10.06.2024 | Correspondence
Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome
verfasst von:
Hyunjoo Lee, Ji-Hoon Na, Young-Mock Lee
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 10/2024
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Excerpt
To the Editor: Ataxia-telangiectasia (A-T) is a rare neurodegenerative disorder caused by mutations of the
ATM gene, characterized by neurological impairment (progressive cerebellar ataxia, peripheral neuropathy, oculomotor apraxia), telangiectasia, recurrent infections, greater susceptibility to cancer, and increased alpha-fetoprotein [
1,
2]. However, cyclic vomiting syndrome—an increasingly recognized disorder characterized by repeated episodes of severe nausea and vomiting with no apparent cause, requiring repeated admissions—has not been clearly characterized as a clinical manifestation of A-T [
3]. …