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 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 pathway 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 LS 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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