Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Overview

Journal Int J Environ Res Public Health

Publisher MDPI

Specialties Environmental Health
Public Health

Date 2022 Jan 21

PMID 35055596

Authors

Anna Winczewska-Wiktor

Adam Sebastian Hirschfeld

Magdalena Badura-Stronka

Irena Wojsyk-Banaszak

Paulina Sobkowiak

Alicja Bartkowska-Sniatkowska

Valeriia Babak

Barbara Steinborn

Affiliations

Soon will be listed here.

Abstract

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 gene.

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