Neurofibromatosis Type I: Difference between revisions
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== Diagnostic Tests/Lab Tests/Lab Values == | == Diagnostic Tests/Lab Tests/Lab Values == | ||
Neruofibramatosis type 1 is diagnosed through through clinical assessment including patient history and physical examination. The National Institutes of Health have developed a diagnostic criteria for NF1 based upon common clinical features. The diagnosis is made by an individual having 2 or more of the following features:<br> | |||
*six or more cafe au laite macules > 5 mm in prepubertal individuals and > 15 mm in diameter in adults. | |||
*Two or more neruorfibromas. | |||
*Freckling in the axillary or inguinal regions. | |||
*Optic glioma visual pathways tumors most often presenting as grade I pilocytic astrocytomas. | |||
*Two or more Lisch Nodules | |||
*Abnormal development of the spine (scoliosis), the sphenoid bone, or the tibia. | |||
*A first degree relative with NF1 | |||
Early diagnosis is challenging because of the variable characteristics of NF1.<references /> Diagnosis my be delayed due to the different ages that features can emerge. <references /> | |||
== Etiology/Causes == | == Etiology/Causes == |
Revision as of 15:15, 4 March 2014
Original Editors -Nick Pucillo & Cody Russell from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Nicholas Pucillo, Cody Russell, Lucinda hampton, Elaine Lonnemann, WikiSysop, Wendy Walker, Kim Jackson and Shaimaa Eldib
Definition/Description[edit | edit source]
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Prevalence[edit | edit source]
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Characteristics/Clinical Presentation[edit | edit source]
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Associated Co-morbidities[edit | edit source]
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Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
Neruofibramatosis type 1 is diagnosed through through clinical assessment including patient history and physical examination. The National Institutes of Health have developed a diagnostic criteria for NF1 based upon common clinical features. The diagnosis is made by an individual having 2 or more of the following features:
- six or more cafe au laite macules > 5 mm in prepubertal individuals and > 15 mm in diameter in adults.
- Two or more neruorfibromas.
- Freckling in the axillary or inguinal regions.
- Optic glioma visual pathways tumors most often presenting as grade I pilocytic astrocytomas.
- Two or more Lisch Nodules
- Abnormal development of the spine (scoliosis), the sphenoid bone, or the tibia.
- A first degree relative with NF1
Early diagnosis is challenging because of the variable characteristics of NF1. Diagnosis my be delayed due to the different ages that features can emerge.
Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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