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

Autor(es)

Marques, Julia Hatagami ^[1] ; Batista, Rafael Loch ^{[1, 2, 3]} ; De Moraes, Mariana Teichner ^[4] ; Morais, Barbara Albuquerque ^[4] ; Gomes Pinto, Fernando Campos ^[4] ; Almeida, Madson Q. ^{[2, 3]} ; Aragao, Denise De Cassia ^[3] ; Teixeira, Manoel Jacobsen ^[4] ; Mendonca, Berenice B. ^{[2, 3]} ; Cordas, Taki Athanassios ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Fac Med, Inst Psychiat, Eating Disorders Unit AMBULIM, BR-05403903 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Sch Med, Internal Med Dept, Endocrinol Div, BR-05403903 Sao Paulo - Brazil

^[3] Univ Sao Paulo, Sch Med, Hormone & Mol Genet Lab LIM 42, BR-05403903 Sao Paulo - Brazil

^[4] Univ Sao Paulo, Sch Med, Inst Psychiat, Div Funct Neurosurg, BR-05403903 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: MOLECULAR AND CLINICAL ONCOLOGY; v. 13, n. 5 NOV 2020.
• Citações Web of Science: 0

Resumo

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. (AU)

• Processo FAPESP: 14/50137-5 - Caracterização molecular de doenças monogênicas do desenvolvimento por sequenciamento em larga escala
• Beneficiário: Berenice Bilharinho de Mendonça
• Modalidade de apoio: Auxílio à Pesquisa - Programa Equipamentos Multiusuários