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hrp0098p3-104 | Fat, Metabolism and Obesity | ESPE2024

First report of a case of Wernicke Encephalopathy due to Acute Avoidance and Restrictive Food Intake in an Adolescent with insatiable hunger due to Melanocortin 4 Receptor Deficiency: a seemingly contradictory combination

E.P.L. van der Walle Eline , Deruyter Sarah , F. Neuteboom Rinze , L.T. van den Akker Erica

Background: Wernicke Encephalopathy (WE) is an acute life-threatening neuropsychiatric disorder caused by vitamin B1 (thiamine) deficiency. Although commonly associated with alcohol abuse in adults, it can also arise from non-alcoholic causes. WE is rarer in children. To our knowledge, WE has never been described in patients with extreme insatiable hunger due to genetic obesity, which seems paradoxical. We present a case of WE due to acute avoidance, restricti...

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hrp0098p1-42 | Fat, Metabolism and Obesity 1 | ESPE2024

Unravelling the relationship between Head Circumference and Melanocortin4-Receptor deficiency from infancy to adulthood: a case-control study

E.P.L. van der Walle Eline , J. de Groot Cornelis , S. Welling Mila , Kleinendorst Lotte , M. van Haelst Mieke , L.T. van den Akker Erica

Background: Melanocortin4-receptor (MC4R) deficiency is the most common cause of monogenetic obesity. Other forms of genetic obesity, like 16p11.2 deletion syndrome, are associated with increased head circumference (HC). Little is known about HC in patients with MC4R deficiency.Methods: This study included patients with homozygous or heterozygous, pathogenic or likely pathogenic ACMG class 4 or 5 MC4R variants. Pediatric...

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ESPE Abstracts

First report of a case of Wernicke Encephalopathy due to Acute Avoidance and Restrictive Food Intake in an Adolescent with insatiable hunger due to Melanocortin 4 Receptor Deficiency: a seemingly contradictory combination

Unravelling the relationship between Head Circumference and Melanocortin4-Receptor deficiency from infancy to adulthood: a case-control study

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