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Abstract
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 amplitude and slow waves. Visual evoked
potentials (VEPs) were absent, brainstem autditory evoked potentials (BAEPs) were
abnormal. Regional cerebral blood flow (rCBF) studied by hexamethylpropyleneamine
oxime single photon emission computed tomography (99mTc-HMPAO-SPECT) revealed reduced blood flow in both frontal and the right temporal
regions. The younger boy, followed from birth, started seizures at the age of 3 months
and had a hypsarrhythmia-like EEG. BAEPs were abnormal with prolongation of the latencies
at the age of 12 months, while VEPs were near normal at 6 months, but disappeared
by the age of 18 months.99mTc-HMPAO-SPECT revealed an unexpected left parietal hyperperfusion.
Keywords
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Article info
Publication history
Accepted:
December 5,
1993
Received:
September 30,
1993
Identification
Copyright
© 1994 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.
