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Copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease
Abstract:
A 5-month-old boy showed severe delay in mental and motor development. His hair was normal. He died at 18 months from bronchopneumonia. Autopsy of the brain revealed meningo-cerebral angiodysplasia with tortuous vessels at the surface of the brain. This raised a suspicion of Menkes disease. A muscle-biopsy, the only remaining tissue from the patient, showed an increased copper-content, thus corroborating the suspicion of Menkes disease. Copper-uptake studies on 2 independent repeatedly tested fibroblast-cultures from the mother gave normal values in 4 and elevated levels in three tests. Such a pattern is often seen in carriers of Menkes disease. Furthermore one of the test values was above the critical limit. Just one value above this limit for females from families with Menkes disease will unequivocally classify a woman as a carrier irregardless of her genetic risk. This is to our knowledge the first time copper-measurements in tissues have been used to establish a post-mortem diagnosis of Menkes disease.
Insights
This study reports a post-mortem diagnosis of Menkes disease using copper measurements in tissues. Elevated copper confirmed the rare genetic disorder in an infant, aiding carrier identification in the mother.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Menkes disease is a rare X-linked genetic disorder affecting copper transport.
- Early diagnosis is crucial for management, but often challenging, especially post-mortem.
Observation:
- A 5-month-old infant presented with severe developmental delay and died at 18 months.
- Autopsy revealed meningo-cerebral angiodysplasia, raising suspicion of Menkes disease.
- Muscle biopsy showed increased copper content, confirming the diagnosis.
Findings:
- Post-mortem copper measurement in muscle tissue successfully diagnosed Menkes disease.
- Fibroblast cultures from the mother showed variable copper uptake, consistent with carrier status.
- One fibroblast test value exceeded the critical limit, unequivocally identifying the mother as a carrier.
Implications:
- This study demonstrates the utility of post-mortem tissue copper analysis for diagnosing Menkes disease.
- It highlights the importance of comprehensive testing for carrier identification in at-risk families.
- This diagnostic approach can aid in understanding the pathophysiology and genetic counseling for Menkes disease.