Abstracts

A specific clinical phenotype was recognised in many children with cryptogenic epilepsy in a tertiary child neurology clinic in a large metropolitan city in India. A systematic study of such patients was therefore undertaken to verify whether this phenotype was significantly different from the general population. Twenty children of cryptogenic epilepsy with the specific phenotype were selected by one of the authors (VPU). There were several features reminiscent of Cohen[apos]s syndrome a dysmorphic syndrome linked to 8q22. Seizures are however not described in this syndrome (1). We systematically looked for all features of Cohen[apos]s syndrome (1) in this group of patients i.e. facial physiognomy, head circumference, cubital angle, mid-truncal obesity (chest/abdominal ratio), narrow slender hands / feet, wide sandal gap, joint laxity, hypotonia, weakness, opthalmic abnormailities, mental retardation / learning difficulties and neutropenia.
Age, sex, height and weight matched 25 control children were recruited by one of the authors unfamiliar with the clinical phenotype (PM). The same clinical features were studied in this group. Each feature in the two groups was then compared and statistically analysed using the chi-square test / Fischer Exact test for categorical variables and the [lsquo]t- test[rsquo] for continuous variables. A p value of less then 0.05 was considered significant. There were 12 boys and 8 girls. The mean age was 10.9 years. There were 10 focal epilepsies, 7 generalised epilepsies (of which 3 were myoclonic [ndash] astatic), 2 had Dravet[rsquo]s syndrome and 1 had both generalised and focal seizures. Nine were refractory and 9 were controlled for [gt] 6 months. Of 13 tested children 11 were mentally retarded and 2 had borderline intellect.
Significant differences between the cases and the controls was 1) presence of mid-truncal obesity (p = .003), 2) prominent incisors (p=0.00001), open mouth (p=006), hypotonia (p[lt]0.001), proximal lower limb weakness (p[lt]0.001), widened sandal gap (p=0.0002). Differences tending to significance included a short philtrum and long [amp] narrow hands / feet. The remaining findings were not statistically different. Importantly, pigmentary retinopathy was seen in none, myopia in only 3 and neutropenia in 1 patient. These features are considered of diagnostic significance in Cohen[rsquo]s syndrome. In a subgroup of highly selected children with cryptogenic epilepsy certain dysmorphic features are seen more often than in the general population. Some of these features resemble those seen in Cohen[rsquo]s syndrome. and we are presently conducting linkage studies to the COH 1 locus. Further studies in unselected children with cryptogenic epilepsy are warranted.
References
1. J Med Genet--Chandler et al.40(4):233