center (JP), Yokohama City University (JP)
Openalex Percentile: Top 86%
Congenital heart defects research
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