Medicine (Baltimore). 2025 Oct 3;104(40):e44993. doi: 10.1097/MD.0000000000044993.

ABSTRACT

RATIONALE: Alternating hemiplegia of childhood (AHC) is a serious and rare neurological disease caused by mutations in the ATP1A3 gene. Patients mainly present with paroxysmal hemiplegia, dystonia, abnormal eye movement, dyspnea, and other autonomic neurological phenomena.

PATIENT CONCERNS: Here, we described a patient who initially presented with abnormal eye movements, followed by the subsequent development of seizures and alternating hemiplegia.

DIAGNOSES: Whole exome sequencing identified a heterozygous variant in the ATP1A3 gene: c.2443G > A (p.Glu815Lys). Thus, the patient was diagnosed with AHC.

INTERVENTIONS: Flunarizine combined with oxcarbazepine did not improve clinical symptoms.

OUTCOMES: Interestingly, typical AHC paroxysmal episodes gradually improved after starting the ketogenic diet, but the seizures did not resolve. Long-term follow-up shows a global improvement in neurological development.

LESSONS: Our case reinforces the role of the ketogenic diet as a novel therapeutic option for AHC. However, further specific confirmatory tests are necessary.

PMID:41054158 | DOI:10.1097/MD.0000000000044993

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