[Congenital variant of type IV glycogenosis. Anatomoclinical report of a case]

Ann Pathol. 1996 Dec;16(6):449-52.
[Article in French]

Abstract

Type IV glycogenosis or Andersen disease is characterized by a deficiency in branching enzyme. This rare disease is exceptionally seen at birth. The clinico-pathological data are then typical: severe hypotonia with hypoventilation and cellular storage, without any hepatosplenomegaly. The stored material is PAS positive, sometimes made of crystals and appeared birefringent under polarized light. Granulo-filamentous inclusions are shown by electron microscopy, essentially observed in muscle and liver without cirrhosis. Death occurs rapidly. The present case was typical. It is the eleventh reported case in the literature.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Female
  • Glycogen Storage Disease Type IV / pathology*
  • Humans
  • Infant, Newborn