Neuroimaging Features of Biotinidase Deficiency.

Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the BTD gene. Resultant deficiency of free biotin leads to impaired activity of the enzyme carboxylase and related neurologic, dermatologic, and ocular symptoms. Many of these are reversible on treatment, but early recognition and commencement of biotin supplementation are critical. This practice is especially important in countries where routine neonatal screening for biotinidase deficiency is not performed. In this report comprising 14 patients from multiple centers, we demonstrate the MR imaging patterns of this disorder at various age groups. Knowledge of these patterns in the appropriate clinical context will help guide early diagnosis of this treatable metabolic disorder.

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

PURPOSE: To evaluate the efficacy and tolerability of Perampanel (PER) in children and adolescents with refractory epilepsies in daily clinical practice conditions. PATIENTS AND METHODS: This Italian multicenter retrospective observational study was performed in 16 paediatric epilepsy centres. Inclusion criteria were: (i) ≤18 years of age, (ii) history of refractory epilepsy, (iii) a follow-up ≥5 months of PER add-on therapy. Exclusion criteria were: (i) a diagnosis of primary idiopathic generalized epilepsy, (ii) variation of concomitant AEDs during the previous 4 weeks. Response was defined as a ≥50% reduction in monthly seizure frequency compared with the baseline. RESULTS: 62 patients suffering from various refractory epilepsies were included in this study: 53% were males, the mean age was 14.2 years (range 6-18 years), 8 patients aged <12 years. Mean age at epilepsy onset was 3.4 years and the mean duration of epilepsy was 10.8 years (range 1-16), which ranged from 2 seizures per-month up to several seizures per-day (mean number=96.5). Symptomatic focal epilepsy was reported in 62.9% of cases. Mean number of AEDs used in the past was 7.1; mean number of concomitant AEDs was 2.48, with carbamazepine used in 43.5% of patients. Mean PER daily dose was 7.1mg (2-12mg). After an average of 6.6 months of follow-up (5-13 months), the retention rate was 77.4% (48/62). The response rate was 50%; 16% of patients achieved ≥75% seizure frequency reduction and 5% became completely seizure free. Seizure aggravation was observed in 9.7% of patients. Adverse events were reported in 19 patients (30.6%) and led to PER discontinuation in 4 patients (6.5%). The most common adverse events were behaviour disturbance (irritability and aggressiveness), dizziness, sedation and fatigue. CONCLUSION: PER was found to be a safe and effective treatment when used as adjunctive therapy in paediatric patients with uncontrolled epilepsy.

[Neurologic emergency in children's hospital. Stroke]. / Emergenza neurologica in pediatria: lo stroke.

AIM: The results may be related to the relative delay in diagnosis and thus in treatment. The authors hope that their paper will help make physicians who work in emergency rooms more aware of the increase in stroke in children. METHODS AND RESULTS: The study a departmental study in the Children's Hospital, carried out at the Giannina Gasslini Children's Hospital of Genoa, Italy. The authors report on 23 children with stroke who were admitted at onset to the pediatric emergency department. The incidence of patients with stroke at the Institute between 2001 and 2005, was 0.8% among neurology patients and 0.02% among all pediatric patients. This incidence would appear to be lower than the rates reported in the literature. This is most likely due to the fact that patients who presented at the Emergency Department at onset of the stroke were not taken in consideration. In the last few years, children with stroke have been treated empirically by anticoagulant or antiplatelet therapy. Patients with sickle cell disease, with venous stroke, or with heart disease are all treated in a rather homogeneous manner. CONCLUSIONS: These cases represent the different types of presentation of stroke in children and also clearly display the different therapeutic strategies that have been applied. In fact, the patients were treated on the basis of an individual protocol which was decided case by case but a critical review of these cases establishes a necessary multidisciplinary protocol.