Subacute sclerosing panencephalitis--the continuing threat.

Clinical, epidemiological and laboratory findings of four patients with subacute sclerosing panencephalitis (SSPE), diagnosed in Croatia in 2002, were examined. Patient age at disease onset ranged from 5-11 years. All patients were vaccinated regularly with MMR-vaccine. Two patients had a history of measles infection at the age of six and seven months, respectively. In the other two patients, the disease started immediately after the varicella infection. Complement fixing antibody titre to the measles virus (MV) ranged from 1:1024 to 1:65536 in serum, and from 1:16 to 1:128 in cerebrospinal fluid (CSF). In CSF, no antibodies to varicella-zoster virus were found. Brain tissue samples were obtained at autopsy from two patients. In one patient, electron microscopy demonstrated intranuclear viral inclusions (MV nucleocapsids). MV antigen was detected in brain imprints using IFA in both of them. Viral RNA was found in brain tissue samples only, while plasma, serum and CSF were negative. Nucleotide sequence analysis showed that the viruses detected in brain tissue belong to the wild-type MV D6 genotype.

Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.

Hyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of plasma ammonia. HI/HA syndrome is one of the more common forms of congenital hyperinsulinism (CHI), caused by activating mutations within the GLUD1 gene that encodes the mitochondrial enzyme glutamate dehydrogenase (GDH). We report here on monozygotic twin girls presented with fasting- and protein-induced hypoglycemia and mild persistent hyperammonemia. Genetic analysis revealed that both girls were heterozygous for a novel missense mutation within exon 11 [c.1499A>T, p.(R443W)] of the GLUD1 gene. Despite early treatment with diazoxide and a low protein diet, they both developed non-hypoglycemic seizures in early childhood followed by cognitive impairment. In addition to their clinical course, a review of the literature on HI/HA syndrome is provided.

[The risk of second seizure in children with benign childhood epilepsy with centrotemporal spikes without treatment--a prospective study]. / Rizik javljanja drugog napadaja u nelijecene djece s benignom parcijalnom epilepsijom s centrotemporalnim siljcima--prospektivno istrazivanje.

PURPOSE: To determine the rate of second seizure occurrence within and after six months of the first seizure in children with benign childhood epilepsy with centrotemporal spikes (BECTS) who did not undergo treatment after the first seizure. The results of this analysis may help elucidate the dilemma whether or not to treat the child after the first seizure. PATIENTS AND METHODS: Thirty-nine children with BECTS from our department (aged 3-11 years) were analyzed as candidates to be enrolled in a prospective multicenter randomized double-blind placebo controlled study on therapeutic efficacy of sulthiame. Thirty-four of 39 children were not treated after the first seizure. Four children were lost from the study, thus 30 children were included in final analysis. After the first seizure, the parents were instructed to apply diazepam rectal solution in case of second seizure, and were warned to observe the child, particularly during the first sleep and before awaking. RESULTS: Twenty of 30 (66.6%) children experienced second seizure within six months of the first one. Some of these children entered the group treated with sulthiame vs. placebo, and those who did not meet the criteria for sulthiame group were treated with carbamazepine. Ten of 30 (33.4%) children did not experience second seizure within six months of the first one. In only one of them, the second seizure occurred 14 months of the first one. The epileptic status did not appear as second seizure, irrespective of whether or not the children received rectal diazepam at seizure onset. CONCLUSIONS: In children with BECTS, a high incidence of second seizure was recorded within six months of the first seizure, whereas the rate of second seizure after six months of the first one was very low. The probability of the occurrence of epileptic status in children with BECTS could be neglected. These results may be viewed as a small contribution to clarifying the dilemma of whether or not, and when to treat children with BECTS. Because of the high incidence of second seizure, we decided to treat all children with BECTS after the first seizure.

Subacute sclerosing panencephalitis in Croatia (1994-2004).

We studied five patients with SSPE during a 10-year period (1994-2004). The first clinical symptoms developed at the age of 5-11 years. All patients were vaccinated regularly against measles according to the official immunization schedule. One patient had measles at the age of 18 months. Two of them had a history of morbilliform rash (unrecognized measles) at the age of six and seven months, respectively. In two patients, with no history of measles before vaccination the disease started after varicella infection. Using complement-fixation (F) test and EIA, antibodies to measles virus (MV) were detected in the CSF and sera of all patients. The CF-antibody titers ranged from 1:1024 to 1:65536 in sera and from 1:16 to 1:128 in CSF samples. MV antigen was detected in brain imprints using IFA in two patients. Electron microscopic analysis revealed intranuclear viral inclusions (MV nucleocapsids). Using RT-PCR, viral RNA was found in both patients. Nucleotide sequence analysis showed that the viruses found in the brain tissue belonged to the wild-type MV D6 genotype [7].