Febrile convulsions are a common form of childhood seizure. It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic and co-workers recently reported linkage of a putative autosomal dominant febrile convulsion gene to chromosome 8q13-21. We report here another autosomal dominant febrile convulsion locus on chromosome 19p. Linkage analysis in this large multi-generational family gave a maximum pairwise lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the chromosome 8 locus was excluded in this family. Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which we call FEB2 , can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.3, between loci D19S591 and D19S395.

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To determine the incidence of subependymal (SEH) or intraventricular hemorrhage (IVH) and its short-term outcome, infants of less than 35 weeks' gestation who required intensive care were evaluated and computerized tomographic scans obtained. If the scans showed blood, serial scans were followed until the hemorrhage had resolved and ventricle size was stable. Hemorrhage was quantitated; Seventy-seven of 191 (40.3%) infants were shown to have SEH, IVH, or both; 22 of them (28%) died, and hemorrhage was thought to be the primary cause of death in 17. Fifty-five survivors (71%) with SEH, IVH, or a combination of the two had serial follow-up scans. Six had SEH alone; 49 had IVH. Severe progressive hydrocephalus developed in 12 (22%) infants. Thirty-seven (75.5%) die not show progressive hydrocephalus. The degree of hemorrhage in these 37 was mild in 14, moderate in 13, and marked in 10. Of those with progressive hydrocephalus, hemorrhage was marked in 8 and moderate in 4. Hydrocephalus resolved spontaneously in 4 of the 12. Medical treatment (repeated lumbar punctures) was successful in 3, but failed in 4. Hydrocephalus was managed by shunt surgery in 5. This study revealed that the quantity of blood is prognostically important with regard to both survival (p less than 0.001) and development of progressive hydrocephalus (p less than 0.05). Furthermore, hydrocephalus, even if progressive, may not necessitate surgical management;

Over a 3-year period, we encountered 6 adults whose seizure control unexpectedly deteriorated with the occurrence of partial status epilepticus and daily multiple seizures. Analysis of the case histories and subsequent clinical follow-up for 1 1/2 to 3 years disclosed the following evidence that demonstrates the role of carbamazepine-epoxide in the development of the seizure exacerbation: (1) There were high serum carbamazepine-epoxide concentrations while serum carbamazepine concentrations were lower than or the same as baseline levels; (2) all patients were taking drugs that are known to increase serum carbamazepine-epoxide concentrations; (3) status epilepticus failed to respond to intravenous phenytoin loading; (4) seizure exacerbation in all patients was corrected by withholding carbamazepine dose; (5) seizure exacerbation recurred in 1 patient who resumed the same dose of carbamazepine; and (6) there were no prior status epilepticus or daily multiple seizures despite previous toxicities with other antiepileptic drugs in 3 patients. Our experience shows that inconspicuous elevation of carbamazepine-epoxide levels during polytherapy may precipitate a distinct state of drug toxicity characterized by severe exacerbation of seizures. Mental retardation may be a predisposition to this condition.

In two children, ages 22 months and 4 years, after slight trauma, flaccid weakness of both arms developed, followed by flaccid quadriplegia with sphincter involvement. No vertebral fracture or dislocation was found, myelograms were negative, and diagnosis was made only after the full clinical syndrome developed. Pathologic studies revealed ischemic infarction involving the cervical cord and low medulla in one patient, and central gray matter of low cervical cord in the other, without hematomyelia or external compressive lesions. The pattern of infarction may be related to spasm of distal branches of the central sulcal arteries in a terminal arterial bed.