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Target Concepts:
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Query: UMLS:C0022716 (
Menkes
)
1,057
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The authors describe a patient who presented from birth on a severe involvement of connective tissues with pathological fractures, lack of auricular cartilage, hyperlaxity of fingers and cutis laxa with deep folds, all suggestive of derangements of collagen and elastin. Hypothermia at 24 hours of age should have already indicated the possibility of
Menkes' syndrome
. From the 3rd month on, the patient presents a neurological deterioration and a myoclonic epilepsy which is resistant to treatment. Craniocerebral tomodensitometry revealed, with time, a cerebral atrophy and subdural hematomas.
Angiodysplasia
of a coronary artery was seen at cardiac echocardiography. Undetectable levels of serum copper and ceruloplasmin, and an increased uptake of copper by fibroblasts in vitro confirmed the diagnosis of
Menkes' syndrome
. Electron microscopy of a skin biopsy disclosed a desmosomal anomaly in the epidermis. Desmosomes stay apart suggesting an alteration of the interdesmosomal cement.
...
PMID:[Menkes disease. Report of a case with pronounced involvement of connective tissues and changes in epidermal desmosomes]. 270 74
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
.
...
PMID:Copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease. 369 34
