Glycogen storage disease type I physical examination: Difference between revisions
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==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=== | ||
*Patients with | *Patients with h glycogen storage disease type 1 usually have a doll-like facial appearance caused by adipose tissue deposition in the cheeks. | ||
===Vital Signs=== | ===Vital Signs=== | ||
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* Bruises | * Bruises | ||
<gallery widths=150px> | <gallery widths="150px"> | ||
UploadedImage-01.jpg | Description {{dermref}} | UploadedImage-01.jpg | Description {{dermref}} | ||
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===Abdomen=== | ===Abdomen=== | ||
* | *Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat) | ||
===Back=== | ===Back=== | ||
Revision as of 19:27, 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.
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 h glycogen storage disease type 1 usually have a doll-like facial appearance caused by adipose tissue deposition in the 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
-
Description (Adapted from Dermatology Atlas)
-
Description (Adapted from Dermatology Atlas)
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
- 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
- Asymmetric chest expansion / Decreased chest expansion
- Lungs are hypo/hyperresonant
- Fine/coarse crackles upon auscultation of the lung bases/apices unilaterally/bilaterally
- 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
- S1
- S2
- S3
- S4
- 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
- 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
- Patient is usually oriented to persons, place, and time
- Altered mental status
- Glasgow coma scale is ___ / 15
- Clonus may be present
- Hyperreflexia / hyporeflexia / areflexia
- Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
- Muscle rigidity
- Proximal/distal muscle weakness unilaterally/bilaterally
- ____ (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
- Clubbing
- Cyanosis
- Pitting/non-pitting edema of the upper/lower extremities
- Muscle atrophy
- Fasciculations in the upper/lower extremity