Epileptic encephalopathy and brain iron accumulation due to WDR45 mutation

We present the case of a 10-year-old Chinese boy with profound developmental delay, spastic quadriparesis, and intractable epilepsy with tonic and atypical absence seizures. He was first noted to have a delay at 9 months. When evaluated at 17 months he had diffusely decreased tone, was only able to roll over but could not sit, hold his head, crawl or communicate. His seizures started at age 2 and consisted of atypical absence (hypomotor) and generalized tonic seizures occasionally preceded by myoclonic jerks.

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