Hypothalamic hamartoma presenting with infantile spasms

Abstract

Background

Hypothalamic hamartomas (HH) generally present with gelastic seizures. It is very unusual for a pediatric patient with HH to present with infantile spasms (IS).

Case presentation

Here we present a 6-month-old boy diagnosed with IS whose brain magnetic resonance imaging (MRI) showed an 18 × 18 × 16 mm mass in the hypothalamus. His seizures did not respond to antiepileptic treatment with vigabatrin and valproic acid. He had disconnective surgery for HH. Immediately postoperatively, his seizures subsided and he has now been seizure-free for 2 years.

Conclusion

Although hypothalamic hamartomas generally present with gelastic seizures, they should also be considered in the differential diagnosis of infantile spasms.

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