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Postmortem Menkes diagnosis from carrier testing of female relatives
T Tønnesen1, M Silengo, A M Gerdes
1John F. Kennedy Institute, Glostrup, Denmark.
Abstract:
A boy who died at 6 months of age was noted to have sparse, stubby and light hair, pili torti were observed microscopically, and his skin was dry and redundant. As a suspicion of Menkes disease was first raised after his death, serum copper and ceruloplasmin in serum were not measured. Unfortunately, no fibroblasts were available - only fixed and paraffin-embedded samples of brain, spleen and liver. The copper contents of the brain and the liver were lower than in an age-matched control. Fibroblast cultures from the mother, the maternal grandmother, and a maternal aunt of the index patient were analysed for 64Cu-uptake. All these females showed the uptake values expected for Menkes carriers, thus supporting the clinical suspicion of Menkes disease in the index patient. From the above-mentioned results it was highly likely that the index patient had suffered from Menkes disease. Adequate genetic counseling could thus be offered to the family, and in the next pregnancy a first trimester prenatal diagnosis was performed.
Insights
Menkes disease, a rare genetic disorder, was diagnosed post-mortem in an infant based on hair and skin abnormalities. Family studies confirmed carrier status, enabling prenatal diagnosis for future pregnancies.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Pathology
Background:
- Menkes disease is a rare X-linked recessive disorder affecting copper metabolism.
- It typically presents in infancy with characteristic hair abnormalities and neurological deficits.
Observation:
- An infant presented with sparse, stubby hair (pili torti) and dry, redundant skin.
- Post-mortem analysis revealed low copper levels in the brain and liver.
- Fibroblast cultures from female relatives showed abnormal copper uptake, indicative of carrier status.
Findings:
- Microscopic examination confirmed pili torti.
- Reduced copper content in affected organs supports Menkes disease diagnosis.
- Elevated 64Cu-uptake in maternal relatives confirmed carrier status.
Implications:
- This case highlights the diagnostic challenges of Menkes disease, especially post-mortem.
- Biochemical analysis in relatives is crucial for identifying carriers.
- Early identification and genetic counseling are vital for affected families, enabling informed reproductive choices and prenatal diagnosis.