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.
| Original language | English |
|---|---|
| Pages (from-to) | 211-216 |
| Number of pages | 6 |
| Journal | Child's Nervous System |
| Volume | 25 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2009 |
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Keywords
- Developmental disorders
- Infantile spasms
- Neurofibromatosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
Cite this
Neurofibromatosis type 1 and infantile spasms. / Ruggieri, Martino; Iannetti, Paola; Clementi, Maurizio; Polizzi, Agata; Incorpora, Gemma; Spalice, Alberto; Pavone, Piero; Praticó, Andrea Domenico; Elia, Maurizio; Gabriele, Anna Lia; Tenconi, Romano; Pavone, Lorenzo.
In: Child's Nervous System, Vol. 25, No. 2, 2009, p. 211-216.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Neurofibromatosis type 1 and infantile spasms
AU - Ruggieri, Martino
AU - Iannetti, Paola
AU - Clementi, Maurizio
AU - Polizzi, Agata
AU - Incorpora, Gemma
AU - Spalice, Alberto
AU - Pavone, Piero
AU - Praticó, Andrea Domenico
AU - Elia, Maurizio
AU - Gabriele, Anna Lia
AU - Tenconi, Romano
AU - Pavone, Lorenzo
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
KW - Developmental disorders
KW - Infantile spasms
KW - Neurofibromatosis
UR - http://www.scopus.com/inward/record.url?scp=58049188823&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=58049188823&partnerID=8YFLogxK
U2 - 10.1007/s00381-008-0706-5
DO - 10.1007/s00381-008-0706-5
M3 - Article
C2 - 18802710
AN - SCOPUS:58049188823
VL - 25
SP - 211
EP - 216
JO - Child's Nervous System
JF - Child's Nervous System
SN - 0256-7040
IS - 2
ER -