By Gary M. White, MD
Legius syndrome (LS) is an AD-inherited condition in which patients have multiple cafe au lait macules. Of key clinical importance is that LS mimics neurofibromatosis early in life.
- Aka NF-1 like syndrome.
- Lentigines in the armpits (axillary freckling) and groin, may occur in some affected individuals.
- Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention deficit disorder, or attention deficit hyperactivity disorder.
- A heterozygous mutation in SPRED1 gene is responsible.
- It is estimated that about 1-4% of individuals with multiple CALMs have a heterozygous SPRED1 mutation, i.e. Legius syndrome.
Multiple CALMs are seen in multiple family members. Other stigmata of neurofibromatosis, e.g. Lisch nodules, neurofibromas, gliomas are not found.
Patients with CALMs, freckling and no other NF1 diagnostic features should be screened for an NF1 mutation and, if negative, screened for SPRED1 mutation.
A multidisciplinary approach is in order. Laser may be helpful for the CALMs.
A 8-month-old child was suspected to have NF 1, because of the appearance, since few days after birth, of numerous café-au-lait spots (seven larger than 5 mm); no other sign evocative of NF 1 was found. Her family history was remarkable for the presence of multiple café-au-lait spots in the mother, the grandfather and two aunts. The diagnosis of Legius syndrome was confirmed by finding a mutation in SPRED1 gene. Ital J Pediatr. 2015; 41: 8
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