Mild generalized epilepsy and developmental disorder associated with large inv dup(15).

Purpose: Several studies attempted to clarify the genotype-phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader-Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome.

Benign partial epilepsies of adolescence: a report of 37 new cases.

Purpose: To delineate the electroclinical features of patients with partial seizures in adolescence with a benign outcome.

Methods: Patients were recruited in five different Italian epilepsy centers. Patients were selected among those with partial seizures between ages 11 and 17 years.

Symptomatic epilepsy with facial myoclonus triggered by language.

We report on a patient with a left frontal lesion who, many years after an injury, developed non-fluent aphasia and facial myoclonic jerks triggered by speaking and listening to spoken language. At age 57, the patient first noted that he would begin to stutter when delivering lectures at conferences. The stuttering would worsen if he continued talking.

Tourettism as clinical presentation of Huntington's disease with onset in childhood.

Infantile Huntington's disease (HD) shows a wide clinical heterogeneity. Here we describe the case of a child affected by HD who showed unusual neurological features consistent with tourettism. The absence of family history and persisting normal magnetic resonance imaging (MRI) results long after the onset of symptoms delayed the diagnosis of the disease.

Glutamate ingestion: the plasma and muscle free amino acid pools of resting humans.

Monosodium glutamate (MSG) ingestion is known to increase plasma glutamate concentration, and MSG infusion stimulates insulin secretion. We investigated the impact of MSG ingestion on both the plasma and intramuscular amino acid pools. Nine postprandial adults ingested MSG (150 mg/kg) and rested for 105 min.

Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.

Purpose: The chromosome 20 ring [r(20)] is a rare chromosomal disorder without clear phenotypical markers. We describe the electroclinical pattern in a group of patients with r(20).

Methods: We observed 3 patients (a boy, patient 1; his mother, patient 2; and an unrelated man, patient 3), performing prolonged video-EEG and cytogenetic studies and fluorescent in situ hybridization (FISH) with chromosome-specific telomeric probes.

4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern.

We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks.

Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature.

The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm).

Status epilepticus in benign rolandic epilepsy manifesting as anterior operculum syndrome.

We report the fourth case of partial status epilepticus (SE) in benign epilepsy of childhood with rolandic spikes (BECRS). The child suffered long-lasting attacks involving the mouth and pharynx, clinically manifest as speech arrest, sialorrhea, and drooling. Both clinical and electroencephalogram (EEG) data were compatible with the diagnosis of BECRS.

Sleep and benign partial epilepsies of childhood: EEG and evoked potentials study.

The electroclinical picture and nosological limits of benign partial epilepsy of childhood with rolandic spikes (BERS) have been better defined by nocturnal sleep records. In all stages of sleep, there is a significant increase in frequency and amplitude of rolandic spikes (RS) without change of their morphology. Another interesting observation is the appearance of independent spike foci in sleep, or brief subclinical spike wave discharges which are limited to the state of drowsiness.