A case with developmental delay, resistant epilepsy and invuluntary movements diagnosed as SCN8A mutation
Emine Tekin, Betül Diler Durgut
Application of next-generation sequencing led to the identification of multiple new genes for epileptic encephalopathies, one of them is the mutations in SCN8A. A 4-month-old girl who was born from distantly related parents with no pre-post natal features, and neuromotor development appropriate for her age, applied with the complaint of frequent, repetitive focal clonic seizure. Phenytoin (PHT) and levetiracetam (LEV) loading was done after two doses of midazolam. Cranial imaging and electroencephalogram (EEG) was normal. PHT was stopped and discharged with LEV. She came with the same clonic seizures on the face and arms then, repeated EEG was also normal. Phenobarbital (PB) loaded, LEV discontinued. Seizures continued at home but after PHT loading no seizure was seen in the service. Metabolic screening found normal. Clonazepam was added due to intermittent seizures continued. EEG showed epileptic activity and slowing of the background, topiramate (TOP) was added to the treatment. Cerebrospinal fluid examination was normal, epileptic encephalopathy genetic panel reported as SCN8A heterozygous mutation c.3943G>A (p.Val1315Met). The patient's hypotonicity became evident, neuromotor development stalled. Physical therapy and rehabilitation program was started. Currently, 23 months old, hypotonic, holding her head but unable to sit without support equivalent the global development of six months age and has involuntary athetoid movements, no seizures with PHT, TOP and clonazepam treatment. Conclusion: Genetic analysis in terms of epileptic encephalopathy in the early period for patients with resistant epilepsy and growth retardation ensures clarification of the etiology and determination of the treatment plan.
Keywords: Developmental delay, encephalopathy, epilepsy, SCN8A
Emine Tekin
Turkey
Betül Diler Durgut
Turkey
Application of next-generation sequencing led to the identification of multiple new genes for epileptic encephalopathies, one of them is the mutations in SCN8A. A 4-month-old girl who was born from distantly related parents with no pre-post natal features, and neuromotor development appropriate for her age, applied with the complaint of frequent, repetitive focal clonic seizure. Phenytoin (PHT) and levetiracetam (LEV) loading was done after two doses of midazolam. Cranial imaging and electroencephalogram (EEG) was normal. PHT was stopped and discharged with LEV. She came with the same clonic seizures on the face and arms then, repeated EEG was also normal. Phenobarbital (PB) loaded, LEV discontinued. Seizures continued at home but after PHT loading no seizure was seen in the service. Metabolic screening found normal. Clonazepam was added due to intermittent seizures continued. EEG showed epileptic activity and slowing of the background, topiramate (TOP) was added to the treatment. Cerebrospinal fluid examination was normal, epileptic encephalopathy genetic panel reported as SCN8A heterozygous mutation c.3943G>A (p.Val1315Met). The patient's hypotonicity became evident, neuromotor development stalled. Physical therapy and rehabilitation program was started. Currently, 23 months old, hypotonic, holding her head but unable to sit without support equivalent the global development of six months age and has involuntary athetoid movements, no seizures with PHT, TOP and clonazepam treatment. Conclusion: Genetic analysis in terms of epileptic encephalopathy in the early period for patients with resistant epilepsy and growth retardation ensures clarification of the etiology and determination of the treatment plan.
Keywords: Developmental delay, encephalopathy, epilepsy, SCN8A
Emine Tekin
Turkey
Betül Diler Durgut
Turkey
Emine Tekin
Turkey
Turkey