SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.

Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Here, we present a large family combining all three predescribed features of SIX2 gene deletion. The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, frontonasal dysplasia with broad nasal bridge and hypertelorism, frontal bossing and large anterior fontanel in childhood, narrow ear canals, and mild conductive hearing loss with onset in childhood. Thus, the phenotypic spectrum of SIX2 haploinsufficiency is widened. Moreover, 2p21 microdeletions with SIX2 haploinsufficiency appear to lead to a recognizable phenotype with facial features resembling blepharophimosis-ptosis-epicanthus inversus syndrome.

Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report.

We report on a 3-year-old boy with myoclonic-astatic epilepsy who developed myoclonic status epilepticus with continuous twitching of the face and unresponsiveness under monotherapy with levetiracetam. Recently, a nonconvulsive status epilepticus in an adult epilepsy patient has also been described. Our observation points to the possibility of a causal relationship between the induction of myoclonic status by levetiracetam in certain patients with Doose's syndrome. However, a spontaneous evolution cannot be excluded. Levetiracetam is a well-known drug for the control of myoclonic seizures. A controlled study would provide a better understanding of any possible aggravating role in certain forms of myoclonic-astatic epilepsy.