[SMC] Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

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

[SMC] Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Message par RSS-Bot »


Int J Environ Res Public Health. 2022 Jan 11;19(2):775. doi: 10.3390/ijerph19020775.

ABSTRACT

NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of hypotonia and apnea episodes requiring resuscitation. For this reason, treatment with pyridostigmine was introduced. After starting the treatment, a significant improvement was observed in reducing the apnea episodes and slight psychomotor progress. In the course of further diagnostics, CMS was excluded, and CLIFAHDD syndrome was confirmed. Thus, we try to explain a possible mechanism of clinical improvement after the introduction of treatment with pyridostigmine in a patient with a mutation in the NALCN gene.

PMID:35055596 | DOI:10.3390/ijerph19020775


Source: https://pubmed.ncbi.nlm.nih.gov/3505559 ... 0&v=2.17.5
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 « Syndrome Myasthénique Congénital -SMC »