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Introduction: WDR45 mutations have recently been reported to cause Neurodegeneration with Brain Iron Accumulation (NBIA).  Such patients present with global developmental delay in early childhood followed byextrapyramidal symptoms in early adulthood.  Seizures may occur in childhood, and absence, atonic, febrile, and myoclonic seizures. Presentations as seizures in infancy, or as infantile spasms, however, have not been reported. Case Description: This patient first presented with a prolonged, focal-onset seizure at age 3 months. Phenobarbital was given then weaned off.  The patient re-presented within fantile spasms at age 11 months. EEG showed high voltage, slow background with multifocal and generalized spikes and polyspikes.  Zonisamide stopped the spasms, but they recurred a few months later together with tonic seizures. Neither clonazepam, nor levetiracetam, or rufinamide helped.  Spasms continued and consisted of flexion of the head and extension ofthe extremities with 7-10 clusters per day mostly upon awakening. Atage 4 years she has a developmental age of 9 months, no extrapyramidal signs, ten spasms per day, weekly tonic seizures, and hypsarrhythmia in sleep. Extensive neurometabolic workup and two MRIs are normal with no “eye ofthe tiger” sign.  Whole exome sequencing shows a heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45 which is not present in her parents. Conclusion: We report the first case of WDR45 mutation presenting with focal seizures and infantile spasms during the first year of life.  Testing for this mutation should be considered inpatients with infantile spasms of unclear etiology.

WDR45; seizure; infantile spasms; EEG; heterozygous mutation