Abstract | INTRODUCTION: 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.
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Authors | Mercedes Cemeli-Cano, José Luis Peña-Segura, Ruth Fernando-Martínez, Silvia Izquierdo-Álvarez, Lorena Monge-Galindo, Javier López-Pisón |
Journal | Revista de neurologia
(Rev Neurol)
Vol. 59
Issue 5
Pg. 209-12
(Sep 01 2014)
ISSN: 1576-6578 [Electronic] Spain |
Vernacular Title | Un nuevo síndrome neurocutáneo: síndrome de Legius. A propósito de un caso. |
PMID | 25156025
(Publication Type: Case Reports, English Abstract, Journal Article)
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Topics |
- Cafe-au-Lait Spots
(diagnosis)
- Humans
- Infant
- Male
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