Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.
Int J Environ Res Public Health
; 19(2)2022 01 11.
Article
em En
| MEDLINE
| ID: mdl-35055596
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Contratura
/
Apneia do Sono Tipo Central
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article