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5th February 2024

A 9-month-old female presents with shortness of breath.

A 9-month-old female presents with shortness of breath. Her mother also notes delayed developmental milestones. Examination reveals bilateral crepitations and normal cardiac examination. Neurological examination revealed global hypotonia. ECG shows signs of LV hypertrophy. The echocardiogram shows concentric LV hypertrophy with LV hypokinesia. US abdomen shows moderate hepatomegaly. Alfa-glucosidase levels were reduced. 

Which type of glycogen storage disorder is associated with this?

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