Paroxysmal neurological phenomena in patients with familial amyloidotic polyneuropathy - Is there a need to broaden the classification?

Abstract

In patients with familial amyloid polyneuropathy there is accumulation of transtirretin (TTR) in heart and nerve, but in the post- hepatic transplantation era, the TTR produced by the choroid plexus plays an increasingly important in the etiology of the symptoms of this patients. They ere described has presenting short transitory neurological events, including migraine, seizures like episodes, TIAs and “amyloid spells”. According to the one of the largest series most of them seem to occur on average 14.6 years after disease onset and have usually minuts to hours of duration. A 42 years-old male patient diagnosed with PAF, submitted to liver transplantation presented with a motor aphasia and right hemiparesis. Brain CT was normal. In the day after developed a generalized tonic clonic seizure without recovery of the previous level of consciousness. EEG revealed continuous focal epiletiform activity. The diagnosis of status epilepticus was made and patient started on antiepileptic drug (AED) and 2 days after was seizure free and latter on discharged asymptomatic on AEDs.Transitory neurologic events are being increasing described in PAF patients, and some of these episodes don´t have a clear etiology althought TTR deposits seems do be the main precipitant factor; in some cases there is EEG dysfunction and in others epiletiform activity. In this case, there where clinic an electrographic criterium for status epileticus, which is why one more possible diagnosis to add patients with FAP and paroxysmal neurological changes, and from the authors' knowledge a rare diagnosis of these patients.