Case report highlights the effectiveness of IV diamox in treating apnea spells in Pitt Hopkins syndrome, indicating potential new treatment strategies.
To report a case of recurrent hyperventilation apnea spells in an adolescent female with TCF4+ Pitt Hopkins Syndrome, focusing on the evolving insights into its pathophysiology and the established and investigational treatment strategies.
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Toth et al. (2026) studied this question.
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