Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication.

BACKGROUND AND PURPOSE: Our aim was to describe the clinical and electrical features and the long-term evolution of childhood occipital epilepsy of Gastaut (COE-G) in a cohort of patients and to compare long-term prognosis between patients with and without other epileptic syndromes. METHODS: This was a retrospective analysis of the long-term outcome of epilepsy in 129 patients with COE-G who were referred to 23 Italian epilepsy centres and one in Austria between 1991 and 2004. Patients were evaluated clinically and with electroencephalograms for 10.1-23.0 years. The following clinical characteristics were evaluated: gender, patient age at seizure onset, history of febrile seizures and migraine, family history of epilepsy, duration and seizure manifestations, circadian distribution and frequency of seizures, history of medications including the number of drugs, therapeutic response and final outcome. RESULTS: Visual hallucinations were the first symptom in 62% and the only manifestation in 38.8% of patients. Patients were subdivided into two groups: group A with isolated COE-G; group B with other epileptic syndromes associated with COE-G. The most significant (P < 0.05) difference concerned antiepileptic therapy: in group A, 45 children responded to monotherapy; in group B only 15 children responded to monotherapy. At the end of follow-up, the percentage of seizure-free patients was significantly higher in group A than in group B. CONCLUSIONS: Childhood occipital epilepsy of Gastaut has an overall favourable prognosis and a good response to antiepileptic therapy with resolution of seizures and of electroencephalogram abnormalities. The association of typical COE-G symptoms with other types of seizure could be related to a poor epilepsy outcome.

Association of syndromic mental retardation and autism with 22q11.2 duplication.

We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is very heterogeneous, with high variability also in the familiar cases. Up till now, about 50 cases of 22q11.2 duplication have been reported, but only three of them are associated with autistic disorders. We propose that in addition to 22q13.3 deletion syndrome, also 22q11.2 duplication should be suspected in a patient with unspecified dysmorphisms, mental retardation, autism, hypotonia, and severe speech delay.

Management of epilepsy in tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an inherited disorder resulting from mutations in one of two genes, TSC1 (Hamartin) and TSC2 (Tuberin). These two proteins form a cytosolic complex that inhibits the mTOR pathway that controls cell growth and proliferation. Pathologically, abnormalities of neuronal migration, cellular differentiation and excessive cellular proliferation all contribute to the formation of the different brain lesions of TSC. Seizure is the most common presenting symptom. Seizures can be present in the first year of life and up to one third of children develop infantile spasms. Seizures usually have a focal or multifocal origin, are often resistant to antiepileptic drugs and have a negative impact on the neurocognitive development. Vigabatrin has proved to be effective against infantile spasms due to TSC. New evidence suggests that it is possible to noninvasively identify using multimodality techniques, TSC children who are likely to become seizure-free following surgical treatment. Understanding the mechanisms of epileptogenesis and the possible role of the mTOR pathway in this process might increase the availability of novel and targeted therapies.

Genetic polymorphism and idiopathic generalized epilepsy. Evidence of interaction between haptoglobin and ACP1 systems.

We have investigated possible interactions between ACP1 and Hp concerning their effects on the susceptibility to convulsive disorders. 129 children with idiopathic generalized epilepsy with tonic clonic seizures (IGE) and 127 controls were studied in the population of Rome. There is a significant interaction between Hp and ACP1 concerning their effects on epilepsy. The association of Hp with epilepsy depends on the ACP1 genotypes. In carriers of the *B/*B genotype of ACP1 the risk of epilepsy is much lower in Hp *1/*1 children than in other Hp types. This is not observed in carriers of other ACP1 types.The present data suggest an epistatic action of ACP1 concerning the effect of Hp on the susceptibility to convulsive disorders.

Allergy and childhood epilepsy: a close relationship?

OBJECTIVES: The possibility that certain foods or allergens may induce convulsions has already been reported in the literature. None of the relevant studies has, however, shown a close correlation between allergy and epilepsy, most reports being anecdotal and open to various causal hypotheses. The case-control study reported here was undertaken to test the hypothesis that epilepsy is linked to allergy. MATERIAL AND METHODS: Seventy-two epileptic children and a group of 202 controls in the same age bracket were investigated for allergy together with their immediate families. RESULTS: The study revealed significantly higher rates of eczema in the mothers and rhinitis in the siblings of the patients studied as well as generally higher incidence of allergic pathologies in both of these groups with respect to the relevant controls. A significantly higher incidence of allergy to cow's milk and asthma was also documented in the epileptic children with respect to the control group. Prick tests gave a significantly higher rate of positive results for cow's milk proteins in the cases examined with respect to the controls. The total serum IgE of a random sample of cases and controls showed no difference in mean values. CONCLUSION: The study appears to bear out the hypothesis of a higher incidence of allergy in the children with epilepsy and their immediate families than in the controls and their families.

Partial cryptogenetic epilepsy and food allergy/intolerance. A causal or a chance relationship? Reflections on three clinical cases.

The possibility that certain foods or allergens may induce convulsions has already been reported in the literature. None of these studies has, however, shown a close correlation between food allergy and epilepsy, most reports being anecdotal and open to various aetiological hypotheses. The present report concerns 3 children with cryptogenetic partial epilepsy, diagnosed by means of electroencephalography, with behavioural disorders (hyperactivity, sleep disorders and writing difficulties). In these patients, instead of using anticonvulsive agents, treatment was based upon a cows milk-free diet, working on the hypothesis that there could be a casual relationship between intolerance to this food item and the epileptic symptoms. An improvement was observed in the children's behaviour and moreover, the electroencephalographic anomalies disappeared. Upon double blind oral provocation tests, these patients did not present an immediate reaction, but only after a few days. starting the controlled diet again led, in all cases, to disappearance of the electroencephalogram. In conclusion, it would appear feasible to hypothesize the role of food intolerance in the onset of convulsive crises, even if limited to certain types of epilepsy such as the cryptogenetic partial form.