Glycogen storage disease type I physical examination: Difference between revisions
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{{Glycogen storage disease type I}} | {{Glycogen storage disease type I}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Anmol}} | ||
==Overview== | ==Overview== | ||
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===Appearance of the Patient=== | ===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. | *Patients with glycogen storage disease type 1 usually have a doll-like facial appearance caused by adipose tissue deposition in the cheeks. | ||
===Skin=== | ===Skin=== | ||
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===HEENT=== | ===HEENT=== | ||
* [[Epistaxis]] may be present due to platelet dysfunction | * [[Epistaxis]] may be present due to platelet dysfunction | ||
===Lungs=== | ===Lungs=== | ||
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* Hyperventilation | * Hyperventilation | ||
* Apnea | * Apnea | ||
===Abdomen=== | ===Abdomen=== | ||
*Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat) | *Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat) | ||
===Neuromuscular=== | ===Neuromuscular=== |
Revision as of 20:00, 21 November 2017
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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]
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:
- Paleness
- Sweating
HEENT
- Epistaxis may be present due to platelet dysfunction
Lungs
Signs due to hypoglycemia include:
- Hyperventilation
- Apnea
Abdomen
- Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)
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.