ELECTROPHYSIOLOGICAL AND TC-99M-HMPAO-SPECT STUDIES IN MENKES DISEASE

A diagnosis of Menkes kinky hair disease was made in two brothers who had typical clinical symptoms and laboratory findings. The older one, 11 months old at the time of diagnosis, showed an EEG pattern of low a mplitude and slow waves. Visual evoked potentials (VEPs) were absent, brainstem auditory evoked potentials (BAEPs) were abnormal. Regional c erebral blood flow (rCBF) studied by hexamethylpropyleneamine oxime si ngle photon emission computed tomography (Tc-99m-HMPAO-SPECT) revealed reduced blood flow in both frontal and the right temporal regions. Th e younger boy, followed from birth, started seizures at the age of 3 m onths and had a hypsarrhythmia-like EEG. BAEPs were abnormal with prol ongation of the latencies at the age of 12 months, while VEPs were nea r normal at 6 months, but disappeared by the age of 18 months. Tc-99m- HMPAO-SPECT revealed an unexpected left parietal hyperperfusion.