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Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies. Case presentation: We present the first Bulgarian genetically confirmed patient with OCRL. The patient had facial dysmorphism, cryptorchidism, congenital cataracts, nystagmus, delayed physical and mental development, and poor nutritional status. He had severe rickets, metabolic acidosis, hypokalaemia, hypophosphataemia, and low IGF-1 levels at the age of three, in addition to his developmental delay. The molecular-genetic analysis reported a pathogenic variant c.1124A>G, p.H375R in the OCRL gene. This variant was inherited from the mother, who was a carrier. Following the diagnosis of OCRL, treatment with potassium citrate, phosphate, and calcitriol was initiated, along with an increase in caloric intake. Following general physical and biochemical improvement, therapy with rhGH started 4 years ago, and current results are presented. Conclusions: The patient with Löwe syndrome who was presented with a 6-year follow-up demonstrates the complexity of rare disease cases and the value of multidisciplinary care together with growth hormone treatment for better results in these patients. [ABSTRACT FROM AUTHOR]

Background: The databases of children's anthropometric parameters are often outdated, rarely representative and are not always available at an international level. Objectives: To present children's anthropometric parameters in six European countries that contributed to the Feel4Diabetes project and find country-specific differences. Design/Setting: The Feel4Diabetes study was performed between 2016 and 2018, targeting children in Belgium, Bulgaria, Finland, Greece, Hungary and Spain. The current study presents data from the baseline and the yearly follow-up anthropometric measurements. Subjects: In total, 20,832 measurements of children (48.7% boys) between 6 and 10 years of age were conducted. Main outcome measure: weight, height, BMI. Results: Belgian boys had the lowest body weight and height, while Greek boys had the highest body weight, and Finnish had the highest body height. The highest proportion of overweight (percentile above 85%) and obese boys (percentile above 95%) was in Greece, followed by Hungarian, Spanish, Bulgarian and Finnish boys. In contrast, Belgian boys had the lowest ratio in both categories. Among girls, Greece had the highest; Belgium had the lowest body weight; Finland was the highest in all age categories. The ratio in the overweight range was the highest in Greece, followed by Spanish, Bulgarian and Hungarian girls, who were second in the obese category. Finnish girls had lower and Belgian girls had the lowest ratio in both BMI categories. All the detailed data are presented in tables, and the trends are figures. Conclusions: Our study presents fresh and comparable anthropometric data of children between 6 and 10 years of age in six European countries, supporting the need for appropriate obesity prevention. [ABSTRACT FROM AUTHOR]