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.


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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