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

Abstract

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: Berardinelli-Seip syndrome; Bone; Lipodystrophy; Paget’s Disease of bone; case report; congenital generalized Lipodystrophy patient.

Figure 1

(A) Normal skull radiography. (B) Anteroposterior radiography of the pelvis Symmetric radiolucency with cystic aspect in greater trochanter bilaterally. (C) Anteroposterior radiography of upper limbs- heterogeneous bone density in humeral heads bilaterally with the presence of sclerosis and radiolucent areas. (D) Anteroposterior radiography of lower limbs-pseudo-poikilosis (patchy sclerotic lesions) and radiolucency in distal metaphysis of right and left femur and in proximal region of tibia bilaterally.

Figure 2

Bone tissue with signs of remodeling. HE stain, magnification 200×… See cement lines (arrows).