Clinical features of infants with subependymalgerminolysis and choroid plexus cysts

BACKGROUND: Periventricular cysts are not rare findings in neonates. However, they are sometimes associated with serious clinical complications, such as congenital viral infections and anomalies. METHODS: We performed a retrospective follow-up study on newborns who had periventricular cysts on routine cranial ultrasound examination. RESULTS: We followed 13 infants (three preterm) with periventricular cysts. Ten had single or multiple germinolysis cysts and the remaining three had choroid plexus cysts. All infants had various kinds of underlying complications, including congenital viral infection (two with cytomegalovirus and one with rubella),Sotos syndrome (n = 4), intrauterine growth retardation (n = 5), large-for-dates(n = 4), congenital heart disease (n = 1),myelomeningocele (n = 1) and other minor anomalies. All cases of germinolysis except for one developed a neurodevelopmental abnormality and/or delay. In contrast,all three cases with choroid plexus cysts appeared to develop well,despite the underlying complications. CONCLUSIONS: Germinolysis cysts seem to be associated with systemic diseases and should be treated as a high-risk sign for impaired neurological development.     

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy

Background: Severe myoclonic epilepsy in infancy (SMEI) and borderline SMEI (SMEB) are caused by a mutation in SCN1A, which encodes a voltage‐gated sodium channel α1‐subunit protein. Although many mutations in SCN1A have been associated with clinical features of SMEI or SMEB from different ethnic groups, there have been no such reports from the South‐East Asian populations so far. Methods: Patients 1 and 2 were Indonesian children diagnosed as having SMEI and SMEB based on their clinical features. SCN1A was screened for mutations using a combination of polymerase chain reaction and denaturing high‐performance liquid chromatography. Nucleotide substitutions were confirmed on direct sequencing. Results: In patient 1, a G‐to‐A heterozygous transition was detected at nucleotide 4834 (c.4834G>A) in exon 25, leading to substitution of valine with isoleucine at amino acid position 1612 (p.V1612I) in the SCN1A protein. In patient 2 a T‐to‐G heterozygous transversion was identified at nucleotide 5266 (c.5266T>G) in exon 26, leading to substitution of cysteine with glycine at amino acid 1756 (p.C1756G) in the SCN1A protein. Both amino acid substitutions might disrupt these highly conserved regions in species from drosophila to human, leading to dysfunction of the protein. p.V1612I and p.C1756G were determined as disease‐causing mutations due to their absence in the control population. Conclusion: The first cases of SMEI and SMEB are reported in South‐East Asian populations. Two novel SCN1A mutations are also identified in these patients, p.V1612I and p.C1756G, which may lead to neuronal excitability or convulsions.