RESUMEN
OBJECTIVE: The purpose of this case-control study is to evaluate the prevalence of occult temporal encephalomeningocele (OTE) in patients with temporal lobe epilepsy (TLE) of unknown etiology presenting to an epilepsy center, independently from drug sensitivity. METHODS: We studied 95 patients with TLE (51 female, mean age 49.4 ± 17.1 years) and 151 controls (88 female, mean age 54.1 ± 21.0 years) using a 1.5T brain MRI, including balanced steady-state gradient echo sequences, targeted to the temporal lobes. RESULTS: OTE was found in 5.2% of the TLE population (9.5% of drug-resistant TLE) and in none of the controls (p = 0.008). Two patients with OTE and drug-resistant TLE became seizure-free after lesionectomy (follow-up 18-24 months). CONCLUSION: OTE is not a rare finding in unselected patients with TLE of unknown origin, provided that it is carefully searched. The absence of OTE in a large group of nonepileptic controls adds evidence to its epileptogenic role.
Asunto(s)
Encefalocele/epidemiología , Epilepsia del Lóbulo Temporal/epidemiología , Meningocele/epidemiología , Adulto , Anciano de 80 o más Años , Encéfalo/diagnóstico por imagen , Encéfalo/cirugía , Estudios de Casos y Controles , Epilepsia Refractaria/diagnóstico por imagen , Epilepsia Refractaria/epidemiología , Epilepsia Refractaria/cirugía , Encefalocele/diagnóstico por imagen , Encefalocele/cirugía , Epilepsia del Lóbulo Temporal/diagnóstico por imagen , Epilepsia del Lóbulo Temporal/cirugía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Meningocele/diagnóstico por imagen , Meningocele/cirugía , Persona de Mediana Edad , Prevalencia , Adulto JovenRESUMEN
BACKGROUND: Primary familial brain calcification (PFBC) is a rare neurodegenerative disease characterized by bilateral calcifications mostly located in the basal ganglia and in the thalami, cerebellum and subcortical white matter. Clinical manifestations of this disease include a large spectrum of movement disorders and neuropsychiatric disturbances. PFBC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. Three causative genes have been reported: SLC20A2, PDGFRB and PDGFB. OBJECTIVE: We screened three PFBC Italian families for mutations in the SLC20A2, PDGFRB and PDGFB genes. METHODS: Phenotypic data were obtained by neurologic examination, CT scan and magnetic resonance imaging. Mutation screening of SLC20A2, PDGFRB and PDGFB was performed by sequencing. RESULTS: We identified a new heterozygous deletion c.21_21delG (p.L7Ffs*10) in SLC20A2 gene in one of these families. No mutations were detected in the other two families. CONCLUSIONS: Our data confirm that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.