Hemimegalencephaly is rare and often causes catastrophic, drug-resistant epilepsy involving most of the affected hemisphere.
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Persistent seizures despite two appropriately dosed and tolerated medications, or seizures with an abnormal MRI finding, warrant prompt evaluation at a specialized pediatric epilepsy center.
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Intractable epilepsy is an independent risk factor for developmental delay and sudden unexpected death in epilepsy, supporting early imaging and referral.
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Hemispherectomy remains the gold standard treatment for HME-associated epilepsy, and surgery may be considered in infancy at experienced centers.
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At Phoenix Children’s, fewer than 15% of hemispherectomy patients require a shunt for postoperative hydrocephalus.
This peer-reviewed case series examines LYRM7-associated mitochondrial complex III (CIII) deficiency, a rare and typically neurodegenerative mitochondrial disorder, expanding its known phenotypic spectrum through two newly described cases and a literature review.