EEG-fMRI evaluation of patients with mesial temporal lobe sclerosis.

This preliminary study sought more information on blood oxygen level dependent (BOLD) activation, especially contralateral temporal/extratemporal spread, during continuous EEG-fMRI recordings in four patients with mesial temporal sclerosis (MTS). In two patients, EEG showed unilateral focal activity during the EEG-fMRI session concordant with the interictal focus previously identified with standard and video-poly EEG. In the other two patients EEG demonstrated a contralateral diffusion of the irritative focus. In the third patient (with the most drug-resistant form and also extratemporal clinical signs), there was an extratemporal diffusion over frontal regions, ipsilateral to the irritative focus. fMRI analysis confirmed a single activation in the mesial temporal region in two patients whose EEG showed unilateral focal activity, while it demonstrated a bilateral activation in the mesial temporal regions in the other two patients. In the third patient, fMRI demonstrated an activation in the supplementary motxor area. This study confirms the most significant activation with a high firing rate of the irritative focus, but also suggests the importance of using new techniques (such as EEG-fMRI to examine cerebral blood flow) to identify the controlateral limbic activation, and any other extratemporal activations, possible causes of drug resistance in MTS that may require a more precise pre-surgical evaluation with invasive techniques.

Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I.

A 2-year-old girl presented with hair that naturally stood out from her scalp. Her mother reported that the girl's hair had been impossible to comb since the first month of life. The child's eyebrows and lashes were normal. Scanning electron microscopy confirmed the presence of grooving on the hair shaft. Moreover, eight cafè-au-lait macules larger than 5 mm on the trunk and the limbs, and freckles in the axillary regions were observed. Neurologic examination showed some difficulties in motor organization and dyslalia. Magnetic resonance imaging illustrated multiple cerebral hamartomas. Molecular analysis disclosed microdeletion of gene 17q.11.2. Additional features included arched palate, a single palmar crease on one hand and low-set ears, which, together with bone abnormalities, have been previously associated with uncombable hair. This is the first report, to the best of our knowledge, of uncombable hair syndrome in a patient with neurofibromatosis type I.