Longitudinal Data in Patients with Niemann-Pick Type C Disease Under Combined High Intrathecal and Low Intravenous Dose of 2-hydroxylpropyl-β-cyclodextrin.

Niemann-Pick Type C disease (NPC) is a rare, incurable, autosomal-recessive, lysosomal storage disorder with protean and progressive neurovisceral manifestations characterized by accumulation of intracellular unesterified cholesterol. The investigational use of 2-hydroxypropyl-beta-cyclodextrin (HP-β-CD) in the treatment of NPC has shown promising results in improving life expectancy and reducing neurological damage in this patient population. This case report describes two children with the neurological form of NPC: a 5-year-old male patient in advanced stage of the disease and an 11-year-old female patient in moderately advanced stage.

Effect of levetiracetam monotherapy on lipid profiles and thyroid hormones in children with epilepsy: A prospective study.

Long-term treatment with some older antiepileptic drugs may lead to dyslipidemia or thyroid disturbances. The effect of levetiracetam (LEV), a newer broad spectrum antiepileptic agent, on cardiovascular risk factors is not yet sufficiently investigated. The purpose of this study was to investigate prospectively the effect of LEV monotherapy on serum lipid profile and thyroid hormones levels in children with epilepsy.

Short-Term and Long-Term Effects of Levetiracetam Monotherapy on Homocysteine Metabolism in Children with Epilepsy: A Prospective Study.

Background And Purpose: Long-term treatment with some older antiepileptic drugs may lead to hyperhomocysteinemia. Levetiracetam (LEV) is a newer broad-spectrum antiepileptic agent whose effects on homocysteine concentrations remain unclear. The purpose of this study was to prospectively determine the short-term and long-term effects of LEV monotherapy on homocysteine metabolism in children with epilepsy.

Long-term effect of levetiracetam monotherapy on haematological parameters in children with epilepsy: A prospective study.

Studies evaluating the effect of Levetiracetam (LEV) on haematological parameters in patients with epilepsy are very limited. Short-term effects on haematological parameters in children with epilepsy, at 2 and 6 months of LEV treatment, have been previously reported in the literature. Purpose of the current study was to further investigate the long-term changes on haematological parameters in children with epilepsy during LEV monotherapy.

Sleep architecture and epileptic characteristics of drug naïve patients in childhood absence epilepsy spectrum. A prospective study.

Purpose: Childhood absence epilepsy (CAE) is an epileptic syndrome presenting between 2nd-10th years. The spells are elicited with hyperventilation (HV) while sleep seems to exacerbate the electrical activity. Our aim is to describe sleep architecture and its relationship with epileptic discharges (EDs) in patients with CAE, before treatment and one year later.

OC35 - Child Friendly Healthcare Initiative, implementation project in a paediatric department in Greece.

Unlabelled: Theme: Accreditation and quality improvement.

Introduction: Child Friendly Healthcare Initiative (CFHI) aims to improve quality of experience and health care given to children and families by improving realisation of children's rights and reducing unnecessary fear, anxiety and suffering during and because of health care.

Aim: To present results of preliminary CFH assessment.

A case of startle epilepsy associated with IL1RAPL1 gene deletion.

Background: Startle epilepsy is a type of reflex epilepsy in which the seizures are mainly precipitated by unexpected sensory stimuli.

Patient: We present an 18-month-old boy with global developmental delay and multiple episodes of loss of tone after auditory cues.

Results: The neurophysiologic study (video-electroencephalographic monitoring) revealed the epileptic nature of the stimulus-induced drop attacks, and the comparative genomic hybridization analysis revealed a microdeletion encompassing the interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene.

Short-term effect of levetiracetam monotherapy on haematological parameters in children with epilepsy: a prospective study.

Studies evaluating the effect of levetiracetam (LEV) on haematological parameters in patients with epilepsy are very limited. Clinical trials have also reported an unexplained increased incidence of pharyngitis and rhinitis in LEV-treated patients. The objective of this study was to evaluate prospectively the changes in haematological parameters in children treated with LEV monotherapy.