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Case Reports
. 2022 Jan 11;19(2):775.
doi: 10.3390/ijerph19020775.

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Anna Winczewska-Wiktor  1 , Adam Sebastian Hirschfeld  2 , Magdalena Badura-Stronka  2   3 , Irena Wojsyk-Banaszak  4 , Paulina Sobkowiak  4 , Alicja Bartkowska-Śniatkowska  5 , Valeriia Babak  2 , Barbara Steinborn  1
Affiliations
Case Reports

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Anna Winczewska-Wiktor et al. Int J Environ Res Public Health. .

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.

Keywords: CLIFAHDD; NALCN; apnea; pyridostigmine.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Clinical features in the proband during the neonatal period. The characteristic pattern of limb contractures presenting as (A,B) adducted thumbs, (C) feet, less obvious knees contractures, and equinovarus deformities of feet are shown.
See this image and copyright information in PMC

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