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Radiological findings in a case of Menkes' disease
F Pinto1, A Calderazzi, R Canapicchi
1Department of Radiology, University of Pisa, Ospedale S. Chiara, Italy.
Abstract:
Menkes' disease, a neurodegenerative progressive X-linked disorder, was diagnosed in a 4-month-old child. The diagnosis was made on the combination of clinical features with laboratory and radiological findings. The pathogenesis of the skeletal findings in Menkes' disease is as yet unclear. Because of the severity of the prognosis and in order to plan treatment, the correct diagnosis has to be reached quickly. Typical manifestations of the syndrome are likely to develop after 3 months of age, with a pleiotropic appearance. In the present case, on the basis of the clinical investigation the patient underwent retrograde cystourethrography, roentgenographic examination of the skeleton, and magnetic resonance imaging of the brain. On analysis of the magnetic resonance imaging, we detected one-sided involvement of both subcortical and cortical parenchyma resembling a unilateral ischemic lesion such as, to our knowledge, has not yet been reported.
Insights
Menkes
Area of Science:
- Neurogenetics
- Pediatric Neurology
Background:
- Menkes' disease is a severe, X-linked neurodegenerative disorder affecting copper metabolism.
- Early diagnosis is critical for prognosis and treatment planning in affected infants.
- Skeletal manifestations in Menkes' disease have complex and not fully understood pathogenesis.
Observation:
- A 4-month-old infant presented with clinical features suggestive of Menkes' disease.
- Diagnostic workup included skeletal radiography, cystourethrography, and brain MRI.
- Brain MRI revealed unilateral parenchymal involvement, mimicking an ischemic lesion.
Findings:
- The diagnosis of Menkes' disease was confirmed through integrated clinical, laboratory, and radiological data.
- Unilateral brain lesions on MRI are an atypical finding in this case.
- This presentation highlights the diverse phenotypic variability of Menkes' disease.
Implications:
- Recognizing unusual radiological findings like unilateral ischemic lesions is crucial for diagnosing Menkes' disease.
- Further research into the pathogenesis of neuroimaging findings in Menkes' disease is warranted.
- Prompt diagnosis facilitates timely intervention and management strategies for affected children.