Four siblings with Hallervorden-Spatz disease.

We reported four cases of Hallervorden-Spatz disease. All four siblings (three males and one female) in the family are affected. The first symptoms of the disease were spastic paraparesis and optic atrophy followed by trunkal dystonia and lower motor neurone involvement. The average age of the onset was 4.25 years. The diagnosis was made at the ages of 17, 14, 11 and 10 years. The diagnosis was confirmed clinically, electrophysiologically and by MRI. On MRI scans all patients demonstrated hypointense areas in globus pallidus. There is neither specific treatment nor prenatal diagnosis.

Neurocognitive development of children with congenital unilateral brain lesion and epilepsy.

The aim of this study was to specify the neuropsychological deficits characteristic of children with unilateral non-progressive brain lesion. In order to assess these specific functions, we used a comprehensive model of congenital hemiparesis with partial epilepsy and newly diagnosed partial epilepsy without hemiparesis. The neuropsychological examination was performed using the NEPSY test battery on 44 children aged from 4 to 9 years. The children were divided into three groups: 18 children suffering from congenital hemiparesis with chronic partial epilepsy, 12 children with newly diagnosed partial epilepsy prior to anti-epileptic treatment, and 14 healthy controls matched by sex, age, and socioeconomic status. Children with congenital hemiparesis and epilepsy had a more clearly expressed cognitive dysfunction, especially in language, visuo-perceptual and memory tasks, than children with newly diagnosed partial epilepsy. The profile of cognitive weakness appears to be diffuse and quite similar in both groups, and it did not demonstrate a clear effect of lateralization, according to the side of epileptic electroencephalogram discharges. Children within both groups are likely to have a high risk of developing attention, phonological, visuo-perceptual, and memory deficits in their life. Especially interesting and surprising was the fact that the newly diagnosed epilepsy group demonstrated impairment not only in attention, visuo-perceptual and short-term memory skills, but also in auditory perception, lexical function, and the comprehension of speech. Therefore, it is recommended that children with epilepsy would undergo neuropsychological examination in order to assess their cognitive abilities.

Duchenne and Becker muscular dystrophies: an Estonian experience.

The clinical and molecular features of 25 Duchenne (DMD), two intermediate (D/BMD) and three Becker (BMD) muscular dystrophy patients from 26 unrelated families were evaluated. Early psychomotor development was normal in patients with D/BMD and BMD. Learning to walk independently after 15 months of age was a risk sign of DMD in nine (36%) patients. Abnormality in crawling was seen in 13 (54%) patients with DMD. These boys demonstrated initial symptoms earlier than those who learned to crawl normally. Mental retardation was established in five (20%) patients with DMD. Deletions in the dystrophin gene were found in 11 families (48%). They were accumulated (9/11, 82%) in the distal region of the gene.

Prevalence of childhood epilepsy in Estonia.

PURPOSE: To establish the prevalence rate (PR) and main characteristics of childhood epilepsy in Estonia. METHODS: We performed a population-based case ascertainment of all the possible sources of medical care in seven counties of Estonia from January 1995 to December 1997. Only cases of patients from 1 month to 19 years of age with active epilepsy (i.e., at least one seizure during the last 5 years, regardless of treatment) were included. All patients were examined by a pediatric neurologist. RESULTS: Five hundred sixty cases met the study criteria on the prevalence day, December 31, 1997. The total PR was 3.6 per 1,000 population (boy/girl ratio, 1.2:1.0). The PR was the highest-4.3 per 1,000-in the 5-to-9-year-old age group. The prevalence declined markedly in children age 14 years and on. The correlation between age and PR was negative (-0.542, p < 0.0001) by regression analyses. The most frequent seizure types in the total group were primarily generalized seizures-PR 2. 1/1,000 [rate ratio (RR) 1.4, 95% confidence interval (CI) 1.2, 1.6]. The predominance of generalized seizures was significant in those younger than 10 years. In 14.8% of cases, there was a history of epilepsy among first- and second-degree relatives. Benign rolandic epilepsy-PR 0.2/1,000-was the most frequent among idiopathic syndromes, and Lennox-Gastaut syndrome-PR 0.08/1,000-was the most frequent among cryptogenic ones. Perinatal factors-PR 0.8/1,000 were the most frequently found cause of epilepsy. In 304 cases (54.2%), additional medical problems existed. CONCLUSIONS: The prevalence of childhood epilepsy was comparable with that found in developed countries. Generalized seizures predominated, and the main cause was perinatal factors.

Incidence of childhood epilepsy in Estonia.

The aim of this study has been to establish the incidence rate (IR) and main characteristics of childhood epilepsy in Estonia. A population-based prospective study was performed from January 1st 1995 to December 31st 1997 in seven counties (population of children 161202). Only cases occurring in the age range of 1 month to 19 years with active epilepsy were included. Two hundred and sixteen cases met the study criteria. The total age-adjusted IR was 45/100000. The IR was the highest, 73/100000, in the age group from 1 month to 4 years. The IR declined markedly after the age of 15 years. Primarily generalized seizures demonstrated a higher IR, 25/100000, than partial seizures, the IR of which was 20/100000. The IR of symptomatic epileptic syndromes was 16/100000, that of cryptogenic, 15.5/100000 and that of idiopathic, 13/100000. The cumulative incidence of epilepsy through age 19 was 0.13%. A family history of epilepsy was present in 13.9% of cases. In 40.7% of cases the cause of epilepsy was identified. Adverse perinatal events were the most frequent etiological factors: in 25%, IR 11/100000. In 103 cases (47.6%) additional medical problems were disclosed. Strong negative univariate association was noted between partial seizures and idiopathic etiology (OR 0.37, 95%CI 0.18, 0.72; P = 0.002) and between partial seizures and motor disability (OR 0.43, 95%CI 0.24, 0.78; P = 0.003). The incidence of childhood epilepsy in Estonia was comparable with developed countries. Generalized seizures predominated. Perinatal factors were the main causes. The idiopathic etiology and motor disability of cryptogenic and symptomatic cases were associated with generalized seizures.