Glycogen storage disease type I physical examination: Difference between revisions
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==Overview== | ==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 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.<ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref> | |||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
Revision as of 14:33, 20 November 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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.
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.