Nota Clínica

X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome

A. Muñoz, J.C. Cabrera-López, A. Santana-Rodríguez, L. Toledo-Bravo de Laguna, A. Santana-Artiles, I. Sebastián-García [REV NEUROL 2016;62:218-222] PMID: 26916325 DOI: https://doi.org/10.33588/rn.6205.2015380

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Volumen 62 | Number 05 | Nº of views of the article 17.428 | Nº of PDF downloads 365 | Article publication date 01/03/2016

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ABSTRACT

INTRODUCTION Hereditary spastic paraplegia (HSP) is a set of neurodegenerative clinical features characterised by a progressive loss of strength in the lower limbs together with spasticity. It is the result of an axonal lesion in the corticospinal tracts. Type 1, known as SPG1, is the most common form of X-linked HSP. This is produced by a mutation in the gene for the L1 cell adhesion molecule (L1CAM). SPG1 presents with CRASH syndrome (corpus callosum hypoplasia, retardation, adducted thumbs, spasticity and hydrocephalus). CASE REPORTS. We report the cases of three males, two brothers and a cousin (on the mother’s side), with clinical features including intellectual disability, spastic paraparesis, long tract signs, facial dysmorphism and adducted thumbs. Neuroimaging revealed agenesis of the corpus callosum and ventriculomegaly in all three of them. Neurophysiological and metabolic studies were normal. The genetic study evidenced a specific mutation of the L1CAM gene (Xq28) in all three cases. CONCLUSION. We describe the clinical-radiological findings in three males with CRASH syndrome due to mutation c.516G>A in exon 5 of the L1CAM gene. These seem to be the first cases reported in Spain, according to the current literature. We recommend suspecting this syndrome when spastic paraparesis, intellectual disability and adducted thumbs are associated. KeywordsAdducted thumbs Agenesis of the corpus callosum CRASH syndrome Hereditary spastic paraplegia L1 syndrome L1CAM SPG1

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Nota Clínica

X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome