3M syndrome is a rare disorder that involves the gene cullin-7 (CUL7). CUL7 modulates odour detection, conditions the olfactory response (OR) and plays a role in the development of the olfactory system. Despite this involvement, there are no direct studies on olfactory functional effects in 3M syndrome. The purpose of the present work was to analyse the cortical OR through chemosensory event-related potentials (CSERPs) and power spectra calculated by electroencephalogram (EEG) signals recorded in 3M infants: two twins (3M-N) and an additional subject (3M-O). The results suggest that olfactory processing is diversified. Comparison of N1 and Late Positive Component (LPC) indicated substantial differences in 3M syndrome that may be a consequence of a modified olfactory processing pattern. Moreover, the presence of delta rhythms in 3M-O and 3M-N clearly indicates their involvement with OR, since the delta rhythm is closely connected to chemosensory perception, in particular to olfactory perception.
Keywords: 3M syndrome; CSERP; EEG; OERP; olfactory system; rare disease; spectra power.