[Pubmed] Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update

Intégration des publications parues sur PUBMED
Répondre
Avatar du membre

Auteur du sujet
RSS-Bot
Ami(e) de Diamant
Ami(e) de Diamant
Messages : 2983
Enregistré le : 31 mai 2020 09:57
3
Zodiaque :
Âge : 20
Contact :
    Windows 10 Firefox

[Pubmed] Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update

Message par RSS-Bot »


Childs Nerv Syst. 2022 Jul 30. doi: 10.1007/s00381-022-05617-1. Online ahead of print.

ABSTRACT

BACKGROUND: Achondroplasia is the commonest skeletal dysplasia of autosomal dominant inheritance caused by "gain of function" mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum compression due to accelerated ossification and spinal canal stenosis secondary to reduced interpedicular distance is a hallmark of achondroplasia, driven by G380R nucleotide pair substitution. In severe cases, limb weakness and neurogenic claudication will require surgical decompression. Rarely, a neurological condition may mimic the compressive spinal dysfunction and therefore, non-surgical causes must also be considered in cases of acute neurological deterioration in children with achondroplasia. Myasthenia gravis (MG) is an autoimmune condition resulting in fatigable muscle weakness. There are no reported cases of myasthenia gravis in achondroplasia in the literature.

RESULTS: We report a child with achondroplasia scheduled for decompressive surgery for severe lumbar canal stenosis presenting with neurological claudication and knee weakness. While waiting for surgery during the COVID-19 pandemic, she developed generalized fatigability and severe weakness raising concerns of acute worsening of cord compression. Urgent investigations ruled out spinal cord compression but identified an unexpected concurrent myasthenia gravis with positive antibodies to acetylcholine receptors. The surgical intervention was postponed averting the potential risk of life-threatening anaesthetic complications. She was successfully managed with a combination of pyridostigmine, steroids, azathioprine, and plasma exchange.

CONCLUSION: We report the first case of myasthenia gravis in achondroplasia and review implications in the management.

PMID:35908138 | DOI:10.1007/s00381-022-05617-1


Source: https://pubmed.ncbi.nlm.nih.gov/3590813 ... 4&v=2.17.7
Si vous appréciez notre travail, merci de nous soutenir un petit don en cliquant ICI

Pour obtenir la traduction en français,
cliquez sur le bouton situé dans la barre des menus en haut de cette page 

Image


Pour les donateurs, si cet article vous intéresse, nous pouvons faire l’acquisition d'un tiré-à-part.
Merci d'en faire la demande sur association.amis-modo@myasthenie.com


Bonne lecture...
Répondre

Retourner vers « Echos de la recherche »