Maladie de Menkes. Description d'un cas avec atteinte prononcee des tissus conjonctifs et alteration des desmosomes epidermiques
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1104916
- author
- Gautier, E ; Frenk, E ; Uske, A ; Queloz, J and Laurini, Ricardo LU
- organization
- alternative title
- Menkes disease. Report of a case with pronounced involvement of connective tissues and changes in epidermal desmosomes
- publishing date
- 1989
- 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
- 2016-04-01 16:42:32
- date last changed
- 2021-09-26 04:04:49
@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}},
}