Electrophysiological and 99mTc-HMPAO-SPECT studies in Menkes disease

L. Sztriha, Márta Janáky, József Kiss, Klára Buga

Research output: Contribution to journalArticle

12 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalBrain and Development
Volume16
Issue number3
DOIs
Publication statusPublished - 1994

Fingerprint

Menkes Kinky Hair Syndrome
Technetium Tc 99m Exametazime
Single-Photon Emission-Computed Tomography
Visual Evoked Potentials
Evoked Potentials
Brain Stem
Electroencephalography
Cerebrovascular Circulation
Infantile Spasms
Regional Blood Flow
Temporal Lobe
Siblings
Seizures
Parturition

Keywords

  • Cerebral blood flow
  • Copper deficiency
  • Evoked potential
  • Kinky hair disease
  • Menkes disease
  • SPECT

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Cite this

Electrophysiological and 99mTc-HMPAO-SPECT studies in Menkes disease. / Sztriha, L.; Janáky, Márta; Kiss, József; Buga, Klára.

In: Brain and Development, Vol. 16, No. 3, 1994, p. 224-228.

Research output: Contribution to journalArticle

Sztriha, L. ; Janáky, Márta ; Kiss, József ; Buga, Klára. / Electrophysiological and 99mTc-HMPAO-SPECT studies in Menkes disease. In: Brain and Development. 1994 ; Vol. 16, No. 3. pp. 224-228.
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