Rivista di formazione e di aggiornamento professionale del pediatra e del medico di base, realizzata in collaborazione con l'Associazione Culturale Pediatri
M&B Pagine Elettroniche
Sindrome di Alpers-Huttenlocher, epilessia, uso del perampanel e medicina narrativa
1UOC di Pediatria e Neonatologia; 2Servizio di Neurofisiologia; 3Servizio di Farmacia Ospedaliera
Presidi Ospedalieri di Ravenna e Faenza, AUSL della Romagna
Indirizzo per corrispondenza: firstname.lastname@example.org
Alpers-Huttenlocher syndrome, epilepsy, use of perampanel and narrative medicine
Key words: Mitochondrial disease, Epilepsy, Liver disease, Psychomotorial regression
Alpers-Huttenlocher Syndrome (AHS) is a mitochondrial disease that should be suspected in the presence of three clinical cases: refractory epilepsy, liver disease and pro-gressive psychomotor regression. The onset occurs within the first year of age or in the early childhood. In some cases liver disease may precede the onset of seizures and psychomotor regression, while in more rare cases it may be absent or have a tardive onset. Unfortunately, the prognosis of the syndrome is not fa-vourable as it may develop into a difficult-to-treat en-cephalopathy whose features are spasticity, myoclonias, and focal epilepsy with possible status epilepcticus. The paper describes the case of a girl aged 3 years and ten months with genetic diagnosis of AHS, with no hepatic involvement, whose response to the control of the crises was good due to the introduction - in association with other drugs - of a new anti-epileptic drug, perampanel, a non-competitive antagonist, selective of AMPA-type iono-tropic glutamate receptors on the postsynaptic neurons. The crises decreased from 10-20 per day to 1-2 per month.
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