Glycogen storage disease type I physical examination: Difference between revisions
Line 10: | Line 10: | ||
#damage to tissue from hyperuricemia; | #damage to tissue from hyperuricemia; | ||
#in GSD Ib, bleeding and infection risk from blood cell effects. | #in GSD Ib, bleeding and infection risk from blood cell effects. | ||
Main symptoms are particularly in the morning or before feedings. Older infants may present with a doll-like facial appearance, overwhelming hunger, | |||
==Physical Exmaination== | ==Physical Exmaination== | ||
Line 15: | Line 17: | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
*Patients with | *Patients with glycogen storage disease type 1 usually have a doll-like facial appearance caused by adipose tissue deposition in the cheeks. | ||
===Vital Signs=== | ===Vital Signs=== | ||
* | * | ||
===Skin=== | ===Skin=== | ||
Signs due to hypoglycemia include: | |||
* | *Paleness | ||
* | *Sweating | ||
===HEENT=== | ===HEENT=== | ||
* | * | ||
===Neck=== | ===Neck=== | ||
* | * | ||
===Lungs=== | ===Lungs=== | ||
Signs due to hypoglycemia include: | |||
* Hyperventilation | |||
* Apnea | |||
* | |||
* | |||
===Heart=== | ===Heart=== | ||
* | * | ||
===Abdomen=== | ===Abdomen=== | ||
Line 94: | Line 46: | ||
===Back=== | ===Back=== | ||
* | * | ||
===Genitourinary=== | ===Genitourinary=== | ||
* | * | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
Signs due to hypoglycemia in infants include: | |||
*Tremors | |||
*Irritability | |||
*Convulsions | |||
Older infants show signs including: | |||
* Frequent lethargy | |||
* Difficult arousal from sleep | |||
* Tremors | |||
* | |||
* | |||
* | |||
* | |||
* | |||
* | |||
===Extremities=== | ===Extremities=== | ||
* | *Cyanosis | ||
* | *Growth retardation | ||
* | *Relatively thin extremities. | ||
==References== | ==References== |
Revision as of 19:35, 17 November 2017
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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.
Main symptoms are particularly in the morning or before feedings. Older infants may present with a doll-like facial appearance, overwhelming hunger,
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
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.