Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.

Hyperekplexia is a rare neurologic disorder, characterized by excessive startle response to unexpected stimuli. There are 3 cardinal features: generalized stiffness immediately after birth that normalizes during the first year of life; excessive startle reflex to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness following the startle response while patient cannot elicit voluntary movements. Awareness of this condition will avoid misdiagnosis of disorders like epilepsy. Clonazepam is an effective medical treatment. We report a patient whose frequent falls triggered by sudden noise or tactile stimuli was initially misdiagnosed as epilepsy. The clinical diagnosis was subsequently revised to hyperekplexia and confirmed by mutation analysis of the GLRA1 gene, which showed c.497G>C (p.Cys166Ser) and c.526delG (p.Asp176Metfs*16). Both of them are novel mutations. His response to clonazepam is dramatic and has been able to engage in sports and social activities.

Prevalence and risk factors for hypertension in Hong Kong Chinese adolescents: waist circumference predicts hypertension, exercise decreases risk.

PURPOSE: To determine the prevalence, risk factors for and patterns of hypertension in Chinese adolescents based on a territory-wide school based screening programme in Hong Kong. METHODS: Cross-sectional anthropometric and oscillometric blood pressure (BP) measurements and lifestyle information were obtained as part of a growth survey of students from randomly selected secondary schools in Hong Kong. Those with blood pressure ≥ 95th centile were screened a second or third time. Hypertension is defined as elevated blood pressure on three separate occasions. The independent effects of age, sex, body mass index, high waist circumference (≥ 85th centile), sleep duration, family history of hypertension and frequency of exercise on hypertension were explored by multivariate analysis. RESULTS: Among the 6193 students screened, the prevalence of elevated blood pressure on the first, second and third screens was 9.54%, 2.77% and 1.44% respectively. Hypertension was more likely to be systolic. High waist circumference (≥ 85th centile) was independently associated with a higher risk of hypertension (adjusted OR 2.4), while exercising twice or more per week was protective (adjusted OR 0.28). CONCLUSIONS: The prevalence of hypertension in Hong Kong Chinese adolescents is 1.44%. The current study shows high waist circumference is a predictor of hypertension in adolescents, while increased physical activity is a protective factor. Incorporating waist circumference into screening protocols may increase the sensitivity of cardiovascular risk stratification. Healthcare providers should be strong advocates helping to prevent obesity and promote physical activity in adolescents and children.

Use of intramuscular ketamine for endoscopy sedation in children.

OBJECTIVE: To report the experience of the use of intramuscular (IM) ketamine for endoscopy sedation in children. METHODOLOGY: Children over 6 months of age scheduled for elective endoscopy - esophagogastroduodenoscopy (EGD), bronchoscopy and nasopharyngolaryngoscopy (NPL) were enrolled for (2 mg/kg to 3 mg/kg) intramuscular ketamine sedation. A repeated dose of 2 mg/kg intramuscular ketamine was administered to those who failed the first sedation. Alternative sedation (intravenous midazolam and fentanyl) was given to children who failed ketamine sedation twice. Sedation was regarded as successful if the procedure was completed by endoscopist with a single dose of ketamine. RESULTS: Sixty children were enrolled for the study. Overall success rate in our patients was 78.3%. Failure rate in infants was 50%, i.e. 4 out of 8. For children aged 1-7, the failure rate was 32%. Failure rate dropped markedly to 6.7% for those older than 7 years of age, and it showed significant difference when compared with the other two groups. Two cases of laryngospasm were experienced in the present study. CONCLUSION: Intramuscular ketamine is an effective medication for sedation in endoscopy undertaken in children over age 7 years, but it should be avoided with children under age 7 because of the high failure rate.