[P1-73] Alternating Hemiplegia of Childhood Presenting with Intractable Infantile Seizures
[Introduction]
Alternating hemiplegia of childhood (AHC) is an uncommon neurologic disorder. Hemiplegic attacks are the remarkable symptom. The common symptoms and signs also include dystonic, tonic, tonic-clonic, or ocular abnormal movements. Here we reported a case of AHC who presented with intractable seizures before hemiplegic attacks.
[Methodology]
The male patient exhibited clonic movement of trunk at age of 11 days. Seizures developed since age of 3 months. The seizure pattern was characterized by preictal crying, eye deviation to nasal side, followed by generalized tonic seizures. At age of 7 months, seizures became worsening with the features of head and eyes deviation to right or left side, eyeball rolling and nystagmus, accompanying with clonic seizures over ipsilateral upper limb. The seizure frequency was 2 to 5 times in a cluster and 5 to 6 clusters per day. The seizures persisted despite multiple anti-epileptic drugs trials, including Phenobarbital, Depakine, Levetiracetam, Clobazam, Oxcarbazepine, and Topiramate, as well as ketogenic diet. Since age of 1 year, he presented with alternating right or left limbs weakness, with or without clonic movement over right limbs and/or eyeball rolling up or deviation. AHC was suspected and genetic test was arranged.
[Results]
ATP1A3 gene analysis showed c.2401G>A (Asp.801 Asn) mutation. The diagnosis of AHC was made. Oxcarbazepine and Flunarizine were prescribed. No seizure occurred, but alternating hemiplegic attacks were still found.
[Conclusions]
The symptoms of AHC vary. AHC should be included as one of differential diagnoses in patients with focal seizures in infantile stage.
Alternating hemiplegia of childhood (AHC) is an uncommon neurologic disorder. Hemiplegic attacks are the remarkable symptom. The common symptoms and signs also include dystonic, tonic, tonic-clonic, or ocular abnormal movements. Here we reported a case of AHC who presented with intractable seizures before hemiplegic attacks.
[Methodology]
The male patient exhibited clonic movement of trunk at age of 11 days. Seizures developed since age of 3 months. The seizure pattern was characterized by preictal crying, eye deviation to nasal side, followed by generalized tonic seizures. At age of 7 months, seizures became worsening with the features of head and eyes deviation to right or left side, eyeball rolling and nystagmus, accompanying with clonic seizures over ipsilateral upper limb. The seizure frequency was 2 to 5 times in a cluster and 5 to 6 clusters per day. The seizures persisted despite multiple anti-epileptic drugs trials, including Phenobarbital, Depakine, Levetiracetam, Clobazam, Oxcarbazepine, and Topiramate, as well as ketogenic diet. Since age of 1 year, he presented with alternating right or left limbs weakness, with or without clonic movement over right limbs and/or eyeball rolling up or deviation. AHC was suspected and genetic test was arranged.
[Results]
ATP1A3 gene analysis showed c.2401G>A (Asp.801 Asn) mutation. The diagnosis of AHC was made. Oxcarbazepine and Flunarizine were prescribed. No seizure occurred, but alternating hemiplegic attacks were still found.
[Conclusions]
The symptoms of AHC vary. AHC should be included as one of differential diagnoses in patients with focal seizures in infantile stage.