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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....

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Autores principales: Momanu, Alina, Caba, Lavinia, Gorduza, Nicoleta Carmen, Arhire, Oana Elena, Popa, Alina Delia, Ianole, Victor, Gorduza, Eusebiu Vlad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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