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

Marques,Julia Hatagami; Batista,Rafael Loch; De Moraes,Mariana Teichner; Morais,Barbara Albuquerque; Pinto,Fernando Campos Gomes; Almeida,Madson Q.; Aragão,Denise De Cássia; Teixeira,Manoel Jacobsen; Mendonca,Berenice B.; Cordás,Táki Athanássios

doi:10.3892/mco.2020.2135

November-2020 Volume 13 Issue 5

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November-2020 Volume 13 Issue 5

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Article

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

Authors:
- Julia Hatagami Marques
- Rafael Loch Batista
- Mariana Teichner De Moraes
- Barbara Albuquerque Morais
- Fernando Campos Gomes Pinto
- Madson Q. Almeida
- Denise De Cássia Aragão
- Manoel Jacobsen Teixeira
- Berenice B. Mendonca
- Táki Athanássios Cordás
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Affiliations: Eating Disorders Unit (AMBULIM), Institute of Psychiatry, Faculty of Medicine, University of São Paulo, São Paulo 05403-903, Brazil, Division of Functional Neurosurgery, Institute of Psychiatry, School of Medicine, University of São Paulo, São Paulo 05403-903, Brazil, Endocrinology Division, Internal Medicine Department, School of Medicine, University of São Paulo, São Paulo 05403-903, Brazil, Hormone and Molecular Genetics Laboratory (LIM/42), School of Medicine, University of São Paulo, São Paulo 05403-903, Brazil
Article Number: 65
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Published online on: September 14, 2020

https://doi.org/10.3892/mco.2020.2135
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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.

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1	Lustig RH: Hypothalamic obesity after craniopharyngioma: Mechanisms, diagnosis, and treatment. Front Endocrinol (Lausanne). 2(60)2011.PubMed/NCBI View Article : Google Scholar
2	Farr OM, Li CS and Mantzoros CS: Central nervous system regulation of eating: Insights from human brain imaging. Metabolism. 65:699–713. 2016.PubMed/NCBI View Article : Google Scholar
3	Bamps S, Calenbergh FV, Vleeschouwer SD, Loon JV, Sciot R, Legius E and Goffin J: What the neurosurgeon should know about hemangioblastoma, both sporadic and in Von Hippel-Lindau disease: A literature review. Surg Neurol Int. 4(145)2013.PubMed/NCBI View Article : Google Scholar
4	Neumann HP, Eggert HR, Weigel K, Friedburg H, Wiestler OD and Schollmeyer P: Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome. J Neurosurg. 70:24–30. 1989.PubMed/NCBI View Article : Google Scholar
5	Decker J, Neuhaus C, Macdonald F, Brauch H and Maher ER: Clinical utility gene card for: Von Hippel-Lindau (VHL). Eur J Hum Genet 22, 2014.
6	Varshney N, Kebede AA, Owusu-Dapaah H, Lather J, Kaushik M and Bhullar JS: A review of Von hippel-lindau syndrome. J Kidney Cancer VHL. 4:20–29. 2017.PubMed/NCBI View Article : Google Scholar
7	Oya S, Nejo T, Indo M and Matsui T: Pearls & Oy-sters: Anorexia and emaciation in patients with cerebellar hemangioblastoma. Neurology. 83:1298–1300. 2014.PubMed/NCBI View Article : Google Scholar
8	Pavesi G, Berlucchi S, Feletti A, Opocher G and Scienza R: Hemangioblastoma of the obex mimicking anorexia nervosa. Neurology. 67:178–179. 2006.PubMed/NCBI View Article : Google Scholar
9	Garner DM, Olmsted MP, Bohr Y and Garfinkel PE: The eating attitudes test: Psychometric features and clinical correlates. Psychol Med. 12:871–878. 1982.PubMed/NCBI View Article : Google Scholar
10	Henderson M and Freeman CP: A self-rating scale for bulimia The ‘BITE’. Br J Psychiatry. 150:18–24. 1987.PubMed/NCBI View Article : Google Scholar
11	Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al: Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 260:1317–1320. 1993.PubMed/NCBI View Article : Google Scholar
12	Rajpert-De Meyts E, Nielsen JE, Skakkebaek NE and Almstrup K: Diagnostic markers for germ cell neoplasms: From placental-like alkaline phosphatase to micro-RNAs. Folia Histochem Cytobiol. 53:177–188. 2015.PubMed/NCBI View Article : Google Scholar
13	Dornbos D III, Kim HJ, Butman JA and Lonser RR: Review of the neurological implications of von Hippel-Lindau Disease. JAMA Neurol. 75:620–627. 2018.PubMed/NCBI View Article : Google Scholar
14	Rocha L, Noronha C, Taipa R, Reis J, Gomes M and Carvalho E: Supratentorial hemangioblastomas in von Hippel-Lindau wild-type patients-case series and literature review. Int J Neurosci. 128:295–303. 2018.PubMed/NCBI View Article : Google Scholar
15	Liebner EJ: A case of Lindau's disease simulating anorexia nervosa; a roentgenologic report. Am J Roentgenol Radium Ther Nucl Med. 78:283–288. 1957.PubMed/NCBI
16	Abecassis IJ, Smith T and Chandler JP: Brain tumors and the area postrema. J Clin Neurosci. 20:1795–1797. 2013.PubMed/NCBI View Article : Google Scholar
17	Song DK and Lonser RR: Pathological satiety caused by brainstem hemangioblastoma. J Neurosurg Pediatr. 2:397–401. 2008.PubMed/NCBI View Article : Google Scholar
18	Sutton LN, Lasner T, Hunter J, Rorke LB and Sanford RA: Thirteen-year-old female with hemangioblastoma. Pediatr Neurosurg. 27:50–55. 1997.PubMed/NCBI View Article : Google Scholar
19	Morton GJ, Cummings DE, Baskin DG, Barsh GS and Schwartz MW: Central nervous system control of food intake and body weight. Nature. 443:289–295. 2006.PubMed/NCBI View Article : Google Scholar

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

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

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