Epilepsie réfractaire et hyperlactacidémie chez un nourrisson : la maladie de Menkès, un diagnostic à envisager. A propos d’un cas (notice n° 274532)
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| fixed length control field | 03600cam a2200433 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250117193014.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Mondésert, Étienne |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Epilepsie réfractaire et hyperlactacidémie chez un nourrisson : la maladie de Menkès, un diagnostic à envisager. A propos d’un cas |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2020.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 60 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | RésuméLa maladie de Menkès est une maladie génétique rare du métabolisme du cuivre causée par une mutation inactivatrice du gène ATP7A. Il en résulte un défaut d’absorption intestinale du cuivre, une carence tissulaire et un dysfonctionnement des cupro-enzymes dont la cytochrome c oxydase. Il s’agit d’une maladie multi-systémique dont les signes cliniques apparaissent dès les premiers mois de vie incluant notamment une épilepsie sévère et un aspect caractéristique des cheveux. Nous rapportons l’observation d’un cas chez un nourrisson de 3 mois hospitalisé suite à une crise tonico-clonique partielle. Le bilan biologique révèle une hyperlactacidémie et une hyperlactatorachie. Les premières explorations infectieuses, métaboliques et génétiques sont négatives. Suite à la récidive de crises multifocales de nouvelles investigations sont réalisées avec un point d’appel sur la répartition et l’aspect anormal des cheveux. Les taux de céruloplasmine et cuivre plasmatiques effondrés sont compatibles avec une maladie de Menkès. L’analyse moléculaire du gène ATP7A a permis de confirmer le diagnostic par la mise en évidence d’une mutation non-sens. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Menkes disease is an X-linked recessive disorder affecting copper metabolism due to an inactivating mutation of ATP7A gene. This result in loss of copper intestinal absorption, tissue deficiency and failure in multiple essential copper-enzyme systems such as the cytochrome c oxidase. Symptoms usually occur during the first months of life with neurological signs such as epilepsy associated to other signs among them typical hair appearance. We report the case of a 3 month-old infant hospitalized due to partial tonic-clonic seizures. Laboratory findings showed increased of lactates in blood and in cerebrospinal fluid. First screenings for infectious, metabolic and genetic causes were negative. After recurrence of multifocal seizures further investigations are made according to the presence of thick and tortuous hair. Low levels of ceruloplasmin and copper in plasma are in agreement with the suspected diagnosis of Menkes disease. Molecular analysis of the ATP7A gene confirmed the diagnosis with a non-sens mutation. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Menkès |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | cuivre |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | céruloplasmine |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | ATP7A |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | épilepsie |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hyperlactacidémie |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Menkes disease |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | copper |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | ATP7A |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hyperlactacidemia |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | epilepsy |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | ceruloplasmin |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roubertie, Agathe |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Girard, Mathilde |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leboucq, Nicolas |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baud, Catherine |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cuntz, Danielle |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cristol, Jean-Paul |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivier, François |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cambonie, Gilles |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leydet, Julie |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Badiou, Stéphanie |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Annales de Biologie Clinique | 78 | 4 | 2020-07-01 | p. 441-445 | 0003-3898 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-annales-de-biologie-clinique-2020-4-page-441?lang=fr&redirect-ssocas=7080">https://shs.cairn.info/revue-annales-de-biologie-clinique-2020-4-page-441?lang=fr&redirect-ssocas=7080</a> |
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