1- Department of Neurology, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
2- Centro de Paralisia Cerebral Calouste Gulbenkian, Lisboa.
- International Cerebral Palsy Conference, Pisa, Oct.2012 (comunicação oral).
Background: Large recent epidemiological neuroimaging studies on cerebral palsy (CP) point out 10 to 15% of normal brain MRI; these cases must be investigated for other diagnosis, as inborn errors of metabolism and/or genetic conditions.
Aim: To verify if a sample of adolescents diagnosed, in their childhood, as CP with normal brain MRI, fit in the clinical CP diagnosis following the diagnosis fluxogram of Surveillance of Cerebral Palsy in Europe (SCPE).
Methods and subjects: From a group of 100 Portuguese children born 1996-1998 and diagnosed as CP at 3 to 5 years of age (included in a multicenter European Cerebral Palsy Study), 11 had a normal brain MRI. Their clinical files were reviewed under present SCPE standards by a team of CP experts, doubtful cases were clinically reevaluated.
Results and discussion: Two cases were meanwhile diagnosed as Rett and Angelman syndromes. A third case couldn't fit in the diagnosis tree of SCPE because of persistent hypotonia. The remaining 8 adolescents maintained clinical features of CP. One must presently admit that, in a small percentage of CP cases, MRI may look normal. However these patients deserve a careful lifelong neurological follow-up to exclude very slowly progressive hereditary disorders which can masquerade as CP, an extremely important fact both for prognosis and for genetic counseling.
Keywords: cerebral palsy, neuroimaging studies.