A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus

Abstract

Acquired generalized lipodystrophy (AGL) is a rare disorder of adipose tissue characterized by loss of fat from large regions of the body, occurring after birth. Its etiology remains unknown. Most AGL patients have had fasting and/or postprandial hyperinsulinemia, diabetes mellitus, hypertriglyceridemia, and fatty liver. We describe the case of a 30-year-old woman with a progressively unsteady gait and a generalized loss of body fat beginning at the age of 7. Cerebellar degeneration was revealed by imaging study, and the patient was eventually bedridden at the age of 15, due to progressive ataxia. She developed diabetes at the age of 25 without the presence of any evidence of ketoacidosis. The glutamic acid decarboxylase antibody was negative, C-peptide level 3.6 ng/ml, HbA1c 13%, triglyceride 412 mg/dl, total cholesterol 196 mg/dl, high-density lipoprotein-cholesterol 28 mg/dl, adiponectin 0.76 microg/ml, and resistin was 22.8 ng/ml at the initial state of diabetes. AGL accompanied by type 2 diabetes and cerebellar degeneration was diagnosed on the basis of the clinical features and metabolic derangements.

Figure 1

MRI images of the brain. The axial and coronal section (T1WI) showed relative prominence of bilateral cerebellar cortical sulci.

Figure 2

Possible pathogenetic mechanisms of type 2 diabetes mellitus in lipodystrophy. (PPARγ: peroxisomal proliferators-activated receptor γ, TNF-α: tumor necrosis factor-α).