questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Erreurs innées du métabolisme des métaux
Maladie de Menkès
Maladie de Menkès : Questions médicales fréquentes
Diagnostic
5
Syndrome de Menkès
Diagnostic médical
Cheveux
Syndrome de Menkès
Retard de développement
Troubles neurologiques
Âge d'apparition
Syndrome de Menkès
Symptômes
5
Symptômes
Syndrome de Menkès
Troubles neurologiques
Hypotonie
Retard de croissance
Développement physique
Cheveux frisés
Syndrome de Menkès
Anomalies dentaires
Syndrome de Menkès
Prévention
5
Prévention
Dépistage génétique
Dépistage prénatal
Génétique
Tests génétiques
Syndrome de Menkès
Conseils génétiques
Syndrome de Menkès
Vaccinations
Prévention des infections
Traitements
5
Suppléments de cuivre
Traitement médical
Efficacité des traitements
Syndrome de Menkès
Thérapie physique
Développement moteur
Soins palliatifs
Syndrome de Menkès
Transfusions sanguines
Syndrome de Menkès
Complications
5
Complications
Troubles neurologiques
Vie quotidienne
Assistance
Mortalité
Syndrome de Menkès
Troubles du comportement
Syndrome de Menkès
Anomalies cardiaques
Syndrome de Menkès
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Sexe
Transmission génétique
Porteurs
Transmission génétique
Facteurs environnementaux
Syndrome de Menkès
Consanguinité
Transmission génétique
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"text": "Le diagnostic repose sur l'examen clinique, l'analyse des cheveux et des tests génétiques."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
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"text": "Des tests de séquençage de l'ADN peuvent identifier des mutations dans le gène ATP7A."
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"@type": "Question",
"name": "Les analyses de cheveux sont-elles utiles ?",
"position": 3,
"acceptedAnswer": {
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"text": "Oui, elles montrent des anomalies typiques, comme des cheveux frisés et cassants."
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},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent cette maladie ?",
"position": 4,
"acceptedAnswer": {
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"text": "Des retards de développement, des troubles neurologiques et des cheveux anormaux sont des indicateurs."
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"name": "À quel âge se manifeste la maladie ?",
"position": 5,
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{
"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les problèmes neurologiques sont-ils fréquents ?",
"position": 7,
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"name": "Y a-t-il des problèmes de croissance ?",
"position": 8,
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{
"@type": "Question",
"name": "Les cheveux sont-ils affectés ?",
"position": 9,
"acceptedAnswer": {
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"text": "Oui, ils sont souvent frisés, cassants et de couleur pâle, d'où le nom de la maladie."
}
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{
"@type": "Question",
"name": "Des problèmes dentaires sont-ils associés ?",
"position": 10,
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{
"@type": "Question",
"name": "Peut-on prévenir la maladie de Menkès ?",
"position": 11,
"acceptedAnswer": {
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"text": "La maladie étant génétique, il n'existe pas de prévention, mais un dépistage peut aider."
}
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{
"@type": "Question",
"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier des mutations génétiques chez le fœtus."
}
},
{
"@type": "Question",
"name": "Les parents porteurs peuvent-ils être testés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent déterminer si les parents sont porteurs de la mutation."
}
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{
"@type": "Question",
"name": "Des conseils génétiques sont-ils disponibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des conseils génétiques peuvent aider les familles à comprendre les risques."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles recommandées ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccinations sont recommandées pour prévenir d'autres infections."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement consiste en des suppléments de cuivre pour compenser le déficit."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils efficaces ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements peuvent améliorer certains symptômes, mais ne guérissent pas la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des thérapies complémentaires ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies physiques et occupationnelles peuvent aider au développement moteur."
}
},
{
"@type": "Question",
"name": "Les soins palliatifs sont-ils nécessaires ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des soins palliatifs peuvent être requis pour gérer les symptômes avancés."
}
},
{
"@type": "Question",
"name": "Les transfusions sanguines sont-elles utiles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les transfusions ne sont pas un traitement pour la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes de croissance."
}
},
{
"@type": "Question",
"name": "La maladie affecte-t-elle la vie quotidienne ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir besoin d'assistance pour les activités quotidiennes."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de mortalité ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès peut réduire l'espérance de vie en raison de complications."
}
},
{
"@type": "Question",
"name": "Les troubles comportementaux sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement peuvent survenir en raison de l'atteinte neurologique."
}
},
{
"@type": "Question",
"name": "Des problèmes cardiaques peuvent-ils se développer ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cardiaques peuvent être associées à la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux de la maladie et des mutations génétiques."
}
},
{
"@type": "Question",
"name": "La maladie est-elle plus fréquente chez certains sexes ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès affecte principalement les garçons en raison de son mode de transmission."
}
},
{
"@type": "Question",
"name": "Les parents porteurs sont-ils à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les parents porteurs de mutations dans le gène ATP7A peuvent transmettre la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, aucun facteur environnemental n'est clairement associé à la maladie."
}
},
{
"@type": "Question",
"name": "Les consanguinités augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les unions consanguines peuvent augmenter le risque de transmission de la maladie."
}
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}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 20/04/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Graduate School of Health Sciences, Teikyo Heisei University, Toshima-ku, Tokyo 170-8445, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Plastic and Reconstructive Surgery, Inonu University Medicine Faculty, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Malatya Educational Research Hospital, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Inonu University Medicine Faculty, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Inonu University Medicine Faculty, Malatya, Turkey. Electronic address: okaslanturk@hotmail.com.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Department of Research Unit, Faculty of Medicine, Toho University, Ota-ku, Tokyo 143-8540, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Publications dans "Maladie de Menkès" :
CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located ...
Trio-whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG)....
WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke-Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We f...
Menke-Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagno...
Assisted reproductive technology (ART) has experienced dramatic progress over the last 30 years, and gamete donation is routine in fertility clinics. Major advances in genetic diagnostics are part of ...
To investigate the etiology and preventive measures of posttransplant kinky or curly hair growth after female hairline correction surgery....
Hair transplant surgery can be accompanied by various adverse effects, one of which is severely kinky or curly hair after surgery. Posttransplant kinky or curly hair is not well-understood for its cau...
The study was targeted at a total of 980 patients who were confirmed whether they developed kinky or curly hair after female hairline correction surgery. Incidence, surgical method, degree of curlines...
Among the total 980 patients, posttransplant curly hair (PTCH) was manifested in 38(3.9%) patients. None of the patients who underwent surgery at the present clinic developed posttransplant kinky hair...
Familiarity with the cause, prevention, and management of posttransplant kinky hair and PTCH will be of great help to hair surgeons....
Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin concentrations, leading to multiple ...
A 4-month-old male patient presented with recurrent seizures. He had cognitive, intellectual, growth, gross motor, precision movement, and language developmental lags. The patient's hemoglobin and ser...
A comprehensive and intuitive understanding of the disease's imaging manifestations can help clinicians to identify the disease and avoid delays in care....
Menke-Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in...
A review of the available literature was conducted, aimed at underscoring the difficulties in diagnosing MHS based on phenotype particularities....
Five applicable studies were identified by searching PubMed, Web of Science, and Scopus databases for publications up to November 2021 using the key terms "Menke-Hennekam syndrome" and "...
In this paper, we present a new case and highlight the importance of exome sequencing to identify different mutations of exons 30 and 31 of the...
Hair tourniquet syndrome (HTS) is a rare surgical emergency caused by a hair or thread wrapping around an appendage. We aimed to present our clinical experience with HTS of toes and attract physicians...
Between January 2012 and September 2022; 26 patients (25 pediatric and one adult case) were treated for HTS. All pediatric cases were treated surgically under loop magnification. The adult patient was...
Thirty-six toes of 25 patients (13 boys, 11 girls, and a male adult) were included in the study. The mean age of pediatric patients was 126.6 days. The third toe was the most affected (n:16), followed...
HTS should be treated as soon as possible when diagnosed to prevent further complications including appendage loss....
CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce ...
The aim of the study was to evaluate adrenal axis hyperactivation measuring hair cortisol levels, and its influence on the relationship among metabolic parameters, inflammation markers and androgens i...
Hair thread tourniquet syndrome (HTS) is a pediatric condition in which human hair or synthetic fiber encircles and strangulates a body appendage causing tissue necrosis. Few epidemiologic studies hav...
Medical records of all infants up to 1 year old seen in the orthopedic emergency department of Galilee Medical Center were searched for the diagnosis of HTS or its ICD equivalent....
Forty-one cases of hair tourniquet syndrome (HTS) were reviewed. Most cases (68%) occurred during the winter months (December to February). There were no reports between June to August (summer). The m...
HTS in our population is a phenomenon that seems to occur mostly in winter. Infants between 3 and 5 months are at greater risk. Toes are more affected than fingers. The most involved toes are the 3rd ...
Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, 'kinky' hair, connective tissue dysfuncti...