The aim of this paper is to present the main clinical findings and evolution of a fatal case of Berardinelli Syndrome (congenital generalized lipodystrophy).
Keywords: Berardinelli syndrome, congenital generalized lipodystrophy, insulin resistance.
Considering the rarity of this syndrome it is important to describe the clinical presentation and evolution of a patient with Berardinelli Syndrome.
After an authorization was given by the parents of the patient, we report a fatal case of Berardinelli Syndrome.
Berardinelli Syndrome is an autonomic recessive disease, with mutation in the gene which codifies the AGPAC II protein, in the chromosome 9 (9834), and in the SEIPIN gene, which codifies the seipin protein, in the chromosome 11813 (1, 8).
The patient presented here was diagnosed as having Berardinelli Syndrome when she was eight years old.
The course of diabetes among women with Berardinelli Syndrome may be dramatic when combined with early complications (retinopathy, nephropathy and cardiovascular events).
Some kinds of nephropathies can be seen in Berardinelli Syndrome and are mainly due to complications of anabolic processes, diabetes or hyperlipidemia.
Patients with Berardinelli Syndrome must have a multidisciplinary follow-up.
Berardinelli Syndrome is a rare disease which causes important metabolic abnormalities, which can complicate and have a fatal outcome if optimal therapeutic and preventive measures are not adopted.