Practical management of repeated life-threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review

Abstract

Background: Alternating Hemiplegia of Childhood (AHC) is a severe channelopathy that manifests before 18 months of age, primarily caused by pathogenic variants in the ATP1A3 gene. It is characterized by recurrent and disabling episodes of plegia, dystonia, dysautonomia, along with chronic neurological features and cardiac arrhythmias. About 50% of AHC patients have epilepsy, and a subset of them may develop refractory or super-refractory status epilepticus. Currently, there are no specific available therapeutic guidelines, particularly for managing life-threatening paroxysmal and epileptic episodes in the Intensive Care Unit (ICU).

Case report: This report aims to illustrate a comprehensive treatment approach and clinical management of a young boy with AHC and multiple episodes of super-refractory status epilepticus throughout his lifetime. The patient was diagnosed with AHC at the age of 6 months, carrying the most severe ATP1A3 gene mutation-p.Glu815Lys. Epileptic seizures started at 24 months of age, and after a relatively stable clinical course, he experienced a first super-refractory status epilepticus at the age of 16. Subsequently, he presented two additional episodes of status epilepticus and faced progressive neurological deterioration until death at the age of 20.

Discussion: AHC management is a substantial challenge due to the coexistence of multiple paroxysmal events, epilepsy, chronic neurological impairments, and the possibility of cardiac abnormalities, including short QTc or cardiac rhythm complications. Tailored treatment and deep knowledge of this complex disease are imperative for effective management.

Keywords: AHC; epilepsy; intensive care; status epilepticus; treatment.

FIGURE 1

Timeline with medications used in the three admissions, respectively. (A) For the first admission, (B) for the second admission, and (C) for the third admission. The duration of each admission is reported in days. Type and dosage are described in the legend.

FIGURE 2

Brain MRI revealing supra‐ and infratentorial hypotrophy, hippocampal sclerosis (A–D), and peripheral hypoperfusion in the arterial spin labeling (ASL) sequence (E, F).