title: [Menkes disease. Report of a case with pronounced involvement of connective tissues and changes in epidermal desmosomes].
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.
authors.affiliation: Service de Pédiatrie, CHUV, Lausanne.
authors.forename: E
authors.initials: E
authors.lastname: Gautier
authors.forename: E
authors.initials: E
authors.lastname: Frenk
authors.forename: A
authors.initials: A
authors.lastname: Uske
authors.forename: J
authors.initials: J
authors.lastname: Queloz
authors.forename: R
authors.initials: R
authors.lastname: Laurini
mesh_terms: D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D003238:Connective Tissue / Q000473:pathology*; D003896:Desmosomes / Q000648:ultrastructure*; D005598:Fractures, Spontaneous / Q000473:pathology; D006801:Humans; D006810:Humeral Fractures / Q000473:pathology; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000473:pathology*; D008854:Microscopy, Electron; D010013:Osteogenesis Imperfecta / Q000473:pathology; D012867:Skin / Q000473:pathology*; D014057:Tomography, X-Ray Computed
vernacular_title: Maladie de Menkes. Description d'un cas avec atteinte prononcée des tissus conjonctifs et altération des desmosomes épidermiques.