Subependymal giant cell astrocytoma physical examination: Difference between revisions

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__NOTOC__
__NOTOC__
{{Subependymal giant cell astrocytoma}}
{{Subependymal giant cell astrocytoma}}
{{CMG}}{{AE}}{{SR}}
{{CMG}} {{AE}}{{IO}}, {{SR}}


==Overview==
==Overview==
Common physical examination findings of subependymal giant cell astrocytoma include [[papilledema]], [[vision loss|vision field defects]], [[developmental delay]], [[mental retardation]], [[aphasia]], [[sensory loss]], and [[hemiparesis]].<ref name="SasongkoIsmail2015">{{cite journal|last1=Sasongko|first1=Teguh Haryo|last2=Ismail|first2=Nur Farrah Dila|last3=Nik Abdul Malik|first3=Nik Mohamad Ariff|last4=Zabidi-Hussin|first4=Z. A. M. H.|title=Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis|journal=Orphanet Journal of Rare Diseases|volume=10|issue=1|year=2015|issn=1750-1172|doi=10.1186/s13023-015-0317-7}}</ref><ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref>
Common [[physical examination]] findings in patients with subependymal giant cell astrocytoma include hypomelanotic [[macules]], retinal [[hamartomas]], sensory deficits, and [[muscle weakness]]. Because subependymal giant cell astrocytoma is predominantly seen in people with [[tuberous sclerosis]], the examination findings listed are those seen in [[tuberous sclerosis]] patients.


==Physical Examination==
==Physical Examination==
Common physical examination findings of subependymal giant cell astrocytoma include:<ref name="SasongkoIsmail2015">{{cite journal|last1=Sasongko|first1=Teguh Haryo|last2=Ismail|first2=Nur Farrah Dila|last3=Nik Abdul Malik|first3=Nik Mohamad Ariff|last4=Zabidi-Hussin|first4=Z. A. M. H.|title=Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis|journal=Orphanet Journal of Rare Diseases|volume=10|issue=1|year=2015|issn=1750-1172|doi=10.1186/s13023-015-0317-7}}</ref><ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref><ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref><ref name="pmid15505165">{{cite journal| author=Goh S, Butler W, Thiele EA| title=Subependymal giant cell tumors in tuberous sclerosis complex. | journal=Neurology | year= 2004 | volume= 63 | issue= 8 | pages= 1457-61 | pmid=15505165 | doi=10.1212/01.wnl.0000142039.14522.1a | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15505165  }} </ref>
Due to the fact that subependymal giant cell astrocytoma is predominantly seen in people with [[tuberous sclerosis]], majority of the [[physical examination]] findings are those in [[tuberous sclerosis]] patients. The common [[physical examination]] findings include:<ref name="SasongkoIsmail2015">{{cite journal|last1=Sasongko|first1=Teguh Haryo|last2=Ismail|first2=Nur Farrah Dila|last3=Nik Abdul Malik|first3=Nik Mohamad Ariff|last4=Zabidi-Hussin|first4=Z. A. M. H.|title=Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis|journal=Orphanet Journal of Rare Diseases|volume=10|issue=1|year=2015|issn=1750-1172|doi=10.1186/s13023-015-0317-7}}</ref><ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref><ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref><ref name="pmid15505165">{{cite journal| author=Goh S, Butler W, Thiele EA| title=Subependymal giant cell tumors in tuberous sclerosis complex. | journal=Neurology | year= 2004 | volume= 63 | issue= 8 | pages= 1457-61 | pmid=15505165 | doi=10.1212/01.wnl.0000142039.14522.1a | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15505165 }} </ref><ref name="pmid24053982">{{cite journal| author=Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group| title=Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. | journal=Pediatr Neurol | year= 2013 | volume= 49 | issue= 4 | pages= 243-54 | pmid=24053982 | doi=10.1016/j.pediatrneurol.2013.08.001 | pmc=4080684 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24053982 }} </ref>


===Appearance===
===Appearance===
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===Vital Signs===
===Vital Signs===
*Vital signs of patients with subependymal giant cell astrocytoma are usually normal.
*[[Vital signs]] of patients with subependymal giant cell astrocytoma are usually normal.


===Skin===
===Skin===
*Hypomelanotic macules  
*Hypomelanotic [[Macule|macules]]
*Confetti skin lesions  
*Confetti skin lesions  
*Facial angiofibromas  
*Facial angiofibromas  
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===HEENT===
===HEENT===
*Ophthalmoscopic exam may be abnormal with findings of papilledema and visual field defects.
*Ophthalmoscopic exam may be abnormal with findings of [[papilledema]] and [[Visual field defect|visual field defects]].
*Retinal hamartomas


===Neurological===
===Neck===
*[[Developmental delay]]
*Neck examination of patients with subependymal giant cell astrocytoma is usually normal.
*[[Cognition|Cognitive disability]]
 
===Lungs===
*[[Pulmonary]] examination of patients with subependymal giant cell astrocytoma is usually normal.
 
===Heart===
*[[Cardiovascular]] examination of patients with subependymal giant cell astrocytoma is usually normal.
 
===Abdomen===
*Abdominal examination of patients with subependymal giant cell astrocytoma is usually normal.
 
===Back===
*Back examination of patients with subependymal giant cell astrocytoma is usually normal.
 
===Genitourinary===
*Genitourinary examination of patients with subependymal giant cell astrocytoma is usually normal.
 
===Neuromuscular===
*[[Aphasia]]
*[[Aphasia]]
*[[Sensory loss]]
*[[Sensory loss]]
*[[Hemiparesis]]
*[[Hemiparesis]]
*[[Muscle weakness]]
===Extremities===
*Extremities examination of patients with subependymal giant cell astrocytoma is usually normal.


==References==
==References==

Latest revision as of 20:51, 5 November 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ifeoma Odukwe, M.D. [2], Sujit Routray, M.D. [3]

Overview

Common physical examination findings in patients with subependymal giant cell astrocytoma include hypomelanotic macules, retinal hamartomas, sensory deficits, and muscle weakness. Because subependymal giant cell astrocytoma is predominantly seen in people with tuberous sclerosis, the examination findings listed are those seen in tuberous sclerosis patients.

Physical Examination

Due to the fact that subependymal giant cell astrocytoma is predominantly seen in people with tuberous sclerosis, majority of the physical examination findings are those in tuberous sclerosis patients. The common physical examination findings include:[1][2][3][4][5]

Appearance

  • Patients with subependymal giant cell astrocytoma usually appear normal.

Vital Signs

  • Vital signs of patients with subependymal giant cell astrocytoma are usually normal.

Skin

  • Hypomelanotic macules
  • Confetti skin lesions
  • Facial angiofibromas
  • Shagreen patches
  • Fibrous cephalic plaques
  • Ungual fibromas

HEENT

Neck

  • Neck examination of patients with subependymal giant cell astrocytoma is usually normal.

Lungs

  • Pulmonary examination of patients with subependymal giant cell astrocytoma is usually normal.

Heart

  • Cardiovascular examination of patients with subependymal giant cell astrocytoma is usually normal.

Abdomen

  • Abdominal examination of patients with subependymal giant cell astrocytoma is usually normal.

Back

  • Back examination of patients with subependymal giant cell astrocytoma is usually normal.

Genitourinary

  • Genitourinary examination of patients with subependymal giant cell astrocytoma is usually normal.

Neuromuscular

Extremities

  • Extremities examination of patients with subependymal giant cell astrocytoma is usually normal.

References

  1. Sasongko, Teguh Haryo; Ismail, Nur Farrah Dila; Nik Abdul Malik, Nik Mohamad Ariff; Zabidi-Hussin, Z. A. M. H. (2015). "Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis". Orphanet Journal of Rare Diseases. 10 (1). doi:10.1186/s13023-015-0317-7. ISSN 1750-1172.
  2. Ouyang, Taohui; Zhang, Na; Benjamin, Thomas; Wang, Long; Jiao, Jiantong; Zhao, Yiqing; Chen, Jian (2014). "Subependymal giant cell astrocytoma: current concepts, management, and future directions". Child's Nervous System. 30 (4): 561–570. doi:10.1007/s00381-014-2383-x. ISSN 0256-7040.
  3. Roth, Jonathan; Roach, E. Steve; Bartels, Ute; Jóźwiak, Sergiusz; Koenig, Mary Kay; Weiner, Howard L.; Franz, David N.; Wang, Henry Z. (2013). "Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012". Pediatric Neurology. 49 (6): 439–444. doi:10.1016/j.pediatrneurol.2013.08.017. ISSN 0887-8994.
  4. Goh S, Butler W, Thiele EA (2004). "Subependymal giant cell tumors in tuberous sclerosis complex". Neurology. 63 (8): 1457–61. doi:10.1212/01.wnl.0000142039.14522.1a. PMID 15505165.
  5. Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group (2013). "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference". Pediatr Neurol. 49 (4): 243–54. doi:10.1016/j.pediatrneurol.2013.08.001. PMC 4080684. PMID 24053982.


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