Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Irena Wojsyk-Banaszak, Paulina Sobkowiak, Alicja Bartkowska-Śniatkowska, Valeriia Babak and Barbara Steinborn
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Anna Winczewska-Wiktor: Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, Przybyszewskiego 49, 60-355 Poznan, Poland
Adam Sebastian Hirschfeld: Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland
Magdalena Badura-Stronka: Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland
Irena Wojsyk-Banaszak: Department of Pulmonology, Pediatric Allergy and Clinical Immunology, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Paulina Sobkowiak: Department of Pulmonology, Pediatric Allergy and Clinical Immunology, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Alicja Bartkowska-Śniatkowska: Department of Pediatric Anesthesiology and Intensive Therapy, Poznan University of Medical Sciences, 60-572 Poznan, Poland
Valeriia Babak: Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland
Barbara Steinborn: Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, Przybyszewskiego 49, 60-355 Poznan, Poland

IJERPH, 2022, vol. 19, issue 2, 1-8

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; pyridostigmine; NALCN; apnea (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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