Glycogen storage disease type I physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Clinical manifestations result, directly or indirectly, from
- inability to maintain an adequate blood glucose level during the post-absorptive hours of each day;
- organ changes due to glycogen accumulation;
- excessive lactic acid generation;
- damage to tissue from hyperuricemia;
- in GSD Ib, bleeding and infection risk from blood cell effects.
Physical Exmaination
- Physical examination of patients with glycogen storage disease type 1 is usually remarkable for: protruding abdomen due to marked hepatomegaly , short stature, doll-like facial appearance, truncal obesity, and wasted muscles.[1]
Appearance of the Patient
- Patients with glycogen storage disease type 1 usually have a doll-like facial appearance caused by adipose tissue deposition in the cheeks.
Vital Signs
Skin
Signs due to hypoglycemia include:
- Paleness
- Sweating
HEENT
- Epistaxis may be present due to platelet dysfunction
Neck
Lungs
Signs due to hypoglycemia include:
- Hyperventilation
- Apnea
Heart
Abdomen
- Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)
Back
Genitourinary
Neuromuscular
Signs due to hypoglycemia in infants include:
- Tremors
- Irritability
- Convulsions
Older infants show signs including:
- Frequent lethargy
- Difficult arousal from sleep
- Tremors
Extremities
- Cyanosis
- Growth retardation
- Relatively thin extremities
- Xanthoma may be found on extensor surfaces, such as the elbows and knees.