Clinical presentation of 5 Inuit children with glycogen storage disease type III*
| Patient | Age at diagnosis, yr | Sex | Reason for referral | Physical findings |
|---|---|---|---|---|
| 1 | 1.6 | F | Hepatomegaly; unable to walk | Liver span 15 cm; heart murmur; hypotonia |
| 2 | 1.6 | F | Abdominal distension; suspected hypoglycemia | Liver span 15 cm; heart murmur |
| 3 | 0.3 | M | Hepatomegaly | Liver edge 4 cm below costal margin |
| 4 | 1.9 | F | Abdominal distension with hepatomegaly; sister of proband | Liver span 10 cm; heart murmur |
| 5 | 1.0 | M | Hepatomegaly; irritability; need for frequent feedings | Liver 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