Dravet syndrome with parkinsonian symptoms and intact dopaminergic neurons: A case report.

Brain & Development
Masahiro KanataniRitsuko Hanajima

Abstract

Dravet syndrome (DS) is severe myoclonic epilepsy in infancy and associated with a heterozygous mutation of the gene for the sodium channel alpha 1 subunit (SCN1A). Recently, adult patients with DS have been reported to show parkinsonism, but no corresponding neuroimaging data are available. Here, we present neuroimaging data in 2 adult patients with DS showing parkinsonian symptoms. Case 1: A man who had intractable seizures from the age of 1 year and 2 months was diagnosed with DS at 7 with a mutation in the SCN1A gene. At 18, he had parkinsonian symptoms such as masked face and bradykinesia. At 20, he was admitted to our department. Dopamine transporter single-photon emission computed tomography (DAT SPECT) showed no decrease in striatal binding of 123I-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl) nortropane (123I-FP-CIT), and myocardial scintigraphy showed no decrease in cardiac uptake of 123I-metaiodobenzylguanidine (123I-MIBG). Levodopa showed no significant improvement in his symptoms. Case 2: A woman who had febrile seizures at 4 months of age and myoclonic seizures at 1 year and 5 months was diagnosed with DS at 31. She had myoclonus, resting tremor, hypertonia, antecollis, crouch gait, and bradykinesia. DAT SPEC...Continue Reading

References

May 19, 2001·American Journal of Human Genetics·L ClaesP De Jonghe
Nov 23, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Dominic JamoraEng-King Tan
Dec 19, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·G KägiE Tolosa
Apr 8, 2011·Epilepsia·Pierre GentonCharlotte Dravet
Mar 14, 2012·Archives of Neurology·Jill M RoddaH Kerr Graham
May 23, 2014·Neurology·Alfonso FasanoDanielle M Andrade

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