Neuropsychological evaluation and follow-up of children with cerebellar cortical dysplasia.

Aim: To describe neuropsychological disturbances and the developmental course associated with cerebellar cortical dysplasia (CCD).

Method: The neuroimaging findings from 10 children (five males, five females; aged 3-10 y) with CCD were reviewed and classified. These children all underwent clinical neurological examination and neuropsychological assessment (NPA) on admission, then were followed for an average of 6 years using the cognitive Wechsler Scale, Vineland Adaptive Behavior Scales, and Rey-Osterrieth Complex Figure/McCarthy Drawing subtests.

Brain regional glucose uptake changes in isolated cerebellar cortical dysplasia: qualitative assessment using coregistrated FDG-PET/MRI.

We aimed to assess brain regional glucose uptake (rGlcU) changes in children with isolated cerebellar cortical dysplasia (CCD) using 18-fluoro-deoxy-glucose positron emission tomography (FDG-PET). Six children aged 9 months to 11 years at the time of diagnosis, carrying isolated CCD (with no other associated posterior fossa or supratentorial malformation) underwent a brain FDG-PET and a subsequent 3DT1-weighted MRI for coregistration. The MRIs acquired previously at the time of diagnosis were reviewed to record the cerebellar dysplastic features and classify the patients as having minor, moderate, or severe CCD.

Infantile epileptic encephalopathy with late-onset spasms: report of 19 patients.

Purpose: Late-onset spasms (LOS) are epileptic spasms starting after the first year of life. Our aim was to assess the electroclinical features and the follow-up of the patients with this particular type of epileptic seizure.

Methods: We retrospectively included all patients with LOS confirmed by electroencephalography between 1989 and 2008.

Levetiracetam-induced depression in a 5-year-old child with partial epilepsy.

Depression in children and adolescents with epilepsy is common. Depression worsen quality of life in epilepsy patients. Neurobiological, social, and iatrogenic factors may play a role in depressive disorder development.

Benign myoclonic epilepsy in infants: electroclinical features and long-term follow-up of 34 patients.

Purpose: Benign myoclonic epilepsy in infants (BMEI) is a rare epileptic syndrome characterized only by generalized myoclonic seizures (MSs) in normal children during the first 2 years. Our aim was to assess the electroclinical features and the follow-up of this syndrome.

Methods: BMEI was confirmed by electroencephalogram (EEG) in four neuropediatric units in France between 1981 and 2002.

Hot water epilepsy occurring at temperature below the core temperature.

A 6-year-old girl had water reflex epilepsy occurring at lower temperature than the core temperature. Seizures episodes consisted of a loss of consciousness absence followed by left predominant hypotonia with right fronto-temporal high voltage slow waves on the ictal-EEG. Seizures were only observed when the water was poured on scalp or face.

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

In the course of a mutation search performed by muscle dystrophin transcript analysis in 72 Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene defect, we encountered four unrelated cases with additional out-of-frame sequences precisely intercalated between two intact exons of the mature muscle dystrophin mRNA. An in silico search of the whole dystrophin genomic sequence revealed that these inserts correspond to cryptic exons flanked by one strong and one weak consensus splice site and located in the mid-part of large introns (introns 60, 9, 1M, and 62, respectively). In each case we identified an intronic point mutation activating the cryptic donor or acceptor splice site.