ĐẶC ĐIỂM BỆNH LÝ THẦN KINH CƠ TẠI KHOA ĐIỀU TRỊ TÍCH CỰC NỘI KHOA, BỆNH VIỆN NHI TRUNG ƯƠNG

Abstract

Objectives: To describe the spectrum, clinical and laboratory characteristics, respiratory status, and treatment of neuromuscular diseases (NMD) in patients. Methods: A retrospective descriptive study was conducted on 63 pediatric patients diagnosed with NMD at the Pediatric Intensive Care Unit, Vietnam National Children's Hospital, from January 2023 to July 2025. Data regarding diagnostic categories, clinical manifestations, classification of respiratory failure based on PaO₂/PaCO₂, laboratory and imaging findings, PRISM III scores, and specific therapy were collected and analyzed. Results: Among 63 patients, 74.6% had been previously diagnosed as NMD; genetic etiologies accounted for 63.8%, with spinal muscular atrophy being predominant (56.7%), followed by congenital myasthenic syndromes (33.3%). Clinically, 46% of the cases presented with altered mental status. Muscle weakness was common, including respiratory muscle weakness (47.6%), bulbar dysfunction affecting swallowing (49.2%), lower limb weakness (92.1%), and upper limb weakness (84.1%). Hypotonia was documented in 81%. Type 2 respiratory failure occurred more frequently (31.7%) than type 1 (3.2%). Chest X-ray findings revealed pneumonia (85.7%), elevated CK levels (50%), and cardiac abnormalities on echocardiography (58.3%). The median PRISM III score was 3 (IQR: 3 - 7), and 57.1% of patients were classified as having a very low risk of mortality. A total of 31.8% received specific therapy. Conclusion: Children with NMD admitted to the Intensive Care Unit commonly present with impaired consciousness, low predicted mortality risk, and a predominance of type 2 respiratory failure. Most patients exhibit pulmonary abnormalities. The underlying causes are largely genetic, with SMA being the most prominent etiology.