TYPE-IV GLYCOGENOSIS - CONGENITAL VARIANT - REPORT OF A CASE

Type IV glycogenosis or Andersen disease is characterized by a deficie ncy in branching enzyme. This rare disease is exceptionally seen at bi rth. The clinico-pathological data are then typical : severe hypotonia with hypoventilation and cellular storage, without any hepatosplenome galy. The stored material is PAS positive, sometimes made of cristals and appeared birefringent under polarized light. Granulo-filamentous i nclusions are shown by electron microscopy, essentially observed in mu scle and liver without cirrhosis. Death occurs rapidly. The present ca se was typical. It is the eleventh reported case in the literature.