Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous scler... more Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB). Considering the high risk of treatment-induced malignancies, a tailored therapy, omitting radiation, was given. Based on the evidence of mammalian target of rapamycin mTORC, mTOR Complex; RAS, Rat sarcoma; RAF, rapidly accelerated fibrosarcoma (mTOR) pathway activation in the tumor, targeted therapy was applied resulting in complete remission of disease. Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. We speculate that a different pathway resulting in mTOR activation is the basis of both TSC and MB in this child; H&E, haematoxilin and eosin; Gd, gadolinium.
Epileptic disorders : international epilepsy journal with videotape, Jan 19, 2015
Peri-ictal water drinking (PIWD) has been reported as the action of drinking during or within two... more Peri-ictal water drinking (PIWD) has been reported as the action of drinking during or within two minutes of an electroclinical seizure. It is considered a peri-ictal vegetative symptom, evident both during childhood and adulthood epilepsy. The aim of this paper was to describe the clinical and electroencephalographic features of two new adult subjects suffering from symptomatic temporal lobe epilepsy with episodes of PIWD recorded by VIDEO-EEG and to review literature data in order to better define this peculiar event during seizures, a rare and probably underestimated semiological sign. To date, 51 cases with focal epilepsy and seizures associated with PIWD have been reported. All patients presented with temporal lobe epilepsy. All cases but one had symptomatic epilepsy. Most of the patients had an involvement of the right hemisphere. Water drinking was reported as an ictal sign in the majority of patients, and less frequently was reported as postictal. We believe that PIWD might ...
... Bombardieri R, Pinci M, Moavero R, Cerminara C, Curatolo P. Early control of seizures improv... more ... Bombardieri R, Pinci M, Moavero R, Cerminara C, Curatolo P. Early control of seizures improves long-term outcome in children with tuberous sclerosis ... Future Medicine Ltd, Unitec House, 2 Albert Place, London, N3 1QB, UK Business Office: Tel +44 (0)20 8371 6080 · Fax +44 ...
Epilepsy associated with tuberous sclerosis complex (TSC) is characterized by early onset and int... more Epilepsy associated with tuberous sclerosis complex (TSC) is characterized by early onset and intractable seizures in the majority of children. There is a solid evidence of clinical efficacy of vigabatrin in interrupting infantile spasms associated with TSC. Due to an early diagnosis we were able to start vigabatrin at the very early onset of seizures in 10 children, who subsequently underwent a long-term neurodevelopmental follow-up. At the final evaluation, a seizure free status was achieved in 50% of patients; 30% of individuals had a normal or borderline mental development, with no patients developing severe mental retardation and/or autism. Early control of seizures has a crucial role in preventing subsequent epileptic encephalopathy, and in reducing the cognitive/behavioural consequences of seizures, but does not guarantee for a normal mental outcome in children with TSC.
Rufinamide is a new antiepileptic drug approved as add-on treatment in Lennox-Gastaut syndrome fr... more Rufinamide is a new antiepileptic drug approved as add-on treatment in Lennox-Gastaut syndrome from the age of 4 years, and for the treatment of focal seizures in adults and adolescents. The aim of this prospective study was to evaluate the safety and efficacy of add-on Rufinamide in the treatment of childhood focal drug resistant epilepsy. We recruited 70 patients for a prospective, add-on, open-label study. Inclusion criteria were: 3 years of age or more; focal drug resistant epilepsy despite the use of three previous AEDs; use of at least one other AED, but no more than three at baseline; more than one seizure per month in the previous 6 months. Rufinamide efficacy was observed up to 12 months of follow-up, with a total responder rate of 38.57%. We found the best results in focal epilepsies due to structural/metabolic etiology (42.6%). The responder rate was similar for focal seizures with secondary generalization, simple focal seizures other than myoclonic jerks, and complex partial seizures. Response to Rufinamide was not related to the age. Our experience suggests that Rufinamide can be effective in reducing focal seizure frequency in children with drug resistant epilepsy, and that it can be considered as a safe drug.
Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous scler... more Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB). Considering the high risk of treatment-induced malignancies, a tailored therapy, omitting radiation, was given. Based on the evidence of mammalian target of rapamycin mTORC, mTOR Complex; RAS, Rat sarcoma; RAF, rapidly accelerated fibrosarcoma (mTOR) pathway activation in the tumor, targeted therapy was applied resulting in complete remission of disease. Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. We speculate that a different pathway resulting in mTOR activation is the basis of both TSC and MB in this child; H&E, haematoxilin and eosin; Gd, gadolinium.
Epileptic disorders : international epilepsy journal with videotape, Jan 19, 2015
Peri-ictal water drinking (PIWD) has been reported as the action of drinking during or within two... more Peri-ictal water drinking (PIWD) has been reported as the action of drinking during or within two minutes of an electroclinical seizure. It is considered a peri-ictal vegetative symptom, evident both during childhood and adulthood epilepsy. The aim of this paper was to describe the clinical and electroencephalographic features of two new adult subjects suffering from symptomatic temporal lobe epilepsy with episodes of PIWD recorded by VIDEO-EEG and to review literature data in order to better define this peculiar event during seizures, a rare and probably underestimated semiological sign. To date, 51 cases with focal epilepsy and seizures associated with PIWD have been reported. All patients presented with temporal lobe epilepsy. All cases but one had symptomatic epilepsy. Most of the patients had an involvement of the right hemisphere. Water drinking was reported as an ictal sign in the majority of patients, and less frequently was reported as postictal. We believe that PIWD might ...
... Bombardieri R, Pinci M, Moavero R, Cerminara C, Curatolo P. Early control of seizures improv... more ... Bombardieri R, Pinci M, Moavero R, Cerminara C, Curatolo P. Early control of seizures improves long-term outcome in children with tuberous sclerosis ... Future Medicine Ltd, Unitec House, 2 Albert Place, London, N3 1QB, UK Business Office: Tel +44 (0)20 8371 6080 · Fax +44 ...
Epilepsy associated with tuberous sclerosis complex (TSC) is characterized by early onset and int... more Epilepsy associated with tuberous sclerosis complex (TSC) is characterized by early onset and intractable seizures in the majority of children. There is a solid evidence of clinical efficacy of vigabatrin in interrupting infantile spasms associated with TSC. Due to an early diagnosis we were able to start vigabatrin at the very early onset of seizures in 10 children, who subsequently underwent a long-term neurodevelopmental follow-up. At the final evaluation, a seizure free status was achieved in 50% of patients; 30% of individuals had a normal or borderline mental development, with no patients developing severe mental retardation and/or autism. Early control of seizures has a crucial role in preventing subsequent epileptic encephalopathy, and in reducing the cognitive/behavioural consequences of seizures, but does not guarantee for a normal mental outcome in children with TSC.
Rufinamide is a new antiepileptic drug approved as add-on treatment in Lennox-Gastaut syndrome fr... more Rufinamide is a new antiepileptic drug approved as add-on treatment in Lennox-Gastaut syndrome from the age of 4 years, and for the treatment of focal seizures in adults and adolescents. The aim of this prospective study was to evaluate the safety and efficacy of add-on Rufinamide in the treatment of childhood focal drug resistant epilepsy. We recruited 70 patients for a prospective, add-on, open-label study. Inclusion criteria were: 3 years of age or more; focal drug resistant epilepsy despite the use of three previous AEDs; use of at least one other AED, but no more than three at baseline; more than one seizure per month in the previous 6 months. Rufinamide efficacy was observed up to 12 months of follow-up, with a total responder rate of 38.57%. We found the best results in focal epilepsies due to structural/metabolic etiology (42.6%). The responder rate was similar for focal seizures with secondary generalization, simple focal seizures other than myoclonic jerks, and complex partial seizures. Response to Rufinamide was not related to the age. Our experience suggests that Rufinamide can be effective in reducing focal seizure frequency in children with drug resistant epilepsy, and that it can be considered as a safe drug.
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Papers by Romina Moavero