17q12 Deletion Syndrome with Convulsions and Family History of Increased intracranial pressure syndrome

We present a case of a 5.5-year-old boy diagnosed with 17q12 deletion syndrome, a rare genetic disorder that manifests in a variety of clinical symptoms, including neurological and renal abnormalities (1). We aim to underscore the importance of recognizing early clinical signs and implementing appropriate genetic testing and management. The child experienced his first convulsion at 8 months, followed by additional seizures at 11 and 14 months, leading to the initiation of Keppra (levetiracetam) at a dosage of 2x1 daily. Despite these early seizures, his developmental milestones have been normal, and no developmental delay has been observed. At the age of 4, bilateral renal cysts were detected through routine imaging, a hallmark feature of 17q12 deletion syndrome due to the involvement of the HNF1B gene. The clinical course includes an abnormal EEG conducted 1.5 years ago, revealing patterns suggestive of underlying neurological issues. This, coupled with the patient's history of seizures, prompted further investigations. Ultimately, the 17q12 deletion was confirmed through genetic testing, specifically via chromosomal microarray analysis. It was noted that the mother has been on acetazolamide therapy since the age of 18 due to increased intracranial pressure syndrome and has intermittently received treatment for migraines associated with severe headaches. The parents and siblings were also evaluated through genetic testing, given the possibility of autosomal dominant inheritance, to identify asymptomatic carriers or those at risk for complications (test results are awaiting).