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Cranial MRI and MR angiography in Menkes' syndrome
S Takahashi1, K Ishii, K Matsumoto
1Department of Radiology, Tohoku University School of Medicine, Sendai, Japan.
Neuroradiology
|January 1, 1993
Abstract:
We report two boys with Menkes' syndrome who underwent cranial MRI and MR angiography (MRA). In both, CT and MRI revealed progressive cerebral atrophy with a subdural haematoma or effusion. Delayed myelination or dysmyelination of the white matter was suggested. Tortuosity of the cervical and intracranial vessels was well demonstrated by MRA, obviating more invasive conventional angiography should it be thought necessary to demonstrate the characteristic systemic vascular changes of this syndrome.
Insights
Two boys with Menkes
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Menkes' syndrome is a rare genetic disorder affecting copper metabolism.
- It typically presents with neurological dysfunction and connective tissue abnormalities.
Observation:
- Two pediatric patients diagnosed with Menkes' syndrome were evaluated.
- Cranial computed tomography (CT) and magnetic resonance imaging (MRI) were performed.
- Magnetic resonance angiography (MRA) was utilized for vascular assessment.
Findings:
- Both patients exhibited progressive cerebral atrophy.
- Subdural hematoma or effusion was noted in both cases.
- Evidence suggested delayed myelination or dysmyelination of white matter.
- MRA effectively visualized tortuosity in cervical and intracranial vessels.
Implications:
- MRA serves as a valuable non-invasive tool for assessing vascular changes in Menkes' syndrome.
- Findings highlight the utility of advanced neuroimaging in diagnosing and monitoring Menkes' syndrome.
- This approach may reduce the need for more invasive angiographic procedures.