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Benign afebrile convulsion with gastroenteritis - A differential to consider for afebrile seizure in children

Ng RL

Med J Malaysia, 2018 10;73(5):328-329.
PMID: 30350815

A 5-year-old girl presented with three brief episodes of afebrile seizure within 24 hours. There was no significant past medical history but she had symptoms of acute gastroenteritis for the past 2 days. She was mildly dehydrated with no neurological signs. Serum electrolytes and blood sugar were normal and cerebrospinal fluid examination was negative for meningoencephalitis. Contrast-enhanced CT Brain showed no evidence of intracranial lesion, haemorrhage or meningeal enhancement. Only stool investigation was positive for Rotavirus. The conclusion of Benign Afebrile Convulsion with gastroenteritis (CwG) was established after excluding other serious causes of afebrile seizure in children.
A case report of benign transient hyperphosphatasaemia: What can we learn from this?

Ng RL, Azriyanti AZ

Med J Malaysia, 2018 10;73(5):336-337.
PMID: 30350819 MyJurnal

We report a case of benign transient hyperphosphatasaemia (BTH) which was noted incidentally when the patient was admitted for acute tonsillitis. Blood result showed alkaline phosphatase (ALP) at admission was markedly elevated with value of 2481 U/L [normal range 34 - 104 U/L]. He had no history or physical findings to suggest liver or bone disease. Various blood and radiographic investigations were performed to determine the cause but results were normal. He was followed-up with repeat blood test and the alkaline phosphatase normalised after 42 days.
Congenital arhinia - First published case in Malaysia

Ng RL, Rajapathy K, Ishak Z

Med J Malaysia, 2017 10;72(5):308-310.
PMID: 29197888 MyJurnal

Congenital arhinia is one of the rare craniofacial malformation that may cause severe respiratory distress at birth due to upper airway obstruction. Our patient, whose abnormalities were only detected after delivery in our centre, is the first reported case of congenital arhinia in Malaysia. Contrary to popular belief that neonates are obligate nasal breather, our patient adapted well to breathing through mouth before an elective tracheostomy was performed on day four of life.
Cortical hyperostosis, rare adverse effect of prostaglandin

Ng RL, Koay HS, Jamil MT

Med J Malaysia, 2020 11;75(6):748-749.
PMID: 33219191

We describe here an infant girl with ductal dependent complex cyanotic heart disease, who required prostaglandin infusion for a total of five months prior to Blalock-Taussig shunt procedure. Her alkaline phosphatase activity was raised after seven weeks being on prostaglandin and only dropped to the normal range seven days after discontinuing prostaglandin infusion. During our review at five months old, her limbs were grossly swollen and radiographic examination showed dense periosteal reaction in the long bones. Based on the clinical findings and investigations, she was diagnosed to have cortical hyperostosis, which is an uncommon side effect of prostaglandin. She underwent right Blalock-Taussig Shunt procedure successfully with no major complications. Unfortunately, she succumbed to infection two months after surgery.
Association of common genetic variants with vitamin D status in Malaysian children with epilepsy

Kong AN, Fong CY, Ng CC, Mohamed AR, Khoo TB, Ng RL, et al.

Seizure, 2020 Jul;79:103-111.
PMID: 32464532 DOI: 10.1016/j.seizure.2020.05.009

PURPOSE: Children with epilepsy (CWE) are at risk of vitamin D deficiency. Single nucleotide polymorphisms (SNPs) affecting the vitamin D pathway are potentially important risk factors for serum 25-hydroxyvitamin D [25(OH)D] concentration. The aims of our study were to evaluate the association of vitamin d-related SNPs to serum 25(OH)D concentrations in Malaysian CWE.
METHODS: Cross-sectional study of Malaysian ambulant CWE on antiseizure medication for >1 year. Sixteen SNPs in 8 genes (GC, VDR, CYP2R1, CYP24A1, CYP27B1, CYP27A1, CYP3A4, NADSYN1/DHCR7) were genotyped. Linear and logistic regression models and co-variates adjusted analyses were used. SNPs with significant associations were further analysed in a group of ethnically-matched healthy Malaysian children.
RESULTS: 239 CWE were recruited (52.7% Malay, 24.3% Chinese and 23.0% Indian) with mean serum 25(OH)D of 58.8 nmol/L (SD 25.7). Prevalence of vitamin D deficiency (≤37.5 nmol/L) was 23.0%. Minor allele of GC-rs4588-A was associated with lower serum 25(OH)D in the meta-analysis of both CWE (β -8.11, P = 0.002) and Malaysian healthy children (β -5.08, P < 0.001), while VDR-rs7975232-A was significantly associated with reduced odds of vitamin D deficiency in Malay subgroup of CWE (OR: 0.16; 95% CI: 0.06-0.49; P = 0.001) and this association was not found in the healthy children group.
CONCLUSIONS: Our results suggest that GC-rs4588 is associated with lower serum 25(OH)D concentration in both Malaysian CWE and healthy children, while VDR-rs7975232A is associated with lower risk of vitamin D deficiency in Malaysian CWE of Malay ethnicity. Our findings may assist in the genetic risk stratification of low vitamin D status among CWE.
Fulltext Vitamin D deficiency and its risk factors in Malaysian children with epilepsy

Fong CY, Kong AN, Poh BK, Mohamed AR, Khoo TB, Ng RL, et al.

Epilepsia, 2016 08;57(8):1271-9.
PMID: 27378185 DOI: 10.1111/epi.13443

OBJECTIVE: 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.
METHODS: Cross-sectional study of ambulant children with epilepsy on long-term AEDs for >1 year seen in three tertiary hospitals in Malaysia from April 2014 to April 2015. Detailed assessment of pubertal status, skin pigmentation, sunshine exposure behavior, physical activity, dietary vitamin D and calcium intake, anthropometric measurements and bone health blood tests (vitamin D, alkaline phosphatase, calcium, phosphate, and parathyroid hormone levels) were obtained on all patients. Vitamin D deficiency was defined as 25-hydroxy vitamin D [25(OH)D] levels ≤35 nmol/L and insufficiency as 25(OH)D levels of 36-50 nmol/L.
RESULTS: A total of 244 children (146 male) participated in the study. Ages ranged between 3.7 and 18.8 years (mean 12.3 years). 25(OH)D levels ranged between 7.5 and 140.9 nmol/L (mean 53.9 nmol/L). Vitamin D deficiency was identified in 55 patients (22.5%), and a further 48 (19.7%) had vitamin D insufficiency. Multivariate logistic regression analysis identified polytherapy >1 AED (odds ratio [OR] 2.16, 95% confidence interval [CI] 1.07-4.36), age >12 years (OR 4.16, 95% CI 1.13-15.30), Indian ethnicity (OR 6.97, 95% CI 2.48-19.55), sun exposure time 30-60 min/day (OR 2.44, 95% CI 1.05-5.67), sun exposure time <30 min/day (OR 3.83, 95% CI 1.61-9.09), and female (OR 2.61, 95% CI 1.31-5.20) as statistically significant (p < 0.05) risk factors for vitamin D deficiency.
SIGNIFICANCE: Despite living in the tropics, a high proportion of Malaysian children with epilepsy are at risk of vitamin D deficiency. Targeted strategies including vitamin D supplementation and lifestyle advice of healthy sunlight exposure behavior should be implemented among children with epilepsy, particularly for those at high risk of having vitamin D deficiency.