Nota Clínica

A novel neurocutaneous syndrome: Legius syndrome. A case report

M. Cemeli-Cano, J.L. Peña-Segura, R. Fernando-Martínez, S. Izquierdo-Álvarez, L. Monge-Galindo, J. López-Pisón [REV NEUROL 2014;59:209-212] PMID: 25156025 DOI: https://doi.org/10.33588/rn.5905.2014066

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Volumen 59 | Number 05 | Nº of views of the article 17.279 | Nº of PDF downloads 676 | Article publication date 01/09/2014

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ABSTRACT

INTRODUCTION Legius syndrome is an autosomal dominant disorder caused by the mutation in the SPRED1 gene involving a negative regulator of the RAS-MAPK pathway, similar to neurofibromin and therefore shows some clinical similarities to neurofibromatosis type I (NF1) but less severe. These patients have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, dysmorphic features, lipomas, and mild learning disabilities. However, this syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules or tumor predisposition.

CASE REPORT We present a 10 months child, without a personal interest history, consulting by hypotonic extremities, cafe-au-lait spots and mild psychomotor difficult. Mother’s sister and grandfather have some cafe-au-lait spots. In our patient, NF1 genetic study was negative, but we observe a mutation in the SPRED1 gene, compatible with Legius syndrome. Asymptomatic mother shows the same mutation in SPRED1 gene. CONCLUSION. We emphasize the relevance of the differential diagnosis of NF1 with respect to numerous complications to appear, with a better prognosis recently described entity as it is Legius syndrome. KeywordsCafe-au-lait spots Legius syndrome Neurofibromatosis type I NF1 gene RAS-MAPK pathway SPRED1 gene

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Nota Clínica

A novel neurocutaneous syndrome: Legius syndrome. A case report