Idiopathic recurrent stupor: Munchausen by proxy and medical litigation.

211 Letter to the Editor—Plazzi et al The World Wide Web has become a default source for medical information, especially in cases of rare diseases or when the diagnosis is ambiguous. Recurrent hypersomnia and recurrent episodes of stupor are rare, and they are diagnoses of exclusion whose pathophysiologies are not well understood. Idiopathic recurring stupor (IRS) was identified as a new syndrome in 1992, in which spontaneous stupor lasting from hours to days occurred unpredictably and in the absence of readily discernible toxic, metabolic, or structural causes. Individuals otherwise appeared normal between episodes. Electroencephalography (EEG) during events exhibited activity patterns reminiscent of benzodiazepine (BZD) overdose, but traces of BZDs were found in plasma in only a proportion of cases.1,2 Stupor resolved and the EEG normalized for tens of minutes with administration of the BZD-antagonist flumazenil. The syndrome was attributed to elevated plasma and cerebrospinal fluid (CSF) levels of an endogenous BZD-like substance (viz., endozepine-4), which binds competitively for the BZD recognition site of the γ-aminobutyric acid (GABA) A receptor subtypes, and enhanced receptor function by positive allosteric modulation.1 The turning point in understanding this puzzling condition came when IRS was suspected in a group of close neighbors living near Lucca, Italy. Traditional gas-chromatographic-massspectrometric methods (GC-MS) did not detect BZDs or their metabolites. However, more sensitive high performance liquid chromatographic-mass-spectrometry (HPLC-ESI-MS) run in parallel with a radioreceptor-binding assay, detected lorazepam and its metabolites in patients’ plasma.3 Reanalysis by HPLCESI-MS of plasma collected and banked from our patients during episodes of IRS, and previously negative for BZDs by GC-MS, confirmed the presence of exogenous BZDs. Thus, the above evidence suggested that IRS, at least in these cases, was not a disease sui generis caused by endozepines, but rather, it was secondary to malicious administration of BZDs. In addition to cases of covert intoxications, a Munchausen syndrome by proxy4 has been documented in a case previously diagnosed as IRS. Spontaneous IRS is therefore an unproven and indeed questionable entity.3 Upon informing our previously diagnosed patients, one of them sued for damages, claiming that the diagnosis of IRS amounted to malpractice. Moreover, we were recently alerted by our National patients’ hypersomnia association (AIN-Associazione Italiana Narcolettici ed Ipersonni, www.narcolessia.it) to online LETTER TO THE EDITOR