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Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Author

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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
    Centers of Medical Genetics GENESIS, 60-529 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)

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.

Suggested Citation

  • Anna Winczewska-Wiktor & Adam Sebastian Hirschfeld & Magdalena Badura-Stronka & Irena Wojsyk-Banaszak & Paulina Sobkowiak & Alicja Bartkowska-Śniatkowska & Valeriia Babak & Barbara Steinborn, 2022. "Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine," IJERPH, MDPI, vol. 19(2), pages 1-8, January.
    • Handle: RePEc:gam:jijerp:v:19:y:2022:i:2:p:775-:d:722127
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    References listed on IDEAS

    as
    1. Jiongfang Xie & Meng Ke & Lizhen Xu & Shiyi Lin & Jin Huang & Jiabei Zhang & Fan Yang & Jianping Wu & Zhen Yan, 2020. "Structure of the human sodium leak channel NALCN in complex with FAM155A," Nature Communications, Nature, vol. 11(1), pages 1-13, December.
    2. Marc Kschonsak & Han Chow Chua & Cameron L. Noland & Claudia Weidling & Thomas Clairfeuille & Oskar Ørts Bahlke & Aishat Oluwanifemi Ameen & Zhong Rong Li & Christopher P. Arthur & Claudio Ciferri & S, 2020. "Structure of the human sodium leak channel NALCN," Nature, Nature, vol. 587(7833), pages 313-318, November.
    3. Daniela Kaufer & Alon Friedman & Shlomo Seidman & Hermona Soreq, 1998. "Acute stress facilitates long-lasting changes in cholinergic gene expression," Nature, Nature, vol. 393(6683), pages 373-377, May.
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