"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14. The different neuropathology of the most common forms and the new forms of holoprosencephaly recently described is also discussed and leads us to suggest classifying the interhemispheric fusion of this case as a "minimal" form of holoprosencephaly.

PDCD10 gene mutations in multiple cerebral cavernous malformations.

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3.

Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients.

Purpose: To characterize epileptic phenotype, electroencephalography (EEG) features, and epileptic evolution in patients with ring 14 r(14) syndrome.

Methods: Twenty-two patients with ring chromosome 14 were enrolled in the study. We examined age at onset, seizure semiology and frequency at onset and at follow-up, drug responsiveness/resistance, and interictal/ictal EEG data.

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.

Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported.

Transient basal ganglia and thalamic involvement following Mycoplasma pneumoniae infection associated with antiganglioside antibodies.

A case of acute and reversible bilateral basal ganglia with thalami involvement associated with serological evidence of Mycoplasma pneumoniae infection is reported. Increased titers of immunoglobulin M antibodies against GM1 ganglioside components were found during an acute phase of neurological illness. Brain magnetic resonance imaging (MRI) showed bilateral involvement of the basal ganglia and thalamus, which disappeared 1 month later.

Partial seizures with affective semiology versus pavor nocturnus.

Sudden nocturnal events with an affective semiology may have various etiologies, such as nocturnal panic attacks, nightmares, pavor nocturnus and/or different types of focal epileptic seizures, particularly in children. We describe the case of a normally developed boy who, at the age of two years, experienced nocturnal paroxysmal events that occurred about one hour after falling asleep and lasted up to 15 minutes. The clinical picture was characterized by sudden arousal, fear, inconsolable crying and an apparently voluntary search for his mother.

Intravenous levetiracetam terminates refractory status epilepticus in two patients with migrating partial seizures in infancy.

Objective: To evaluate the efficacy and tolerability of intravenous (IV) levetiracetam in refractory status epilepticus of migrating partial seizures in infancy (MPSI).

Methods: IV levetiracetam was infused in two infants, first as a loading dose of 60mg/kg in 30min, then at 30mg/kg twice a day. Both infants were continuously monitored with video-EEG before, during and after the drug trial.

The ring 14 syndrome: clinical and molecular definition.

The ring 14 (r14) syndrome is a rare condition, whose precise clinical and genetic characterization is still lacking. We analyzed a total of 20 patients with r14 and another 9 patients with a linear 14q deletion. The ring was complete, with no apparent loss of chromosome material, in 6 cases; a terminal 14q deletion, varying in size from 0.

Catatonic psychosis related to forced normalization in a girl with Dravet's syndrome.

It has been reported that the clinical presentation of forced normalization can vary from paranoid hallucinatory states to anxiety and conversion phenomena, and that it may occur in both generalised and focal epilepsies. On the basis of the evaluation of a video recording, we found that forced normalization was concomitant with catatonic psychosis in a patient with epilepsy, intellectual disability and pervasive developmental disorder. Catatonic psychosis accompanying forced normalization has not been previously reported.

Epilepsy in chromosomal abnormalities: an Italian sample.

Epilepsy is common in chromosomal abnormalities, but systematic studies are scanty. We describe an Italian sample of patients with chromosomopathies to establish epilepsy occurrence and clinical electroencephalographic (EEG) features. Forty-five patients with different types of chromosomal abnormalities were analyzed to examine different variables in patients with epilepsy (group 1) and without (group 2) and to compare the types of epilepsy in our cases with respect to a nonselected sample of Italian people with epilepsy.