Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations

TY - JOUR

T1 - Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3

T2 - a case report and pathophysiological considerations

AU - Pavlidis, Elena

AU - Uldall, Peter

AU - Gøbel Madsen, Camilla

AU - Nikanorova, Marina

AU - Fabricius, Martin

AU - Høgenhaven, Hans

AU - Pisani, Francesco

AU - Møller, Rikke S

AU - Gardella, Elena

AU - Rubboli, Guido

PY - 2017/6

Y1 - 2017/6

N2 - We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit. MRI showed bilateral mesial temporal sclerosis and a left-sided ischaemic lesion. Interictal EEG showed bilateral abnormalities, whereas postictal EEG after status epilepticus showed overt slowing on the left side, suggesting a predominant involvement of ictal activity of the left hemisphere. We hypothesize that in our patient, the left hemisphere might have been more prominently affected by the pathogenetic abnormalities underlying alternating hemiplegia of childhood, rendering it more prone to early ischaemic lesions and recurrent unilateral status epilepticus. We speculate whether alternating hemiplegia of childhood shares some common pathophysiological mechanisms with familial hemiplegic migraine that may be associated with a pathogenic variant of ATP1A2.

AB - We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit. MRI showed bilateral mesial temporal sclerosis and a left-sided ischaemic lesion. Interictal EEG showed bilateral abnormalities, whereas postictal EEG after status epilepticus showed overt slowing on the left side, suggesting a predominant involvement of ictal activity of the left hemisphere. We hypothesize that in our patient, the left hemisphere might have been more prominently affected by the pathogenetic abnormalities underlying alternating hemiplegia of childhood, rendering it more prone to early ischaemic lesions and recurrent unilateral status epilepticus. We speculate whether alternating hemiplegia of childhood shares some common pathophysiological mechanisms with familial hemiplegic migraine that may be associated with a pathogenic variant of ATP1A2.

KW - Child, Preschool

KW - Epilepsy/genetics

KW - Hemiplegia/genetics

KW - Humans

KW - Male

KW - Sodium-Potassium-Exchanging ATPase/genetics

U2 - 10.1684/epd.2017.0913

DO - 10.1684/epd.2017.0913

M3 - Journal article

C2 - 28637637

SN - 1294-9361

VL - 19

SP - 226

EP - 230

JO - Epileptic Disorders

JF - Epileptic Disorders

IS - 2

ER -