PDF File - Mahidol University

348
Abstracts
TU-3A
Pediatric epilepsy: clinical update
O. Dulac
Service de Neuropediatrie Hopital Saint-Vincent de Paul,
France
One of the major challenges in paediatric epilepsy is to
prevent psychomotor and behavioural deterioration. It may
result from long lasting or frequent seizures, or from major
activation of so-called interictal paroxysmal activity. Early
identification of at risk conditions and risk factors are necessary
conditions to prevent such deterioration. Risk factors for
hypothalamic harmatoma (HH) syndrome are Sturge-Weber
disease, tuberous sclerosis and callosal agenesis that are
disclosed from birth with neuroradiology. For Dravet
syndrome, the identification of abnormal genetic background
will permit optimising new antiepileptic drug treatment and
prevent the use of worsening compounds, to prevent status
epilepticus. West and Lennox-Gastaut syndromes may be
precipitated by inappropriate medication administered for
other types of seizures. For myoclonic-astatic epilepsy, the
early diagnosis of this syndrome, presently based on the clinical/EEG
features could benefit from the ongoing progress in
molecular genetics, permitting early adequate treatment to
prevent the occurrence of myoclonic status. Symptomatic
continuous spikes and waves during slow sleep (CSWS)
may complicate pre-, peri- or early postnatal ischaemic
brain lesions. As for cryptogenic CSWS, some medications
may precipitate the generalisation and the continuous spikewave
activity.
TU-3B
Genetics of epilepsy
I.E. Scheffer
Epilepsy Research Institute, University of Melbourne, Austin
and Repatriation Medical Centre, Monash Medical Centre
and Royal Children’s Hospital, Melbourne, Australia
Revolutionary insights have been gained from the discovery
of epilepsy genes over the last 7 years. Although only ten
idiopathic epilepsy genes have been identified to date, many
encode subunits of ligand-gated and voltage-gated ion channels
which are associated with specific epilepsy syndromes.
For example, ligand-gated ion channels with mutations
include neuronal nicotinic acetylcholine receptors in Autosomal
dominant nocturnal frontal lobe epilepsy and gamma
amino butyric acid A (GABA A ) receptors in generalized
epilepsy with febrile seizures plus (GEFS 1 ) and childhood
absence epilepsy. Similarly, potassium channel genes are
mutated in benign familial neonatal convulsions and sodium
channel genes in GEFS 1 . In vitro functional studies of
sodium channel and GABA mutations show loss of function.
Two recently identified epilepsy genes suggest different
pathways. In autosomal dominant partial epilepsy with auditory
features, a gene encoding the leucine-rich, glioma-inactivated
1 gene has defects. X-linked infantile spasms are
associated with mutations in Aristaless related homeobox
gene (ARX), a homeobox gene involved in gene transcription.
All genes identified thus far are associated with the rare
group of monogenic epilepsies. These genes may not be relevant
to the common idiopathic epilepsies following complex
inheritance where several genes interact and environmental
factors play a role. The challenge is to determine the genes
involved in the common epilepsies and how they interact to
produce specific epilepsy syndromes. A range of strategies
such as sib pair analysis and association studies is being
adopted to solve the genetics of the common epilepsies but
it is unclear which will bear fruit. Unravelling the genetics of
the idiopathic epilepsies holds the promise of refining diagnosis
and treatment in the future.
PL-4/TU-4
Infectious Disease and Immunology
PL-4
Neurological manifestations of falciparum malaria in
children
C.R.J.C. Newton
Neuroscience’s Unit, Institute of Child Health, London, UK
Plasmodium falciparum remains one of the most common
causes of central nervous system infection world-wide, with
children living in sub-Saharan Africa bearing the brunt of the
disease. In comparison to other forms of human malaria, P.
falciparum appears to have a propensity for the brain. The
manifestations of severe falciparum malaria depend upon the
age of the patient, the immune status and there appear to be
differences in the clinical presentation between children
living in Africa and those in Asia. In African children,
seizures and cerebral malaria are the most common acute
manifestations. About 11% of these children with cerebral
malaria develop neurological deficits, of which half appear to
be transient. However other children develop neuro-cognitive
deficits, particularly language impairment and epilepsy.
Epilepsy is associated with complicated seizures during
admission. In Asia, cerebellar ataxia and other post-malaria
neurological syndromes occur, although the aetiology is
unclear. The impact of parasitisation and the long-term
consequences have received little attention, and may have
profound influence on children growing up in endemic areas.
TU-4A
Bacterial meningitis
V. Kalra
Pediatrics, All India Institute of Medial Sciences, New
Delhi, India
Bacterial meningitis, is a catastrophic childhood illness