Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis

摘要: A neonate with deficiency of branching enzyme (glycogenosis type IV) presented symptoms severe hypotonia pre- and postnatally, dilated cardiomyopathy in early infancy. The classical clinical manifestation liver cirrhosis was not present, although amylopectin-like inclusions were found the hepatocytes. In contrast to a previous report, neurons brain stem spinal anterior horns contained PAS-positive, diastase-resistant deposits. combined involvement muscles motor neurones could account for severity hypotonia. muscle biopsy, electromyogram biochemical assays helpful establishing diagnosis.