V. Sgro

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

Summary: 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. Only during SE was the clinical picture similar to that observed in the operculum or Foix‐Chavany‐Marie syndrome. SE remission was obtained with the usual antiepileptic drug therapy (diazepam, clobazam, valproate). EEG records showed additional patterns of continuous spike‐waves during slow sleep and specific inhibition and blocking of interic‐tal centrotemporal spikes by mouth and/or tongue voluntary movements.

Chromosome 20 Ring : A Chromosomal Disorder Associated with a Particular Electroclinical Pattern

Summary: 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).

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

Summary: We report an electroclinical and cytogeneticstudy 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 byeye closure; bursts of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12–pl3 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12–p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.

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). The foramen magnum was narrowed, the transverse diameter measuring 15 mm and the 50th percentile being, for age, 26 mm. Somatosensory evoked potentials (SEPs) revealed bilaterally prolonged interpeak latencies Erb-N13, slowing of central conduction time N13-N20 from right median nerve stimulation, and block from left median nerve. The suspicion of cervicomedullary compression was confirmed by MRI, showing a very marked stenosis with compression exerted by the odontoid process. Further, a stenotic cervical canal and optic nerves verticalization were manifest. The patient underwent neurosurgical decompression by suboccipital craniectomy and cervical-C1 laminectomy. In spite of treatment, both neurologic and respiratory problems (rapid, shallow and almost abdominal breathing) were unchanged. The girl died 4 1/2 months later. The authors emphasize the important role of SEPs in detection of cervicomedullary compression in achondroplastic children and also stress the necessity of an early surgical treatment as the only condition for possible clinical improvement and/or full recovery.

Mild Generalized Epilepsy and Developmental Disorder Associated with Large Inv Dup(15)

Summary:  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.