Objective: To present 2 cases of children with genetic confirmative test of alternating hemiplejia of childhood.

Background: Alternating hemiplegia of childhood (AHC) is a dominant autosomal disease with mutations in ATP1A3 in Sodium/potassium-transporting ATPase subunit alpha-3, which are expressed in basal ganglia, hippocampus and cerebellar neurons. It is characterized by recurrent attacks of hemiplegia, abnormalities of ocular movement, movement disorders, epilepsy and progressive developmental delay. The hemiplegic attacks usually last a few minutes to several days and are associated with slowly progressive neurologic deficits over years. Treatment is divided into acute management of attacks and episode prophylaxis. The most commonly used medication is flunarizine, a calcium channel blocker. This has been reported to decrease frequency and severity of attacks, but not to stop them completely.

Methods: Transversal and descriptive study, with revision of medical records of 2 children receiving therapy at the Telethon Children Rehabilitation Centre, in Tuxtla Gutiérrez, Chiapas, México.

Results: It has been identified 2 children in 10 years, female 6yo and male 4yo, from mexican parents, without any family history and perinatal complications. They began at 5 and 3 months, respectively, both with epilepsy, girl with hemiplegia and choreoathetosis; boy with quadriplegia, with a first diagnosis of cerebral palsy and progressive bad evolution. Currently, the girl has this phenotype: microcephaly, intellectual disability, dystonic spell, left palpebral ptosis, choreoathetosis and dystonic postures, epilepsy and alternating events of hemiplegia, with mild responsiveness to flunarizine; boy with worse phenotype: microcephaly, blindness, abnormal ocular movements, severe spasticity, wrist and ankle clonus, refractory epilepsy. The molecular testing showed de novo mutations in exon 17, the girl, c.2401G>A è p.Asp801Asn; and the boy, c.2327A>T è p.Glu776Val.

Conclusions: Both patients with de novo mutations in exon 17 in heterorozygous state. Boy´s mutation has not been previously reported and was associated with a worse phenotype; while the girl has the most frequent mutation. Early and refractory epilepsy with movement disorders in children should alert to suspect ATP1A3 mutations.

Yes

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MDS Abstracts - https://www.mdsabstracts.org/abstract/alternating-hemiplegia-of-childhood-movement-disorders-and-epilepsy-due-to-mutuations-in-atp1a3/