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DOI: 10.1055/s-0041-1739617
Gait Disturbance in 10-Year-Old Boy with Dravet Dyndrome, Stiripentol-associated Myopathy
Introduction: Dravet syndrome is an encephalopathy with pharmacoresistant epilepsy. The clinical signs include ataxia and crouch gait. Stiripentol is a GABAergic compound licensed for the treatment of Dravet syndrome together with valproic acid (VPA) and clobazam (CLB).
Case Report:
F.W.: An 11-year-old boy; 1st febrile seizure at 0.10 years, 1st afebrile seizure at 1.7 years. Therapy with sulthiame, VPA. Worsening of the seizure situation with lamotrigine/ oxcarbazepine. Detection of a pathogenic variant in the SCN1A gene at 6 years.
Therapy with VPA, CLB, and STP led to better seizure control.
After 2.5 years, he was exhausted during the day. A month later F.W. could barely climb stairs. VPA was reduced with increased liver enzymes and stopped without any improvement. Two months later, there was muscle weakness and ataxia.
After 8 months, creatine kinase (CK) was 1,605 U/L. There was a slight increase in CK at the beginning of the symptoms. The MRI of the thigh muscles showed muscle atrophy.
A muscle biopsy showed increased diffuse muscle fiber necrosis compatible with a drug-toxic event.
Stop of STP resulted in normalization of CK and abnormal enzymes. Clinically complete resolution was achieved after one year.
Discussion: In our patient, a necrotizing myopathy associated with STP therapy was observed, with a restitutio ad integrum after discontinuation STP.
Dravet syndrome often associated with the underlying disease led to a delayed diagnosis of the muscle weakness. In the case of elevated liver enzymes, CK should always be determined to detect a muscular damage.
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No conflict of interest has been declared by the author(s).
Publication History
Article published online:
28 October 2021
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