In 1929, von Gierke1 first described a syndrome which he called glycogenic hepatonephromegaly. He reported the cases of two patients, aged 8 and 4½ years, both of which came to autopsy undiagnosed. The postmortem examination revealed, in both cases, a tremendously enlarged liver, moderately enlarged kidneys and, in one case, hypoplastic suprarenal glands. Microscopically, the cells of the liver and of the collecting tubules of the kidneys were packed with glycogen.
Since this report was published, four cases of a similar nature have been described. At present we have under observation, at the Mount Sinai Hospital, a child whose history, physical examination, clinical course and laboratory data in many ways resemble those of the cases previously reported. We feel that the case is of sufficient interest to be reported and compared with the seven other cases found in the literature.
REPORT OF CASE
History.—The patient, an Italian boy,
RAUH L, ZELSON C. DISTURBANCE IN GLYCOGEN METABOLISM WITH HEPATOMEGALY: (VON GIERKE'S DISEASE). Am J Dis Child. 1934;47(4):808–820. doi:10.1001/archpedi.1934.01960110091009
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: