Glycogen storage disease type I physical examination: Difference between revisions

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__NOTOC__
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{{Glycogen storage disease type I}}
{{Glycogen storage disease type I}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}}{{Anmol}}


==Overview==
==Overview==
Clinical manifestations result, directly or indirectly, from
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]].
#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.


==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>
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><ref name="pmid13029898">{{cite journal| author=ZAKON SJ, OYAMADA A, ROSENTHAL IH| title=Eruptive xanthoma and hyperlipemia in glycogen storage disease (von Gierke's disease). | journal=AMA Arch Derm Syphilol | year= 1953 | volume= 67 | issue= 2 | pages= 146-51 | pmid=13029898 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13029898 }} </ref>


===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 [[Cheek|cheeks]].
 
===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 ___
* [[Epistaxis]] may be present due to [[platelet]] dysfunction
* 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===
*[[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===
*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===
*Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)  
*Protruding abdomen due to marked [[hepatomegaly]] (storage of [[glycogen]] and [[fat]])  
 
===Back===
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump
 
===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]]  
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*[[Growth retardation]]  
*Muscle atrophy
*Relatively thin extremities
*Fasciculations in the upper/lower extremity
*[[Xanthoma]] may be found on [[extensor]] surfaces, such as the [[elbows]] and [[knees]]


==References==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Gastroenterology]]
[[Category:Gastroenterology]]
[[Category:Pediatrics]]
[[Category:Up-To-Date]]
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]


{{WH}}
{{WH}}
{{WS}}
{{WS}}

Latest revision as of 17:49, 30 November 2017

Glycogen storage disease type I Microchapters

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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

Lungs

Signs due to hypoglycemia include:

Abdomen

Neuromuscular

Signs due to hypoglycemia in infants include:

Older infants show signs including:

Extremities

References

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

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