Glycogen storage disease type I physical examination: Difference between revisions

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#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==
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===Appearance of the Patient===
===Appearance of the Patient===
*Patients with h 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.  


===Vital Signs===
===Vital Signs===


*High-grade / low-grade fever
*
*[[Hypothermia]] / hyperthermia may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]


===Skin===
===Skin===
*[[Cyanosis]]
Signs due to hypoglycemia include:
*[[Jaundice]]
*Paleness
* [[Pallor]]
*Sweating
* Bruises
 
<gallery widths="150px">
 
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}
 
</gallery>


===HEENT===
===HEENT===
* Abnormalities of the head/hair may include ___
*  
* Evidence of trauma
* Icteric sclera
* [[Nystagmus]]
* Extra-ocular movements may be abnormal
*Pupils non-reactive to light / non-reactive to accomodation / non-reactive to neither light nor accomodation
*Ophthalmoscopic exam may be abnormal with findings of ___
* Hearing acuity may be reduced
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae / tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae


===Neck===
===Neck===
*[[Jugular venous distension]]
*
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]


===Lungs===
===Lungs===
* Asymmetric chest expansion / Decreased chest expansion
Signs due to hypoglycemia include:
*Lungs are hypo/hyperresonant
* Hyperventilation
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
* Apnea
*Rhonchi
*Vesicular breath sounds / Distant breath sounds
*Expiratory/inspiratory wheezing with normal / delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]


===Heart===
===Heart===
*Chest tenderness upon palpation
*
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the otoscope


===Abdomen===
===Abdomen===
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===Back===
===Back===
*Point tenderness over __ vertebrae (e.g. L3-L4)
*
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===
*A pelvic/adnexal mass may be palpated
*
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge


===Neuromuscular===
===Neuromuscular===
*Patient is usually oriented to persons, place, and time
Signs due to hypoglycemia in infants include:
* Altered mental status
*Tremors
* Glasgow coma scale is ___ / 15
*Irritability
* Clonus may be present
*Convulsions
* Hyperreflexia / hyporeflexia / areflexia
Older infants show signs including:
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Frequent lethargy
* Muscle rigidity
* Difficult arousal from sleep
* Proximal/distal muscle weakness unilaterally/bilaterally
* Tremors
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
===Extremities===
*[[Clubbing]]
*Cyanosis
*[[Cyanosis]]
*Growth retardation
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Relatively thin extremities.
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==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

  1. inability to maintain an adequate blood glucose level during the post-absorptive hours of each day;
  2. organ changes due to glycogen accumulation;
  3. excessive lactic acid generation;
  4. damage to tissue from hyperuricemia;
  5. 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.

References

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

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