Expanding the Neurological Phenotype of ZTTK Syndrome: A Case of Recurrent Acute Confusional Migraine.
Eugenio Zapata-Aldana, Joan Petanas Argemi, María José Vázquez Ares et al.
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Case in brief
A child with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a multisystem disorder associated with pathogenic SON variants, experienced recurrent episodes of acute confusional migraine (ACM). ACM in children is characterized by transient confusion and agitation; EEG findings may be nonspecific, while bloodwork and neuroimaging are typically normal. The report identifies ACM in this child as an additional neurological feature of ZTTK syndrome. The authors propose a possible link between SON haploinsufficiency and cortical excitability, but note that the association and its mechanism require further study.
What made this case unusual
The report describes ACM in a child with ZTTK syndrome, an association not previously reported in the literature according to the authors. Communication impairments in ZTTK may also make such episodes difficult to recognize or distinguish from epileptic events.
Diagnostic / clinical pearl
In a child with ZTTK syndrome, transient confusion and agitation may represent ACM rather than an epileptic event; the proposed association remains unvalidated.