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Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review
Gorham-Stout disease is a rare disorder, which may result in a poor prognosis. This disease, a rare lymphangiomatosis, is defined by progressive bone disappearance due to massive unicentric and multicentric osteolysis. Osteolytic lesions of the spine and pleura effusion are poor prognostic factors....
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304881/ https://www.ncbi.nlm.nih.gov/pubmed/34356962 http://dx.doi.org/10.3390/medicina57070681 |
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author | Momanu, Alina Caba, Lavinia Gorduza, Nicoleta Carmen Arhire, Oana Elena Popa, Alina Delia Ianole, Victor Gorduza, Eusebiu Vlad |
author_facet | Momanu, Alina Caba, Lavinia Gorduza, Nicoleta Carmen Arhire, Oana Elena Popa, Alina Delia Ianole, Victor Gorduza, Eusebiu Vlad |
author_sort | Momanu, Alina |
collection | PubMed |
description | Gorham-Stout disease is a rare disorder, which may result in a poor prognosis. This disease, a rare lymphangiomatosis, is defined by progressive bone disappearance due to massive unicentric and multicentric osteolysis. Osteolytic lesions of the spine and pleura effusion are poor prognostic factors. Herein, we will present a case where the onset of disease occurred at the age of 18 with asthenia, myalgia, and major bone pain, followed by incomplete motor deficiency in the lower limbs and, later, in the upper limbs. Imaging studies (CT scan and MRI) of the patient revealed osteolytic lesions (cervical and thoracic vertebrae, rib, and clavicle) and a pathological fracture of the C7 vertebra. Surgical procedures undertaken involved replacing the affected vertebrae with bone grafting and prosthesis. The investigations performed allowed for the exclusion of inflammation, thyroid or parathyroid disease, lymphoma, neoplasia, or autoimmune disorders. A bone marrow biopsy showed osteolysis, the replacement of bone tissues with connective tissue, and chronic non-specific inflammation. The evolution was negative with almost complete osteolysis of the left clavicle, the emergence of new osteolysis areas in the lumbar vertebrae, pelvic bones, and the bilateral proximal femur, splenic nodules, chylothorax, and associated major neurological deficits. Unfortunately, this negative evolution resulted in the patient’s death a year after onset. |
format | Online Article Text |
id | pubmed-8304881 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-83048812021-07-25 Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review Momanu, Alina Caba, Lavinia Gorduza, Nicoleta Carmen Arhire, Oana Elena Popa, Alina Delia Ianole, Victor Gorduza, Eusebiu Vlad Medicina (Kaunas) Case Report Gorham-Stout disease is a rare disorder, which may result in a poor prognosis. This disease, a rare lymphangiomatosis, is defined by progressive bone disappearance due to massive unicentric and multicentric osteolysis. Osteolytic lesions of the spine and pleura effusion are poor prognostic factors. Herein, we will present a case where the onset of disease occurred at the age of 18 with asthenia, myalgia, and major bone pain, followed by incomplete motor deficiency in the lower limbs and, later, in the upper limbs. Imaging studies (CT scan and MRI) of the patient revealed osteolytic lesions (cervical and thoracic vertebrae, rib, and clavicle) and a pathological fracture of the C7 vertebra. Surgical procedures undertaken involved replacing the affected vertebrae with bone grafting and prosthesis. The investigations performed allowed for the exclusion of inflammation, thyroid or parathyroid disease, lymphoma, neoplasia, or autoimmune disorders. A bone marrow biopsy showed osteolysis, the replacement of bone tissues with connective tissue, and chronic non-specific inflammation. The evolution was negative with almost complete osteolysis of the left clavicle, the emergence of new osteolysis areas in the lumbar vertebrae, pelvic bones, and the bilateral proximal femur, splenic nodules, chylothorax, and associated major neurological deficits. Unfortunately, this negative evolution resulted in the patient’s death a year after onset. MDPI 2021-07-02 /pmc/articles/PMC8304881/ /pubmed/34356962 http://dx.doi.org/10.3390/medicina57070681 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Momanu, Alina Caba, Lavinia Gorduza, Nicoleta Carmen Arhire, Oana Elena Popa, Alina Delia Ianole, Victor Gorduza, Eusebiu Vlad Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review |
title | Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review |
title_full | Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review |
title_fullStr | Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review |
title_full_unstemmed | Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review |
title_short | Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review |
title_sort | gorham-stout disease with multiple bone involvement—challenging diagnosis of a rare disease and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304881/ https://www.ncbi.nlm.nih.gov/pubmed/34356962 http://dx.doi.org/10.3390/medicina57070681 |
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