Tareq Hanna, David Elyas, Joy Lerner
SETD5-related neurodevelopmental disorder is a rare genetic condition caused by a mutation in the SETD5 gene, which has previously been shown to cause intellectual disability (ID) along with dysmorphic facies, behavioral difficulties, congenital heart defects, and developmental delays. This report describes an eight-year-old patient with known SETD5 and inflammatory conditions who presented for evaluation of severe headaches consistent with migraines. This patient had associated photophobia and nausea, as well as pain around the eye that was severe enough to awaken him and was only relieved with rizatriptan. To our knowledge, migraine headaches have not previously been described in association with SETD5-related neurodevelopmental disorder. We hope that by sharing this patient's presentation and medical history, this report will broaden the clinical spectrum of SETD5 and its implications.