Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, Przybyszewskiego 49, 60-355 Poznan, Poland.
Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland.
Int J Environ Res Public Health. 2022 Jan 11;19(2):775. doi: 10.3390/ijerph19020775.
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.
突变导致复杂的神经发育综合征，包括婴儿期肌张力减退伴精神运动发育迟缓及特征性面容（IHPRF）和先天性四肢和面部挛缩、肌张力减退和发育迟缓（CLIFAHDD），它们分别为隐性和显性遗传。我们介绍了一位患者，由于存在肌张力减退和需要复苏的呼吸暂停发作，怀疑患有先天性肌无力综合征（CMS）。为此，引入了吡啶斯的明治疗。开始治疗后，观察到呼吸暂停发作减少和轻微的精神运动进展有显著改善。在进一步的诊断过程中，排除了 CMS，并确诊为 CLIFAHDD 综合征。因此，我们试图解释在引入吡啶斯的明治疗后，携带 基因突变的患者临床改善的可能机制。
