An Inherited Cause of Stroke Mimic in a Toddler

Excerpt

To the Editor: Stroke mimic is one of the common causes of neurological deficits in young children. A 2-y-old-boy born to nonconsanguineous parents presented with recurrent weakness of left upper and lower limbs alternating with right upper and lower limbs, each event lasting for 48–72 h. The child was delivered at 36 wk of gestation with a birth weight of 2130 g. He had daily episodes of abnormal twisting posture of limbs and trunk with preserved awareness from first month of age. Mild developmental delay was observed. Left eye convergent squint and right hemiplegia were observed. Possibilities of alternating hemiplegia of child (AHC), mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS) and Moyamoya syndrome were considered. Brain magnetic resonance imaging with magnetic resonance angiography and electroencephalography were normal. Next generation sequencing revealed a likely pathogenic heterozygous missense variation in the exon 17 of ATP1A3 gene (c.2440G >A; p.Asp814Asn; ENST00000545399.6) confirming the diagnosis of alternating hemiplegia of childhood-2. …