Neurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature

Georgi Tchernev; Anastasiya Atanasova Chokoeva; Uwe Wollina; Torello Lotti; Georgi Konstantinov Maximov; Ilia Lozev

doi:10.3889/oamjms.2018.004

Authors

Georgi Tchernev â€Onkodermaâ€- Policlinic for Dermatology and Dermatologic Surgery, Sofia; Medical Institute of Ministry of Interior (MVR-Sofia), Department of Dermatology, Venereology and Dermatologic Surgery, General Skobelev 26, 1606 Sofia
Anastasiya Atanasova Chokoeva â€Onkodermaâ€- Policlinic for Dermatology and Dermatologic Surgery, Sofia
Uwe Wollina StÃ¤dtisches Klinikum Dresden, Department of Dermatology and Allergology, 01067 Dresden
Torello Lotti Universitario di Ruolo, Dipartimento di Scienze Dermatologiche, UniversitÃ degli Studi di Firenze, FacoltÃ di Medicina e Chirurgia - Chair of Dermatology, University of Rome, Rome
Georgi Konstantinov Maximov Universitario di Ruolo, Dipartimento di Scienze Dermatologiche, UniversitÃ degli Studi di Firenze, FacoltÃ di Medicina e Chirurgia - Chair of Dermatology, University of Rome, Rome
Ilia Lozev Medical Institute of Ministry of Interior, Department of General, Vascular and Abdominal Surgery, General Skobelev 79, 1606 Sofia

DOI:

https://doi.org/10.3889/oamjms.2018.004

Keywords:

NF1, surgical removal, polyposis ventriculi, neurofibromas, Billroth II

Abstract

BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders. The incidence of gastrointestinal manifestations of NF 1 is relatively low, compared to neurological disorders, presenting approximately in 5 to 25% of the patient, but later in life.

CASE REPORT: We present a patient with NF1, ventricular polyposis and attentional disorders with cognitive phenotype, while both of her daughters also present with cutaneous manifestations of NF1.

CONCLUSION: To the best of our knowledge, this is the first reported case of NF1 with ventricular polyposis as a gastrointestinal manifestation in the mother and NF1 with no signs of inner organ involvement in both of her daughters.

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References

Ferner RE. Neurofibromatosis 1. Eur J Hum Genet. 2007; 15:131-8. https://doi.org/10.1038/sj.ejhg.5201676 PMid:16957683

Maharjan S, Li X, Cui J, Liu Y, Lu L. Lady with wings: a case report of giant neurofibromatosis type I. Medicine (Baltimore). 2017; 96(29):e7523. https://doi.org/10.1097/MD.0000000000007523 PMid:28723766 PMCid:PMC5521906

Wang SY, Tan TJ. A Case of a Patient with Neurofibromatosis Type I Presenting with Abdominal Pain. Ann Acad Med Singapore. 2016; 45(11):524-526. PMid:27922148

Wiener L, Battles H, Bedoya SZ, Baldwin A, Widemann BC, Pao M. Identifying Symptoms of Distress in Youth Living with Neurofibromatosis Type 1 (NF1). J Genet Couns. 2017; 23:1-9. https://doi.org/10.1007/s10897-017-0128-1

Jonas RK, Roh E, Montojo CA, Pacheco LA, Rosser T, Silva AJ, Bearden CE. Risky Decision Making in Neurofibromatosis Type 1: An Exploratory Study. Biol Psychiatry Cogn Neurosci Neuroimaging. 2017; 2(2):170-179. https://doi.org/10.1016/j.bpsc.2016.12.003 PMid:28736755