Berardinelli syndrome. A case report with fatal outcome.
The aim of this paper is to present the main clinical findings and evolution of a fatal case of Berardinelli Syndrome (congenital generalized lipodystrophy). A 15-year-old girl, followed since the age of three months in the Genetic outpatients' clinic, developed insulin resistance when she was eight years old. She had hyperchloremic metabolic acidosis, bilateral retinopathy, proteinuria and hydronephrosis. She was hospitalized several times due to urinary infections. In her last admission she had fever, abdominal pain and was diagnosed urinary sepsis. She presented hemodynamic instability and died, despite all therapeutic measures adopted. Considering the rarity of this syndrome it is important to describe the clinical presentation and evolution of this patient with Berardinelli Syndrome, which developed renal dysfunction and had a fatal outcome.
Daher
Elizabeth
E
Division of Genetics, Hospital Universitário Walter Cantídio, Universidade Federal do Ceará, Fortaleza, CE, Brazil. ef.daher@uol.com.br
Silva Júnior
Geraldo
G
Benevides
Verônica
V
Mendonça
Patrícia
P
Bezerra
Helder
H
Silva
Antônio
A
Fernandes
Virgínia
V
Montenegro Júnior
Renan
R
Azevedo
María de Fátima
MF
D058186:Acute Kidney Injury / Q000209:etiology; D000293:Adolescent; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics; D003930:Diabetic Retinopathy / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D011507:Proteinuria / Q000209:etiology; D011596:Psychomotor Disorders / Q000235:genetics; D014552:Urinary Tract Infections / Q000150:complications