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Electrophysiological and 99mTc-HMPAO-SPECT studies in Menkes disease
1Department of Paediatrics, FMHS, UAE University, Al Ain, United Arab Emirates.
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 auditory 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.
Insights
Menkes kinky hair disease, a genetic disorder, affects brain development. Neuroimaging in two brothers revealed distinct patterns of reduced and increased cerebral blood flow, highlighting disease variability.
Area of Science:
- Neurology
- Medical Genetics
- Pediatric Neurology
Background:
- Menkes kinky hair disease (MKD) is a rare X-linked recessive disorder caused by mutations in the copper-transporting ATPase gene ATP7A.
- It is characterized by copper deficiency in various tissues, leading to neurological dysfunction, connective tissue abnormalities, and characteristic hair changes.
- Early diagnosis and management are crucial for improving outcomes, though the prognosis remains poor.
Observation:
- Two brothers diagnosed with Menkes kinky hair disease presented with typical clinical and laboratory findings.
- The older sibling (11 months) exhibited abnormal electroencephalogram (EEG), absent visual evoked potentials (VEPs), and abnormal brainstem auditory evoked potentials (BAEPs).
- Neuroimaging (99mTc-HMPAO-SPECT) in the older sibling showed reduced regional cerebral blood flow (rCBF) in frontal and right temporal regions.
Findings:
- The younger sibling, followed from birth, developed seizures and a hypsarrhythmia-like EEG.
- Abnormal BAEPs with prolonged latencies were noted at 12 months, and VEPs disappeared by 18 months.
- Unexpectedly, 99mTc-HMPAO-SPECT revealed left parietal hyperperfusion in the younger sibling, contrasting with the older brother's findings.
Implications:
- These findings highlight the variable neuroimaging presentation of Menkes kinky hair disease, particularly in regional cerebral blood flow.
- The contrasting patterns of hypoperfusion and hyperperfusion underscore the complex pathophysiology of MKD.
- Further research into the underlying mechanisms of altered cerebral blood flow in MKD is warranted for potential therapeutic targets.