Is Rolandic epilepsy associated with abnormal findings on cranial MRI?

Rolandic epilepsy (RE) is designated an idiopathic epilepsy syndrome, and hence no lesional abnormalities are expected on MRI exam. Recent reports suggest that MRI abnormalities are not only common, but may be specific for temporal lobe epilepsy, and lateralized to the side of EEG discharges. However, no controlled study has been performed to test the hypothesis of association between MRI abnormalities and Rolandic epilepsy. We performed an unmatched case-control study to test the hypothesis of association between MRI abnormalities and Rolandic epilepsy, using 25 typical RE cases and 25 children with migraine. Two independent examiners rated the MRIs for abnormalities. Examiners were blinded to the study hypothesis and identity of case and control exams. Fifty-two percent of RE exams contained at least one abnormality: peri/hippocampal abnormality (1 case), non-localized congenital malformation (7 cases), subcortical parenchymal hyperintensities (2 cases), periventricular parenchymal hyperintensities (1 case), dilated perivascular spaces (6 cases). There was no difference between the number or type of abnormalities in cases and controls. No type of abnormality lateralized to the hemisphere from which the EEG spikes emanated. The odds ratio of association between MRI abnormalities and RE was 0.87, 95% CI: 0.18–4.33 after adjusting for potential demographic and technical factors. We conclude that routine cranial MRI abnormalities are common in RE, but no more common than in controls, and not specific for RE

Scleroderma-like skin changes not involving the hand in a prepubertal male with type I diabetes mellitus: A case report

To our knowledge there have been no reports of scleroderma-like skin changes, not affecting the hand in prepubertal patients with Type I Diabetes Mellitus (T1DM). We report a prepubertal caucasian male with T1DM, and early morpheatype skin changes of the trunk and extremities, not involving the hand

Double laterally rotated bilayer flap operation for treatment of gingival recession: A report of two cases

Esthetic concerns of the patient have become an essential part of dentistry, especially Periodontics. Periodontal plastic surgery is a rapidly emerging field, which helps us to meet this criterion. Root coverage is being achieved by a variety of techniques namely pedicle grafts and free soft tissue grafts. This article highlights on 2 case reports in which a new pedicle graft technique has been used for root coverage

High Risk of Reading Disability and Speech Sound Disorder in Rolandic Epilepsy Families:Case–Control Study

PURPOSE: Associations between rolandic epilepsy (RE) with reading disability (RD) and speech sound disorder (SSD) have not been tested in a controlled study. We conducted a case–control study to determine whether (1) RD and SSD odds are higher in RE probands than controls and (2) an RE proband predicts a family member with RD or SSD, hence suggesting a shared genetic etiology for RE, RD, and SSD. METHODS: Unmatched case–control study with 55 stringently defined RE cases, 150 controls in the same age range lacking a primary brain disorder diagnosis, and their siblings and parents. Odds ratios (OR) were calculated by multiple logistic regression, adjusted for sex and age, and for relatives, also adjusted for comorbidity of RD and SSD in the proband. RESULTS: RD was strongly associated with RE after adjustment for sex and age: OR 5.78 (95% CI: 2.86–11.69). An RE proband predicts RD in family members: OR 2.84 (95% CI: 1.38–5.84), but not independently of the RE proband's RD status: OR 1.30 (95% CI: 0.55–12.79). SSD was also comorbid with RE: adjusted OR 2.47 (95%CI: 1.22–4.97). An RE proband predicts SSD in relatives, even after controlling for sex, age and proband SSD comorbidity: OR 4.44 (95% CI: 1.93–10.22). CONCLUSIONS: RE is strongly comorbid with RD and SSD. Both RD and SSD are likely to be genetically influenced and may contribute to the complex genetic etiology of the RE syndrome. Siblings of RE patients are at high risk of RD and SSD and both RE patients and their younger siblings should be screened early

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3 and 12 years of age, boys more often than girls (3:2). Focal sharp waves in the centrotemporal area define the electroencephalographic (EEG) trait for the syndrome, are a feature of several related childhood epilepsies and are frequently observed in common developmental disorders (eg, speech dyspraxia, attention deficit hyperactivity disorder and developmental coordination disorder). Here we report the first genome-wide linkage scan in RE for the EEG trait, centrotemporal sharp waves (CTS), with genome-wide linkage of CTS to 11p13 (HLOD 4.30). Pure likelihood statistical analysis refined our linkage peak by fine mapping CTS to variants in Elongator Protein Complex 4 (ELP4) in two independent data sets; the strongest evidence was with rs986527 in intron 9 of ELP4, providing a likelihood ratio of 629:1 (P=0.0002) in favor of an association. Resequencing of ELP4 coding, flanking and promoter regions revealed no significant exonic polymorphisms. This is the first report of a gene implicated in a common focal epilepsy and the first human disease association of ELP4. ELP4 is a component of the Elongator complex, involved in transcription and tRNA modification. Elongator depletion results in the brain-specific downregulation of genes implicated in cell motility and migration. We hypothesize that a non-coding mutation in ELP4 impairs brain-specific Elongator-mediated interaction of genes implicated in brain development, resulting in susceptibility to seizures and neurodevelopmental disorders