Serum antibodies from epileptic patients react, at high prevalence, with simian virus 40 mimotopes.

BACKGROUND AND PURPOSE: It has been demonstrated that inflammation may contribute to epileptogenesis and cause neuronal injury in epilepsy. In this study, the prevalence of antibodies to simian virus 40 (SV40), a kidney and neurotropic polyomavirus, was investigated in serum samples from 88 epileptic children/adolescents/young adults. METHODS: Serum antibodies reacting to specific SV40 peptides were analysed by indirect enzyme-linked immunosorbent assay. Synthetic peptides corresponding to the epitopes of viral capsid proteins 1-3 were used as SV40 antigens. RESULTS: A significantly higher prevalence of antibodies against SV40 was detected in sera from epileptic patients compared to controls (41% vs. 19%). Specifically, the highest significant difference was revealed in the cohort of patients from 1.1 to 10 years old (54% vs. 21%), with a peak in the sub-cohort of 3.1-6 years old (65% vs. 18%). CONCLUSION: Our immunological data suggest a strong association between epilepsy and the SV40 infection.

Laser treatment of angiofibromas in tuberous sclerosis.

Tuberous sclerosis complex is an autosomal dominant disorder that can cause nonmalignant hamartomas in any organ. Angiofibromas are the most disturbing marker of the disease because they are conspicuously present on the face. We report the case of a 15-year-old girl affected by tuberous sclerosis, whose facial angiofibromas were satisfactorily treated by a green light vascular laser (532 nm).

Incidence of childhood and adolescence epilepsy: a community-based prospective study in the province of Ferrara and in Copparo, Italy, 1996-2005.

BACKGROUND: The annual incidence of childhood and adolescence epilepsy ranges from 41 to 97 diagnoses per 100,000 people in western Countries, with a reported decline over time. We aimed at studying the incidence of epilepsy in children and adolescents (1 month to 14 years) and its temporal trend in the province of Ferrara, northern Italy. METHODS: We implemented a community-based prospective multi-source registry. All children with newly diagnosed epilepsy in the period 1996-2005 were recorded. RESULTS: The incidence rate of newly diagnosed epilepsy in the considered age range was 57 per 100,000 person-years, (95% CI: 49.3-65.9), with a peak in the first year of life (109.4; 95% CI: 69.4-164.1), without differences between the two gender. The estimates were significantly lower than those observed previously (97.3; 95% CI: 81.9-115.7). CONCLUSIONS: Incidence rates for epilepsy in the Italian population aged 1 month to 14 years are in line with those of other European and Northern American Countries. The incidence of childhood epilepsy has declined over time in our area. A reduced impact of serious perinatal adverse events could partly explain the decline.

MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up.

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by progressive cerebellar atrophy. Prior to the discovery of mutations in the PLA2G6 gene in family with INAD, the clinical diagnosis of the disease had been confirmed by the presence of spheroid bodies (SB) in a peripheral nerve biopsy. Various studies have found that some patients with mutations lacked SB and some without mutations had SB, indicating incomplete detection using either pathologic or molecular methods (7). This, together with the observation that the spectrum of clinical features associated with mutations in PLA2G6 is broader than previously described, has increased the usefulness of Magnetic Resonance (MR) in INAD diagnosis, particularly in the frequent occurrence of atypical cases, especially in the early stages of the disease. We retrospectively reviewed the MR studies of eight patients in whom clinical and imaging onset met the typical criteria for INAD. Their clinical and MR imaging (MRI) onset and follow-up were evaluated together with the neuroradiological findings reported in the literature in order to identify MRI features useful in differentiating INAD from other diseases with similar clinical onset and to discuss which of them are the most important, thus suggesting INAD diagnosis. Our contribution included the use of Proton Spectroscopy ((1)H-MR), diffusion weighted MR imaging (DWI) and diffusion tensor imaging (DTI) in the follow-up of seven of the eight patients. The literature reviewed included attempts to correlate clinical and MR data with the genotype in the group of patients carrying PLA2G6 mutations. From the limited and inhomogeneous cohort of patients included in our study, a correlation between the MR features, phenotype and genotype was not exhaustive.

EEG evaluation in children and adolescents with chronic headaches.

UNLABELLED: In order to establish the usefulness of EEGs for the diagnosis of headache in children and adolescents, we retrospectively reviewed the records of 425 patients referred to our Paediatric Neurology Service because of recurrent headache. EEG was recorded ictally in 40 patients and interictally in 412 subjects. CONCLUSION: Our results confirm that the EEG is a very helpful tool, particularly in migraine with aura during the ictal phase, because it shows transient abnormalities that may support the diagnosis of this form of headache. On the contrary the EEG performed during the interictal phase is most often normal or it shows aspecific abnormalities with no relationship with to features.

Familial Sotos syndrome: longitudinal study of two additional cases.

We describe two siblings with Sotos syndrome, probably inherited from their father. The diagnosis was made early in both children, who presented psychomotor delay from early on as well as a strikingly similar phenotype (macrocrania, coarse face, accelerated growth). The prolonged follow-up of both children shows severe but non progressive motor and language developmental delay, followed by improvement with age in the girl. This improvement is also expected for the boy, who shows identical development. The expressive language delay present in both children may be explained by oral apraxia rather than mental handicap. The progressive motor and mental improvement, which can occasionally reach normal level in adults, and the tendency toward phenotypic normalization could explain the difficulty in making a definite diagnosis in adults and thus in defining the pattern of inheritance.

Uncommon EEG pattern in an 8-year-old boy with recurrent migraine aura without headache.

A case of an 8-year-old boy with recurrent migraine auras without headache, precipitated by minor head trauma, is reported. Aura was characterized, besides other brain-stem signs, by confusional state. An uncommon electroencephalographic pattern recorded during the episodes, characterized by diffuse continuous beta activity, is described. Recognition of this finding may prevent an inappropriate diagnosis of drugs ingestion.

Pitfalls in scintigraphic detection of neuroendocrine tumours.

We report 4 cases of abnormal results using iodine-123 metaiodobenzylguanidine (123I-mIBG) or technetium-99m (V) dimercaptosuccinic acid (99mTc(V)-DMSA) scintigraphy in the diagnosis and follow-up of presumed neuroendocrine tumours. The present series consisted of 2 false-positive cases (1 adenomatous polyp of the caecum with mIBG and 1 follicular adenoma of the thyroid with DMSA) and 2 cases of anomalous uptake of (V)-DMSA in a non-neuroendocrine tissue.