title: Clinical case report: multiple idiosyncratic adverse effects of antiepileptic drugs in trisomy 9p.
abstract: We report the case of a mentally retarded 30 y.o. patient with partial trisomy of chromosome 9, affected by epilepsy. Following treatment with antiepileptic drugs (AEDs), the patient developed several rare complications: after beginning therapy with phenytoin, the patient developed pseudolymphoma; after monotherapy with carbamazepine (CBZ), the patient thereafter developed myoclonic jerks of upper and lower limbs upon awakening; after one year of treatment with valproate (VPA) the patient developed clinical and immuno-haematological signs of SLE. Gradual withdrawal of AED, obtained clinical remission. The possibility that the chromosomal abnormality of the patient was responsible for the three rare complications observed during AED therapy is considered.
authors.affiliation: Clinica Neurologica, Università Tor Vergata, Roma, Italy.
authors.forename: G L
authors.initials: GL
authors.lastname: Gigli
authors.forename: A
authors.initials: A
authors.lastname: Scalise
authors.forename: G
authors.initials: G
authors.lastname: Silvestri
authors.forename: M
authors.initials: M
authors.lastname: Diomedi
authors.forename: F
authors.initials: F
authors.lastname: Placidi
authors.forename: M G
authors.initials: MG
authors.lastname: Pomponi
authors.forename: C
authors.initials: C
authors.lastname: Masala
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000009:adverse effects* / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D002220:Carbamazepine / Q000009:adverse effects* / Q000627:therapeutic use; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D003951:Diagnostic Errors; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D005013:Ethosuximide / Q000627:therapeutic use; D005260:Female; D006689:Hodgkin Disease / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000139:chemically induced* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009207:Myoclonus / Q000139:chemically induced* / Q000235:genetics; D010672:Phenytoin / Q000009:adverse effects* / Q000627:therapeutic use; D019310:Pseudolymphoma / Q000139:chemically induced* / Q000175:diagnosis / Q000235:genetics; D014314:Trisomy; D014635:Valproic Acid / Q000009:adverse effects* / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine; D005013:Ethosuximide; D014635:Valproic Acid; D010672:Phenytoin