08-05-2024 | Vasculitis | Correspondence
Recurrent Mononeuropathy, Stroke and Deafness in a Teenage Boy: Authors’ Reply
Authors:
Sayoni Roy Chowdhury, Bhavya Kansal, Anu Maheshwari, Suvasini Sharma
Published in:
Indian Journal of Pediatrics
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Excerpt
To the Editor: We thank Dr. Finsterer for his interest in our article and his comments [
1,
2]. We reported the diagnostic odyssey of a teenage boy with recurrent, acute-onset and multisite neurological symptoms. A multitude of investigations over 7 y remained elusive and subsequently, keeping a possibility of inherited vasculitis syndrome, whole exome sequencing identified a pathogenic homozygous missense variant (p.G47R) in
ADA2 gene [
2]. …
