Generalized dystonia and striatal calcifications with lipoid proteinosis.

Lipoid proteinosis (LP) is an autosomal recessive disease that typically presents with papular, verrucous, poxlike, or acneiform scars and lesions and hoarseness. LP was recently mapped to the 1q21 locus and shown to result from mutations in the extracellular matrix protein 1 gene (ECM1). Epilepsy, mental retardation, and hippocampal calcifications can occur. The authors describe a patient with generalized dystonia caused by striatal calcifications.

[Irritative midline and parasaggital foci: a clinical and electroencephalographic correlation]. / Focos irritativos parassagitais e de linha média: correlação clínico-eletrencefalográfica.

We report the clinical and electroencephalographic characteristics of thirteen patients with midline spikes (MS), parasaggital foci (PF), or both. Numerous clinical manifestations, including generalized tonic-clonic, complex partial and partial with secondary generalization could be demonstrated. The pattern of the epileptiform manifestation is unpredictable; however, we find generalized tonic-clonic seizure the commonest type (60%). Unfortunately, this data has no statistic value. Neurologic examination was normal in the majority of the patients. Regarding age, there is a marked predominance of children (84%) with MS and/or PF. Sleep constitutes the main activation method (73%) in the search for this kind of epileptiform activity. In conclusion, although the incidence of the MS/PF is quite low (0.4%), the high epileptogenic potential (70%) of them justifies a careful and adequate evaluation of these regions. Special attention must be paid to the normal sleep complexes, mainly in children, which sometimes can mimic true epileptiform activity.