Arterial spin labelling qualitative assessment in paediatric patients with MRI-negative epilepsy.

AIM: To evaluate the usefulness of arterial spin labelling (ASL) qualitative analysis for the localisation of seizure-related perfusion abnormalities in paediatric patients with negative brain magnetic resonance imaging (MRI) epilepsy. MATERIALS AND METHODS: Forty-two patients with a diagnosis of MRI-negative focal or generalised epilepsy, who underwent electroencephalogram (EEG) and MRI with ASL in the interictal phase were included. Perfusion abnormalities were evaluated through a qualitative assessment and then compared to EEG seizure focus. RESULTS: Among the 42 patients, 26 had focal epilepsy and 16 had generalised epilepsy. Thirty-three patients (79%) showed a perfusion abnormality, mainly hypoperfusion (74.5% of all ASL alterations), whereas hyperperfused alterations were more represented in patients who experienced the last seizure either less than 48 hours prior to ASL acquisition or in the time interval from 1 week to 1 month prior to ASL acquisition (p=0.034). Concordance of ASL abnormality and EEG focus was found in 33 patients (78.5%), as complete in 17 (40.5%) and as partial in 16 (38%). A trend of higher concordance was found in focal epilepsies compared to generalised epilepsies (p=0.059). The concordance between ASL and EEG major alterations was higher for hyperperfused anomalies than for hypoperfused ones (p=0.009). Variables such as age, sedation, and time from last seizure were not significant contributors for concordance. CONCLUSIONS: The combined use of qualitative ASL and brain MRI and scalp EEG could be a potential tool in daily clinical practice.

Atypical Manifestations in Glut1 Deficiency Syndrome.

Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis.