nihms646756f3

Photographs of patients with infantile onset Pompe disease. The sib pair (A, B; patients 1 and 2 respectively) have non-classical IOPD while patient 3 (C) has classical IOPD with macroglossia, tracheostomy and severe hypotonia. Abnormal EKG of patient 3 shows sinus tachycardia, short PR interval, ST segment and T wave abnormalities as well as left ventricular hypertrophy. | Dasouki, M., Jawdat, O., Almadhoun, O., Pasnoor, M., McVey, A. L., Abuzinadah, A., … Dimachkie, M. M. (2014). Pompe disease: literature review and case series. Neurologic Clinics, 32(3), 751–ix. https://doi.org/10.1016/j.ncl.2014.04.010

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