Choong Yi Fong

Vitamin D Deficiency Among Children With Epilepsy in South Queensland

This study evaluated prevalence and risk factors for vitamin D deficiency among children with epilepsy on long-term antiepileptic drugs treated in South Queensland, Australia. Children with epilepsy seen in a tertiary neurology clinic were contacted requesting bone health blood tests during winter of 2011. Vitamin D deficiency was defined as 25-hydroxy vitamin D levels <20 ng/mL, and insufficiency between 21 and 29 ng/mL. One hundred thirty letters were sent, with 111 (85%) subsequently having blood tests performed. Vitamin D deficiency was identified in 24 (22%) of 111 and an additional 45 (41%) of 111 had vitamin D insufficiency. Multiple logistic regression analysis identified children on >2 antiepileptic drugs or with underlying genetic etiologies were more likely to have vitamin D deficiency. High proportion of children on long-term antiepileptic drugs in Queensland risk vitamin D deficiency and insufficiency despite living in the subtropics. Vitamin D monitoring and supplementation is important in the management of children on long-term antiepileptic drugs requiring tertiary care in Queensland.

An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms

We aimed to investigate the relationship between movement disorders, changes on brain magnetic resonance imaging (MRI), and vigabatrin therapy in children with infantile spasms.

Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C

We report two sisters with extensive bilateral periventricular haemorrhagic infarction (PVHI) causing cerebral palsy (CP). The older sister presented at 20 months with cortical visual blindness, spastic diplegia, and purpura fulminans. The younger sister presented aged 3 days old with apnoeas and multifocal seizures. She subsequently had global developmental delay, cortical visual blindness, spastic quadriplegia, epilepsy, and purpura fulminans at age 2 years. Neuroimaging of both siblings showed bilateral PVHI consistent with bilateral cerebral intramedullary venous thrombosis occurring at under 28 weeks’ gestation for the older sister and around time of birth for the younger sister. At latest follow‐up, the older sister (13y) has spastic diplegia at Gross Motor Function Classification System (GMFCS) level II, and the younger sister (10y) has spastic quadriplegia at GMFCS level IV. Both sisters showed partial quantitative reduction in plasma protein C antigen and severe qualitative reduction in plasma protein C anticoagulant activity. They were heterozygous for two independent mutations in the protein C gene (PROC). There was no other risk factor for CP. To our knowledge, this is the first family reported with compound heterozygous PROC mutations as the likely genetic cause of familial CP. This report adds to the list of known monogenic causes of CP.

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. The clinical phenotype of our case is more severe when compared with other published reports of symptomatic heterozygous ATP13A2 mutation carriers. To our knowledge, this is the youngest reported patient with JP associated with a heterozygous ATP13A2 mutation. Our findings expand the clinical phenotypic spectrum of JP associated with heterozygous ATP13A2 mutation.

Vincristine-induced peripheral neuropathy in survivors of childhood acute lymphoblastic leukaemia

Vincristine, an essential component of childhood acute lymphoblastic leukaemia (ALL) therapeutic protocols, is associated with dose‐dependent neurotoxicity, but its long‐term morbidity in treated children has not been clearly elucidated. The aim of this study is to determine the prevalence of vincristine‐induced peripheral neuropathy (VIPN) among Malaysian childhood ALL survivors and its impact on motor function and quality of life.

Variable outcome for epilepsy after neonatal hypoglycaemia

To evaluate the electroclinical features of epilepsy secondary to neonatal hypoglycaemia.

Vitamin D deficiency and its risk factors in Malaysian children with epilepsy

Long‐term use of antiepileptic drugs (AEDs) is a significant risk factor for vitamin D deficiency in children with epilepsy. The aims of our study were to evaluate the prevalence and risk factors for vitamin D deficiency among Malaysian children with epilepsy.

Do children with autism and developmental regression need EEG investigation in the absence of clinical seizures

A child presents to your developmental clinic at 30 months old. His mother reports developmental regression of previously acquired developmental milestones. He has now lost his language skills and only makes incomprehensible babbles. He is otherwise clinically well and does not have clinical seizures. From his early history and current behaviour your clinical diagnosis is autism. You wonder whether an electroencephalogram (EEG) should be performed to rule out possible underlying subclinical epilepsy that may contribute to developmental regression.

Review of clinical studies of perampanel in adolescent patients

To assess the clinical trial and real‐world data for adjunctive perampanel in adolescents and develop consensus recommendations to guide the use of perampanel in this population in clinical practice.

Longitudinal extensive transverse myelitis with cervical epidural haematoma following dengue virus infection

BACKGROUND Longitudinal extensive transverse myelitis associated with dengue infection is rare with no reported paediatric cases. METHODS We report a 12-year-old girl who presented with flaccid quadriplegia 8 days after onset of acute dengue fever. MRI spine showed T2 hyperintensity associated with epidural hematoma at C3-C6 level of the spinal cord. Transcranial magnetic brain stimulation revealed absent motor evoked potentials bilaterally. We also summarise and compare the reported cases of transverse myelitis associated with dengue infection. RESULTS Immunomodulatory treatment was given which included pulse methylprednisolone, intravenous immunoglobulin and plasmapharesis. Six months post-admission, there was a good (near-complete) clinical recovery with the repeat MRI showing mild residual hyperintensity at C4 level and complete resolution of epidural haematoma. CONCLUSION This is the first reported paediatric case of longitudinal extensive transverse myelitis following dengue infection. It is also the first to illustrate that in patients with concomitant epidural haematoma a good outcome is possible despite not having surgical decompression. Clinicians should be aware of parainfectious dengue-related longitudinal extensive transverse myelitis in children and consider prompt immunomodulatory treatment.