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: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

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.

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]^[2]

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.

Skin

Signs due to hypoglycemia include:

HEENT

Epistaxis may be present due to platelet dysfunction

Lungs

Signs due to hypoglycemia include:

Abdomen

Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)

Neuromuscular

Signs due to hypoglycemia in infants include:

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

References

↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
↑ ZAKON SJ, OYAMADA A, ROSENTHAL IH (1953). "Eruptive xanthoma and hyperlipemia in glycogen storage disease (von Gierke's disease)". AMA Arch Derm Syphilol. 67 (2): 146–51. PMID 13029898.

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[pmid17552001-1] Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.

[pmid13029898-2] ZAKON SJ, OYAMADA A, ROSENTHAL IH (1953). "Eruptive xanthoma and hyperlipemia in glycogen storage disease (von Gierke's disease)". AMA Arch Derm Syphilol. 67 (2): 146–51. PMID 13029898.

[1]

[2]