Cretinism physical examination: Difference between revisions

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__NOTOC__
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{{Cretinism}}
{{Cretinism}}
{{CMG}}; {{AE}}  
{{CMG}}; {{AE}} {{AEL}}  


==Overview==
==Overview==
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
Patients with cretinism usually appear asymptomatic at the beginning of the disease. Physical examination of patients with cretinism is usually remarkable for [[jaundice]], [[dry skin]], large [[fontanelles]], [[macroglossia]], [[umbilical hernia]], [[bradycardia]], [[delayed puberty]], and [[hypotonia]].  
 
OR
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
==Physical Examination==
==Physical Examination==
Infants born in regions of the world that lack newborn screening programs are more likely to present with symptoms and signs of congenital hypothyroidism, which include lethargy, hoarse cry, feeding problems, often needing to be awakened to nurse, constipation, puffy (myxedematous) facies, macroglossia, umbilical hernia, large fontanels, hypotonia, dry skin, hypothermia, and prolonged jaundice
===Appearance of the Patient===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].  
*Patients with cretinism usually appear asymptomatic at the beginning<ref name="pmid9579233">{{cite journal| author=Law WY, Bradley DM, Lazarus JH, John R, Gregory JW| title=Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early neurodevelopment. | journal=Clin Endocrinol (Oxf) | year= 1998 | volume= 48 | issue= 2 | pages= 201-7 | pmid=9579233 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9579233  }}</ref> 


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


*High-grade / low-grade fever
*[[Hypothermia]]  
*[[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===
*[[Jaundice]]
*[[Jaundice]]
* [[Pallor]]
* [[Pallor]]
* Dry skin  
* [[Xeroderma|Dry skin]]
 
<gallery widths="150px">
 
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}
 
</gallery>


===HEENT===
===HEENT===
* Large fontanelles
* Large [[fontanelles]]  
* Myxedema
* [[Myxedema]]  
* Abnormalities of the head/hair may include ___
* [[Coarse facial features]]
* Evidence of trauma
* [[Macroglossia]]
* 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===
*Goiter
*[[Goiter]]  
 
===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===
===Heart===
*Chest tenderness upon palpation
*[[Bradycardia]]  
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Atrial septal defect|Atrial]] and [[ventricular septal defects]]  
*[[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===
*[[Abdominal distention]]  
* [[Umbilical hernia]]
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
* [[Abdominal distension]]
*[[Rebound tenderness]] (positive Blumberg sign)
[[Image:Cretinism.png|350px|center|thumb| A three month old infant with untreated CH; close up showing abdominal distension and umbilical hernia. Source:By Rastogi and LaFranchi; licensee BioMed Central Ltd. - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903524/figure/F1/, CC BY 2.5, https://commons.wikimedia.org/w/index.php?curid=30525459 ]]
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test
 
===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
* [[Delayed puberty]] in the children
*Inflamed mucosa
* In severe cases, it can cause [[Precocious puberty|pseudo precocious puberty]]:<ref name="pmid7829625">{{cite journal| author=Anasti JN, Flack MR, Froehlich J, Nelson LM, Nisula BC| title=A potential novel mechanism for precocious puberty in juvenile hypothyroidism. | journal=J Clin Endocrinol Metab | year= 1995 | volume= 80 | issue= 1 | pages= 276-9 | pmid=7829625 | doi=10.1210/jcem.80.1.7829625 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7829625  }}</ref>
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
** Enlarged [[breast]] in females
** Enlarged [[testes]] in the males


===Neuromuscular===
===Neuromuscular===
*Patient is usually oriented to persons, place, and time
*Delayed [[Deep tendon reflex|deep tendon reflexes]]
* Altered mental status
*[[Hypotonia]]
* Glasgow coma scale is ___ / 15
*[[Intellectual disability]]
* 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===
===Extremities===
*[[Clubbing]]  
*[[Clubbing]]  
*[[Cyanosis]]  
*[[Cyanosis]]  
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*[[Edema]]  
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==References==
==References==
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​​[[Category:Medicine]]
[[Category:Endocrinology]]
[[Category:Up-To-Date]]​
[[Category:Pediatrics]]

Latest revision as of 20:37, 27 October 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Patients with cretinism usually appear asymptomatic at the beginning of the disease. Physical examination of patients with cretinism is usually remarkable for jaundice, dry skin, large fontanelles, macroglossia, umbilical hernia, bradycardia, delayed puberty, and hypotonia.

Physical Examination

Appearance of the Patient

  • Patients with cretinism usually appear asymptomatic at the beginning[1]

Vital Signs

Skin

HEENT

Neck

Heart

Abdomen

A three month old infant with untreated CH; close up showing abdominal distension and umbilical hernia. Source:By Rastogi and LaFranchi; licensee BioMed Central Ltd. - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903524/figure/F1/, CC BY 2.5, https://commons.wikimedia.org/w/index.php?curid=30525459

Genitourinary

Neuromuscular

Extremities

References

  1. ↑ Law WY, Bradley DM, Lazarus JH, John R, Gregory JW (1998). "Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early neurodevelopment". Clin Endocrinol (Oxf). 48 (2): 201–7. PMID 9579233.
  2. ↑ Anasti JN, Flack MR, Froehlich J, Nelson LM, Nisula BC (1995). "A potential novel mechanism for precocious puberty in juvenile hypothyroidism". J Clin Endocrinol Metab. 80 (1): 276–9. doi:10.1210/jcem.80.1.7829625. PMID 7829625.

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