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Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.

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.

SUBMITTER: Winczewska-Wiktor A

PROVIDER: S-EPMC8776169 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:The incidence of Dressler's syndrome after myocardial infarction (MI) has decreased in the reperfusion therapy era. Although guidelines recommend high-dose aspirin for treatment based on evidence from the pre-percutaneous coronary intervention (pre-PCI) era, bleeding and thrombotic concerns occurred upon aspirin administration after coronary stenting. A 69-year-old man with recent MI was admitted to our hospital. The patient presented with chest pain 1 week before admission. Electrocardiography revealed newly detected atrial fibrillation with no ST segment change. Urgent coronary angiography demonstrated a left circumflex artery occlusion. He underwent PCI, and a sirolimus-eluting stent was deployed. Aspirin, prasugrel, and apixaban were administered. However, hospital discharge was delayed because he developed heart failure during hospitalization. Twenty-three days after admission, he developed a fever of >39 °C. Electrocardiography showed anterior ST segment elevation, and echocardiography revealed a 6-mm pericardial effusion. We diagnosed the patient with Dressler's syndrome, and colchicine 0.5 mg/day + acetaminophen 2000 mg/day were administered. His condition clinically improved after treatment and he was discharged 32 days after admission. There was hesitation about administration of high-dose aspirin in a patient who has undergone recent coronary stenting. Combination therapy of colchicine and acetaminophen could be a treatment option for Dressler's syndrome. <Learning objective: Guidelines recommend high-dose aspirin for the treatment of Dressler's syndrome based on evidence from the pre-percutaneous coronary intervention (pre-PCI) era. However, bleeding and thrombotic concerns are present upon high-dose aspirin administration in patients who have undergone PCI. Therefore, a combination therapy of low-dose colchicine and acetaminophen could be a treatment option for patients with Dressler's syndrome who have undergone recent coronary stenting.>.

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Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.

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