Tønnesen T, Müller-Schauenburg G, Damsgaard E, Horn N
Clin Genet. 1986 Mar;29(3):258-61. doi: 10.1111/j.1399-0004.1986.tb00821.x.
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.
