Legius syndrome

Legius syndrome
DiseasesDB	34916

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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

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