Anorexia as the first clinical manifestation of von Hippel-Lindau syndrome

Abstract

Hemangioblastomas (HBs) of the brain may present without neurological symptoms over a long period of time due to their benignity and slow growth. We herein present the case of a female patient who developed a HB of the fourth ventricle presenting only with severe weight loss and anorexia. The patient was screened for mutations in all 3 exons of the VHL gene using Sanger sequencing, and was found to have a nonsense mutation in the VHL gene (single-nucleotide change causing a premature stop codon: c.481C>T; p.Arg161*), causing formation of a truncated protein, consistent with von Hippel-Lindau syndrome (VHLs). The patient was first misdiagnosed with anorexia nervosa (AN) due to the lack of other symptoms. Molecular diagnosis allows further investigation of other VHLs-related tumors and timely, appropriate treatment. However, misdiagnosing anorexia nervosa may lead to poor prognosis and even death; thus, differential diagnosis is crucial in all such cases. The present case report provides evidence that fourth ventricular lesions may affect food intake control and satiety, and highlights the importance of accurate molecular diagnosis.