title: Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease.
abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease, OMIM 204500) is a rare autosomal-recessive lysosomal storage disorder. It is one of the most common neurodegenerative disorders in childhood. Symptoms include epilepsy, rapid motor and language regression, dementia, visual loss, and a complex movement disorder in later stages of the disease. We report on two children with genetically confirmed late-infantile CLN2 disease who developed a severe exacerbation of their complex movement disorder leading to hyperthermia, hyper-CK-emia and decreased level of consciousness over several weeks despite different therapeutic approaches. Both patients were on long-term antiepileptic treatment with valproate and only after the withdrawal of valproate, the movement disorder disappeared and level of consciousness improved. These observations emphasize that valproate has to be considered as a possible risk factor in patients in later stages of late-infantile CLN2 disease who develop a rapidly progressive complex movement disorder.
authors.affiliation: Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Jessika
authors.initials: J
authors.lastname: Johannsen
authors.affiliation: Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Miriam
authors.initials: M
authors.lastname: Nickel
authors.affiliation: Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Angela
authors.initials: A
authors.lastname: Schulz
authors.affiliation: Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Jonas
authors.initials: J
authors.lastname: Denecke
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D003244:Consciousness Disorders / Q000209:etiology; D003402:Creatine Kinase / Q000097:blood; D000069340:Deprescriptions; D018450:Disease Progression; D004827:Epilepsy / Q000188:drug therapy* / Q000209:etiology; D005334:Fever / Q000209:etiology; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000209:etiology*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications*; D012307:Risk Factors; D000091346:Tripeptidyl-Peptidase 1; D014635:Valproic Acid / Q000627:therapeutic use*
chemical_list: D000927:Anticonvulsants; D000091346:Tripeptidyl-Peptidase 1; D014635:Valproic Acid; D003402:Creatine Kinase; C000717267:TPP1 protein, human