A 14-year-old male patient with diagnosis of Prader-Willi syndrome in Ethiopia: a case report.

BACKGROUND: Prader-Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader-Willi syndrome-critical region on chromosome 15 (15q11.2-q13). The main clinical features are hyperphagia (which frequently results in early-onset obesity), hypogonadism, developmental delays, typical behaviors (such as obsessive-compulsive tendencies, tantrums, perseveration, insistence on sameness, and rigidity), and distinctive facial features. In infants, the most prominent findings are hypotonia and feeding difficulties. CASE PRESENTATION: This paper highlights a case of a 14 year old male patient of an Ethiopian ethnicity with diagnosis of Prader-Willi syndrome, which is first report in Ethiopia. He presented with progressive excessive weight gain, insatiable appetite, clinical and laboratory features of hypogonadism, ophthalmological refractory error, and facial features of Prader-Willi syndrome, which was further confirmed by genetic analysis. He is currently on lifestyle intervention, testosterone replacement, and treatment for vitamin D deficiency. CONCLUSION: Prader-Willi syndrome should be considered in a child who presents with progressive weight gain and other typical clinical features such as cognitive impairment, excessive insatiable eating, or hypothalamic hypogonadism. Early lifestyle intervention may help to reduce excessive weight gain. To our knowledge, this is the first case reported in Ethiopia.

Prevalence of high bloodpressure, hyperglycemia, dyslipidemia, metabolic syndrome and their determinants in Ethiopia: Evidences from the National NCDs STEPS Survey, 2015.

The prevalence of diabetes, dyslipidemias, and high blood pressure is increasing worldwide especially in low and middle income countries. World Health Organization has emphasized the importance of the assessment of the magnitude of the specific disease in each country. We determined the prevalence and determinant factors of high blood pressure, hyperglycemia, dyslipidemias and metabolic syndrome in Ethiopia. A community based survey was conducted from -April to June 2015 using WHO NCD STEPS instrument version 3.1. 2008. Multistage stratified systemic random sampling was used to select representative samples from 9 regions of the country. A total of 10,260 people aged 15-69 years participated in the study. Blood pressure (BP) was measured for 9788 individuals. A total of 9141 people underwent metabolic screening. The prevalence of raised blood pressure (SBP ≥140 and/or DBP ≥ 90 mmHg) was 15.8% (16.3% in females and 15.5% in males). The prevalence of diabetes mellitus (FBS ≥ 126 mg /dl) including those on medication was 3.2% (3.5% males and 3.0% females). The prevalence of impaired fasting glucose was 9.1% with ADA criteria and 3.8% with WHO criteria. Hypercholesterolemia was found in 5.2%, hypertriglyceridemia in 21.0%, high LDL cholesterol occurred in 14.1% and low HDL cholesterol occurred in 68.7%. The prevalence of metabolic syndrome using IDF definition was 4.8% (8.6% in females and vs. 1.8% in males). Advanced age, urban residence, lack of physical exercise, raised waist circumference, raised waist hip ratio, overweight or obesity, and total blood cholesterol were significantly associated with raised blood pressure (BP) and diabetes mellitus. Increased waist- hip ratio was an independent predictor of raised blood pressure, hyperglycemia and raised total cholesterol. Our study showed significantly high prevalence of raised blood pressure, hyperglycemia and dyslipidemia in Ethiopia. Community based interventions are recommended to control these risk factors.