Postmortem Menkes diagnosis from carrier testing of female relatives.
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.
Tønnesen
T
T
John F. Kennedy Institute, Glostrup, Denmark.
Silengo
M
M
Gerdes
A M
AM
Hansen
J C
JC
Reske-Nielsen
E
E
Franceschini
P
P
Horn
N
N
D001923:Brain Chemistry; D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D003300:Copper / Q000032:analysis; D005260:Female; D005347:Fibroblasts; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008099:Liver / Q000032:analysis; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics; D013154:Spleen / Q000032:analysis
D003300:Copper