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Neurofibromatosis type 1 and infantile spasms

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Abstract

Background

There is no agreement on the prevalence, natural history and outcome of infantile spasms (IS) in neurofibromatosis type 1 (NF1). By contrast, its prevalence and outcome are well characterised in the setting of other neurocutaneous disorders (e.g. tuberous sclerosis).

Materials and methods

The aim of the present study was to try to establish a genotype–phenotype correlation in IS in the setting of NF1. A retrospective (years 1990–2000) and prospective (years 2000–2006) study in three paediatric centres in Italy were taken as referral populations for: (1) children with NF1 and (2) neurological problems in childhood.

Results

Ten NF1 patients have had IS. The calculated population-based: (1) prevalence of IS in NF1 (0.76%) was higher than the reported frequency of IS in the general population (0.02–0.05%) and (2) frequency of NF1 in the IS series in two out of three centres (0.62–0.90%) was lower than the estimated frequencies in the literature (1.5–3.0%). Patients had psychomotor delay preceding the spasms (50%), symmetrical spasms (50%), typical (80%) and modified (20%) hypsarrhythmia and foci of spikes and waves and a good response to corticosteroid treatment (50%). Outcome was good in 30%. Imaging revealed high-signal foci in atypical locations (sub-cortical and central brain regions). Deoxyribonucleic acid analysis revealed three novel NF1 gene mutations without genotype–phenotype correlation.

Conclusion

Even though the combination of IS and NF1 does not seem to be coincidental, it is certainly an unusual event in NF1—rarer than in other neurocutaneous disorders. Spasms in NF1 are not associated with specific genetic defects.

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Authors and Affiliations

  1. Institute of Neurological Science (ISN), National Research Council (CNR), Viale R. Margherita, 6, Catania, 95124, Italy

    Martino Ruggieri

  2. Division of Child Neurology, Department of Paediatrics, University “La Sapienza”, Rome, Italy

    Paola Iannetti & Alberto Spalice

  3. Institute of Epidemiology and Medical Genetics, Department of Paediatrics, University of Padua, Padua, Italy

    Maurizio Clementi & Romano Tenconi

  4. National Centre for Rare Diseases, Istituto Superiore di Sanitá, Rome, Italy

    Agata Polizzi

  5. Department of Paediatrics, University of Catania, Catania, Italy

    Martino Ruggieri, Gemma Incorpora, Piero Pavone, Andrea Domenico Praticò & Lorenzo Pavone

  6. Institute for Mental Retardation and Developmental Disabilities, Department of Neurology, Oasi Maria SS., Troina, Italy

    Maurizio Elia

  7. Molecular Genetics Unit, Institute of Neurological Science (ISN), National Research Council (CNR), Piano Lago di Mangone, Cosenza, Italy

    Anna Lia Gabriele

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  1. Martino Ruggieri
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Correspondence to Martino Ruggieri.

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Ruggieri, M., Iannetti, P., Clementi, M. et al. Neurofibromatosis type 1 and infantile spasms. Childs Nerv Syst 25, 211–216 (2009). https://doi.org/10.1007/s00381-008-0706-5

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  • DOI: https://doi.org/10.1007/s00381-008-0706-5

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