Table 1:

Clinical presentation of 5 Inuit children with glycogen storage disease type III*

PatientAge at diagnosis, yrSexReason for referralPhysical findings
11.6FHepatomegaly; unable to walkLiver span 15 cm; heart murmur; hypotonia
21.6FAbdominal distension; suspected hypoglycemiaLiver span 15 cm; heart murmur
30.3MHepatomegalyLiver edge 4 cm below costal margin
41.9FAbdominal distension with hepatomegaly; sister of probandLiver span 10 cm; heart murmur
51.0MHepatomegaly; irritability; need for frequent feedingsLiver edge at right iliac fossa
  • Note: F = female, M = male.

  • ↵* Adapted from Zimakas and Rodd, in which the first 4 patients’ cases were detailed.6