Fluctuating Hyperkinesia and Epileptic Seizures in a Child: Syndrome Spectrum or Two Entities?: An Unsolved Case of an Encephalopathy

Background: A 7-year-old Afghan boy born to consanguineous parents presented with acute generalized choreatic/myoclonic movements shortly after admission for viral encephalitis. He had a 2-year history of mild hyperkinetic upper limb movement disorder (MD). Family history is negative. Over the past year, he developed tonic-clonic seizures, and the MD progressed.

Methods: A comprehensive diagnostic workup was performed, including repeated brain and spinal magnetic resonance imaging (MRI), cerebrospinal fluid analyses (CSF), neurotransmitter and metabolic screening, infectious and toxicological testing, nerve conduction studies (NCS), electroencephalogram (EEG), and genetic testing.

Results: Initial CSF confirmed enteroviral encephalitis. Intravenous immunoglobulin (IVIG) led to mild improvement, suggesting viral or autoimmune etiology. Mild antistreptolysin O-elevation prompted antibiotic therapy, which was later discontinued due to lack of effect. Repeated MRI showed only an arachnoid cyst; no other pathology was found. Routine labs, metabolic tests, tumor markers, and NCS were unremarkable. Repeated CSF analysis showed no abnormalities except for slightly reduced cerebral serotonin and folate levels, but supplementation was ineffective. EEG revealed nearly continuous bilaterally independent centro-parietal sharp-waves with spike-wave activation in sleep (EE-SWAS). Seizures persisted despite treatment with clonazepam, levetiracetam/brivaracetam, ethosuximide, and topiramate. Repeated IVIG led to modest improvement; corticosteroids worsened symptoms. Plasma exchange and trials with biotin/thiamine were ineffective. Genome sequencing was inconclusive.

Conclusion: Despite extensive diagnostic and therapeutic efforts, it remains unclear whether the symptoms resemble a genetic epilepsy syndrome with MD or dual pathologies. According to recent literature, the phenotypic spectrum of a hyperkinetic MD and pharmacoresistant epilepsy highly suggests a rare neurogenetic disorder.

 

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Artikel online veröffentlicht:
26. September 2025