Mild hydrops as a feature of Glycogen Storage Disease Type IV (Andersen Disease) confirmed by biopsy and enzymatic activity

Abstract

Glycogen Storage Disease Type IV (Andersen Disease) is a rare autosomal recessive condition presenting with severe hypotonia and areflexia in all extremities [1]. Survival for this condition has been reported between 0 day and 5 weeks. Most reported cases are of slightly premature children (average gestational age 36 weeks) presenting with hypotonia and persistent dependence on mechanical ventilation [2,3]. The current standard of diagnosis is muscle biopsy which demonstrates PAS+ intracytoplasmic inclusions of polyglucosan bodies [4]. Hydropic features are not usually a constellation of this disorder, as there have been only 4 other internationally reported cases of such infants, only 1 preterm [5]. Here we report the first U.S.-based case of this disease presenting with hydropic features of soft tissue edema, mild pericardial effusion and bilateral pleural effusions in a preterm infant.