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Maladie de Menkes. Description d'un cas avec atteinte prononcee des tissus conjonctifs et alteration des desmosomes epidermiques

Gautier, E; Frenk, E; Uske, A; Queloz, J and Laurini, Ricardo LU (1989) In Helvetica Paediatrica Acta 43(4). p.333-344
Abstract
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... (More)
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. (Less)
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author
organization
alternative title
Menkes disease. Report of a case with pronounced involvement of connective tissues and changes in epidermal desmosomes
publishing date
type
Contribution to journal
publication status
published
subject
in
Helvetica Paediatrica Acta
volume
43
issue
4
pages
333 - 344
publisher
Schwabe
external identifiers
  • pmid:2708074
  • scopus:0024535974
ISSN
0018-022X
language
French
LU publication?
yes
id
ef89904b-140b-4115-83e1-689233b99858 (old id 1104916)
date added to LUP
2008-08-07 08:46:27
date last changed
2017-01-01 07:12:52
@article{ef89904b-140b-4115-83e1-689233b99858,
  abstract     = {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.},
  author       = {Gautier, E and Frenk, E and Uske, A and Queloz, J and Laurini, Ricardo},
  issn         = {0018-022X},
  language     = {fre},
  number       = {4},
  pages        = {333--344},
  publisher    = {Schwabe},
  series       = {Helvetica Paediatrica Acta},
  title        = {Maladie de Menkes. Description d'un cas avec atteinte prononcee des tissus conjonctifs et alteration des desmosomes epidermiques},
  volume       = {43},
  year         = {1989},
}