Clinical laboratory · 2020
A 2-Year-Old Child with Late-Onset Pompe Disease: a Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Li Suyun, Zhu Cuiping, Li Peiqing
Аннотация
BACKGROUND: Pompe disease is an inherited neuromuscular disease caused by a deficiency of lysosomal acid alphaglucosidase (GAA) leading to glycogen accumulation in muscle and motor neurons.
METHODS: We retrospectively collected the clinical information on the case of a 2-year-old child admitted to the emergency department with respiratory failure and generalized hypotonia.
RESULTS: Chest radiograph, cerebral and spinal magnetic resonance imaging, muscle biopsy, etc. were all examined. The 2-year-old child was later diagnosed with Pompe disease. Systematic assessment and effective sedation management were applied.
CONCLUSIONS: Differential diagnosis, systematic assessment, and effective sedation management are important for Pompe disease patients.
METHODS: We retrospectively collected the clinical information on the case of a 2-year-old child admitted to the emergency department with respiratory failure and generalized hypotonia.
RESULTS: Chest radiograph, cerebral and spinal magnetic resonance imaging, muscle biopsy, etc. were all examined. The 2-year-old child was later diagnosed with Pompe disease. Systematic assessment and effective sedation management were applied.
CONCLUSIONS: Differential diagnosis, systematic assessment, and effective sedation management are important for Pompe disease patients.