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.

Gigli, G., Scalise, A., Silvestri, G., Diomedi, M., Placidi, F., Pomponi, M., et al. (1996). Clinical case report: multiple idiosyncratic adverse effects of antiepileptic drugs in trisomy 9p. INTERNATIONAL JOURNAL OF NEUROSCIENCE, 87(3-4), 181-189.

Clinical case report: multiple idiosyncratic adverse effects of antiepileptic drugs in trisomy 9p

DIOMEDI, MARINA;PLACIDI, FABIO;
1996-11-01

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.
nov-1996
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/26 - NEUROLOGIA
English
Con Impact Factor ISI
Magnetic Resonance Imaging; Myoclonus; Humans; Electroencephalography; Chromosome Disorders; Brain; Trisomy; Chromosomes, Human, Pair 9; Intellectual Disability; Diagnostic Errors; Valproic Acid; Pseudolymphoma; Phenytoin; Lupus Erythematosus, Systemic; Carbamazepine; Adult; Chromosome Aberrations; Ethosuximide; Epilepsy, Generalized; Hodgkin Disease; Anticonvulsants; Female
Gigli, G., Scalise, A., Silvestri, G., Diomedi, M., Placidi, F., Pomponi, M., et al. (1996). Clinical case report: multiple idiosyncratic adverse effects of antiepileptic drugs in trisomy 9p. INTERNATIONAL JOURNAL OF NEUROSCIENCE, 87(3-4), 181-189.
Gigli, G; Scalise, A; Silvestri, G; Diomedi, M; Placidi, F; Pomponi, M; Masala, C
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/62449
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