[Pathophysiology of carbohydrate-deficient glycoprotein syndrome--neuroradiological and neurophysiological study]

Neuroradiological and neurophysiological studies were done in two male siblings with carbohydrate-deficient glycoprotein syndrome (CDGS) (case 1 and 2) and one male second cousin presumed with CDGS (case 3). Case 1 and 2 had abnormality of epileptic discharge in EEG. Case 1 had MCV in the lowest normal range, giant SEP was observed in SSEP in case 1 and low voltage of P 14 in case 3. Case 1 had low voltage of wave V in ABR and case 3 had low voltage of wave V on one side and no response on the other side. The all cases showed the normal pattern for VEP and MEP. All showed cerebellar hypoplasia and various degree of pontine hypoplasia on MRI. SPECT showed hypoperfusion in cerebellum, brainstem and left centroparietal region in case 1. In CDGS we found the hypoplasia of cerebellum and pons in common, but it was suggested that CDGS might have the heterogeneity of pathophysiology on the basis of various neurological abnormalities.