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

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.