Affiliations: Division of Neonatology, Department of Pediatrics,
Stony Brook University School of Medicine, Stony Brook, NY, USA | Division of Neuropathology, Department of Pathology,
Columbia University College of Physicians and Surgeons, New York, NY, USA | Division of Neonatology, Department of Pediatrics, New
York University School of Medicine, New York, NY, USA
Note: [] Corresponding author: Shetal Shah, MD, 27 Donna Lane, Syosset,
NY 11791, USA. Tel.: +1 917 940 2262; E-mail: [email protected]
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.
