[P1-79] A case with holoprosencephaly and periventricular nodular heterotopia presenting various seizure types
[Introduction] Case reports of the coexistence of holoprosencephaly and periventricular nodular heterotopia are rare. We present a boy with holoprosencephaly and periventricular nodular heterotopia presenting multiple seizure types. [Case] He was born at 38 weeks of gestational age with the head circumstance of 42.0cm (+6.2SD). Ventriculo-peritoneal shunt was inserted on day 1. He had a partial seizure on day 8, and phenobarbital was administrated. His cranial MRI showed partial fusion of frontal lobe, fusion of thalamus, absence of septum pellucidum, dorsal cyst connecting to lateral ventricles and periventricular nodular heterotopia. He developed a partial seizure status epilepticus at 6 month old and had subsequent partial seizures yearly. Myoclonic seizures occurred at 13 months old. He had brief tonic seizures at 2 years old. He developed epileptic spasms at 3 years old. Valproate sodium, clobazam and topiramate showed no effect and adverse reactions of sleepiness. He has cerebral palsy and severe intellectual disability. [Conclusions] His MRI was considered as lobar type holoprosencephaly and atypical for having massive dorsal cyst. It is suggested that there might be common cause in the formation of holoprosencephaly and periventricular nodular heterotopia. Although multiple seizure types such as partial seizures, myoclonic seizures , tonic seizures and spasms were observed in this patient, further investigation is needed to elucidate the characteristics of seizures in cases with holoprosencephaly and periventricular nodular heterotopia.