Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Table of Contents - Year : 2017 | Month : May | Volume : 11 | Issue : 5 | Page : SD01 - SD02

Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy SD01-SD02

Sanjay Kumar, Amit Kumar

Dr. Amit Kumar,
Jyoti Singh, 140 G, IInd Floor, Gautam Nagar, New Delhi-110049, India.

Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by a-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: classical and non-classical (atypical). This case report describes the case of a newborn who presented with generalized hypotonia and elevated serum enzyme levels of aspartate aminotransferase 93 IU/L, lactate dehydrogenase 888 IU/L and creatine kinase 670 g/L. The electrocardiogram showed short PR interval with large QRS complexes with echocardiography suggesting evidence of left ventricular hypertrophy with infiltration in its walls. On the basis of the clinical signs and laboratory results, dried blood spots from the baby were tested to determine the acid a-glucosidase (GAA) activity, and the result confirmed that the GAA activity was only 1.42 units, normal range 5.5 to 29.6 units, leading to a diagnosis of Pompe disease (atypical infantile). Recognizing this disease and initiating enzyme replacement therapy in infants at the earliest can improve the quality of life of patients.