Frontiers in Endocrinology (Jun 2021)

Misdiagnosis of Paget’s Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report

  • Erika Bastos Lima Freire,
  • Erika Bastos Lima Freire,
  • Erika Bastos Lima Freire,
  • Mayara Ponte Madeira,
  • Mayara Ponte Madeira,
  • Mayara Ponte Madeira,
  • Grayce Ellen da Cruz Paiva Lima,
  • Grayce Ellen da Cruz Paiva Lima,
  • Grayce Ellen da Cruz Paiva Lima,
  • Virginia Oliveira Fernandes,
  • Virginia Oliveira Fernandes,
  • Virginia Oliveira Fernandes,
  • Lindenberg Barbosa Aguiar,
  • João Paulo Uchoa Fontenele,
  • Ana Paula Dias Rangel Montenegro,
  • Thyciara Fontenele Marques,
  • Renan Galvão Ozório,
  • Catarina Brasil d’Alva,
  • Catarina Brasil d’Alva,
  • Catarina Brasil d’Alva,
  • Renan Magalhães Montenegro,
  • Renan Magalhães Montenegro,
  • Renan Magalhães Montenegro

DOI
https://doi.org/10.3389/fendo.2021.683697
Journal volume & issue
Vol. 12

Abstract

Read online

Paget’s disease of bone (PDB) is a common skeleton disorder in which the diagnosis is suggested by radiological analyses. Congenital generalized lipodystrophy (CGL) is a rare, but a radiologic differential diagnosis of Paget’s disease. Patients present total or almost total lack of subcutaneous adipose tissue, leptin deficiency, and precocious ectopic lipid accumulation, which lead to intense insulin resistance, poorly controlled diabetes mellitus, and hypertriglyceridemia. CGL subtypes 1 and 2 present sclerosis and osteolytic lesions that can resemble “pagetic” lesions. The clinical correlation is, therefore, essential. We report a CGL patient with bone lesions in which the radiographic findings led to a misdiagnosis of PDB. This case report brings awareness to CGL, a life-threating condition. Its early recognition is essential to avoid clinical complications and premature death. Therefore, it is important to consider CGL as PDB’s differential diagnosis, especially in countries with high prevalence of this rare disease, such as Brazil.

Keywords