Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.

Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous seizure types with nocturnal generalized tonic-clonic seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.

Volumetric analysis of a specific language region - the planum temporale.

Planum temporale volumes were determined for 42 control children (ages 4.2-15.7 years) using magnetic resonance imaging. The mean left planum temporale volume was 2729 mm3 (SD = 567) and the mean right planum temporale volume was 2758 mm3 (SD = 546). No significant hemispheric asymmetry was demonstrated. Analysis of co-variance (ANCOVA) showed that the absolute and proportional planum temporale volumes were not significantly associated with age or gender. We also demonstrated a reproducible method for planum temporale volume measurement by acquiring images in the coronal plane and then visualising the sagittal plane to improve accuracy for the posterior border.

Epilepsy in twins: insights from unique historical data of William Lennox.

OBJECTIVE: To classify the Lennox twin pairs according to modern epilepsy classifications, use the classic twin model to identify which epilepsy syndromes have an inherited component, search for evidence of syndrome-specific genes, and compare concordances from Lennox's series with a contemporary Australian series. METHODS: Following review of Lennox's original files describing twins with seizures from 1934 through 1958, the International League Against Epilepsy classifications of seizures and epileptic syndromes were applied to 169 pairs. Monozygous (MZ) and dizygous (DZ) pairs were subdivided into epilepsy syndromes and casewise concordances estimated. RESULTS: The authors excluded 26 pairs, with 71 MZ and 72 DZ pairs remaining. Seizure analysis demonstrated strong parallels between contemporary seizure classification and Lennox's terminology. Epilepsy syndrome diagnoses were made in 75%. The MZ and DZ casewise concordance estimates gave strong evidence for a major genetic influence in idiopathic generalized epilepsies (0.80 versus 0.00; n = 23). High MZ casewise concordances also supported a genetic etiology in symptomatic generalized epilepsies and febrile seizures. The pairs who were concordant for seizures usually had the same syndromic diagnoses in both twins (86% in MZ, 60% in DZ), suggesting syndrome-specific genes. Apart from partial epilepsies, the MZ casewise concordances were similar to those derived from Australian twin data. CONCLUSIONS: The authors were able to apply contemporary classifications to Lennox's twins. The data confirm genetic bases for common generalized epilepsies as well as febrile seizures and provide further support for syndrome-specific genes. Finally, comparable results to our Australian series were obtained, verifying the value of twin studies.

Rasmussen's syndrome in a 54 year old female: more support for an adult variant.

Rasmussen's syndrome, a syndrome of chronic focal encephalitis, is usually considered to be a disease of childhood. Typical features include intractable focal seizures and progressive unilateral neurological deficits with radiological evidence of focal cortical atrophy. This report documents the case of the oldest patient yet described in the literature with Rasmussen's syndrome. Magnetic resonance imaging revealed gadolinium enhancing tissue, not previously described in this condition.

Cerebral arterial gas embolism by helium: an unusual case successfully treated with hyperbaric oxygen and lidocaine.

A 27-year-old man inhaled helium from an unregulated pressurized cylinder and underwent cerebral arterial gas embolism (CAGE), leaving him blind and with radiologic evidence initially suggesting cortical infarction. There was complete recovery of vision and substantial regression of the radiologic changes after 4 hyperbaric oxygen treatments and a 54-hour lidocaine infusion, which began 6 hours after the accident. This is the second reported case of CAGE occurring by this mechanism and the first case of unequivocal CAGE in which lidocaine has been used as an adjunctive treatment with hyperbaric oxygen.

The brain-to-liver mercury ratio increases with aging in mice.

There was no significant change in the total amount of mercury in organs (lung, heart, kidney, brain, and liver) from male C57BL/6J mice ranging in age from 133 to 904 days of age maintained under conventional conditions with no known source of mercury exposure other than background concentrations. The lowest values were found in the liver and the highest in the brain, with considerable variation in the mercury content between individual mice for all organs examined. The ratio of mercury in the brain to that in the liver, however, was found to significantly increase with aging in an exponential manner. A similar result was found for the ratio of brain to kidney mercury. We conclude that older mice are less able to maintain low brain-to-liver ratios of mercury regardless of the total body content of mercury. Dietary mercury ranging from 200 to 20,000 ppm Hg had little or no influence on the life span of Drosophila fruit flies, suggesting that the effect of mercury is probably not on life span itself but on other factors associated with the aging process such as neurological disfunction.

The pulmonary component of the second heart sound in acquired aortic stenosis.

The amplitude of the pulmonic component of the second sound in aortic stenosis was studied in 49 patients with this lesion. As controls, 50 normal subjects were also studied. Both groups were investigated by phonocardiography, apex cardiography and arterial tracings. Nineteen patients with aortic stenosis and four subjects without it were also studied by cardiac catheterization and angiography. The amplitudes of the two components of the second sound were compared, and the ratio of each with the amplitude of the first sound was determined. The ratios of both the aortic and the pulmonic component to that of the first sound were decreased in aortic stenosis, and the decrease of the pulmonic component was comparable to that of the aortic component. These findings could be related to prolongation of the isovolumic relaxation period of both ventricles caused by an influence of the left ventricle on the right, most likely due to functional changes of the interventricular septum.