[P3-45] A Girl with Infantile Epileptic Encephalopathy in whom Weekly Adrenocorticotropic Hormone Therapy was Successful
Weekly adrenocorticotropic hormone (ACTH) therapy is reportedly effective against intractable epilepsy (Inui, 2014). We report a case of infantile epileptic encephalopathy successfully treated with ACTH therapy.
The patient was a 4-year-old girl. At 1 month old, she presented with frequent systemic tonic seizures. Magnetic resonance imaging and electroencephalography (EEG) revealed no clear abnormalities. Seizures promptly stopped with continuous infusion of midazolam and were reduced with phenobarbital + clobazam. At 3 months old, she developed spasmodic seizures. EEG revealed frequent spikes in T5, but levetiracetam achieved complete disappearance of seizures. At 5 months old, she developed West syndrome, which responded completely to ACTH therapy and seizures again disappeared. The girl subsequently experienced repeated exacerbations and remissions of seizures and presented with clear developmental regression during seizure exacerbations. Various antiepileptic drugs, ketogenic diets, and other therapies were only temporarily effective. At 34 months old, she started weekly ACTH therapy, which rapidly achieved complete seizure control and subsequent dramatic developmental improvements. Mild heart failure and arrhythmia occurred at the beginning of ACTH therapy, so the dose was lowered. Causative gene analysis revealed STXBP1 mutation.
In this case, exacerbation of seizures was directly linked to developmental regression, making seizure control the highest priority. Fortunately, weekly ACTH therapy proved successful. Intractable epilepsy often develops in patients with STXBP1 mutations (Yamamoto, 2015), but ACTH therapy can represent a viable therapeutic option. Future issues to investigate include concerns over side effects and therapy duration.
Weekly ACTH therapy deserves consideration as a therapeutic option for infantile epileptic encephalopathy.
The patient was a 4-year-old girl. At 1 month old, she presented with frequent systemic tonic seizures. Magnetic resonance imaging and electroencephalography (EEG) revealed no clear abnormalities. Seizures promptly stopped with continuous infusion of midazolam and were reduced with phenobarbital + clobazam. At 3 months old, she developed spasmodic seizures. EEG revealed frequent spikes in T5, but levetiracetam achieved complete disappearance of seizures. At 5 months old, she developed West syndrome, which responded completely to ACTH therapy and seizures again disappeared. The girl subsequently experienced repeated exacerbations and remissions of seizures and presented with clear developmental regression during seizure exacerbations. Various antiepileptic drugs, ketogenic diets, and other therapies were only temporarily effective. At 34 months old, she started weekly ACTH therapy, which rapidly achieved complete seizure control and subsequent dramatic developmental improvements. Mild heart failure and arrhythmia occurred at the beginning of ACTH therapy, so the dose was lowered. Causative gene analysis revealed STXBP1 mutation.
In this case, exacerbation of seizures was directly linked to developmental regression, making seizure control the highest priority. Fortunately, weekly ACTH therapy proved successful. Intractable epilepsy often develops in patients with STXBP1 mutations (Yamamoto, 2015), but ACTH therapy can represent a viable therapeutic option. Future issues to investigate include concerns over side effects and therapy duration.
Weekly ACTH therapy deserves consideration as a therapeutic option for infantile epileptic encephalopathy.