Legius syndrome

Legius syndrome
DiseasesDB	34916

WikiDoc Resources for Legius syndrome
Articles
Most recent articles on Legius syndrome Most cited articles on Legius syndrome Review articles on Legius syndrome Articles on Legius syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Legius syndrome Images of Legius syndrome Photos of Legius syndrome Podcasts & MP3s on Legius syndrome Videos on Legius syndrome
Evidence Based Medicine
Cochrane Collaboration on Legius syndrome Bandolier on Legius syndrome TRIP on Legius syndrome
Clinical Trials
Ongoing Trials on Legius syndrome at Clinical Trials.gov Trial results on Legius syndrome Clinical Trials on Legius syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Legius syndrome NICE Guidance on Legius syndrome NHS PRODIGY Guidance FDA on Legius syndrome CDC on Legius syndrome
Books
Books on Legius syndrome
News
Legius syndrome in the news Be alerted to news on Legius syndrome News trends on Legius syndrome
Commentary
Blogs on Legius syndrome
Definitions
Definitions of Legius syndrome
Patient Resources / Community
Patient resources on Legius syndrome Discussion groups on Legius syndrome Patient Handouts on Legius syndrome Directions to Hospitals Treating Legius syndrome Risk calculators and risk factors for Legius syndrome
Healthcare Provider Resources
Symptoms of Legius syndrome Causes & Risk Factors for Legius syndrome Diagnostic studies for Legius syndrome Treatment of Legius syndrome
Continuing Medical Education (CME)
CME Programs on Legius syndrome
International
Legius syndrome en Espanol Legius syndrome en Francais
Business
Legius syndrome in the Marketplace Patents on Legius syndrome
Experimental / Informatics
List of terms related to Legius syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2] Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[3]

Synonyms and keywords: Neurofibromatosis, type 1-like syndrome

Overview

Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots.

Historical Perspective

• It was first described in 2007 and is often mistaken for Neurofibromatosis type I (NF-1).
• The syndrome is named after Eric Legius, Professor at the Katholieke Universiteit Leuven|Catholic University of Leuven.

Pathophysiology

Genetics

It is caused by mutations in the SPRED1 gene.

Differentiating Legius syndrome from other Diseases

Neurofibromatosis type 1

• Features common in neurofibromatosis - Lisch nodules, bone abnormalities, neurofibromas, optic nerve gliomas and malignant peripheral nerve sheath tumors - are absent in this condition.

• The similarity of symptoms stem from the fact that the different genes affected in the two syndromes code for proteins that carry out a similar task in the same reaction pathway.

• A genetic test is often the only way to make sure a person has Legius syndrome and not NF-1.

• Because of this difference, Legius syndrome is often seen as the less severe of the two syndromes.

Diagnosis

Symptoms

• Learning disabilities
• Developmental delay

Physical Examination

Skin

• Nearly all patients show multiple Café au lait spots.
• Freckles in the armpits and/or groin
• Lipomas

Head

• Macrocephaly

Neurologic

• Developmental delay

Other

• ADHD

Other Diagnostic Studies

• Genetic testing is necessary to identify the syndrome.
• The test checks for loss of function mutations in the SPRED1 gene.

References

Template:WS