ESPE Abstracts

Introduction: Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes and dyslipidemia. Congenital Generalized Lipodystrophy is a rare autosomal recessive genetic desease that presents early, at birth or just after. The estimated prevalence ranges from 1 in a millon to 1 in 10 millon individual in the general population.

Aim: To describe a case of Down syndrome and Congenital Generalized Lipodystrophy

Case Report: Male patient with Down Syndrome, 2 years, referred by the Nutrition service for mild hyperglycemia, hypertriglyceridemia, lipoatrophy with acromegaloid features and Left hypertrophic cardiomyopathy.

Physical examination:

- Weight: 12.7 kg (p.95)

- Height: 88.9 cm (p.97)

- BMI: 16 kg/m²

- Prepubertal

- Macroglossia

Absence of generalized subcutaneous cellular tissue, muscle hypertrophy. Mild acanthosis of the neck.

Complementary tests:

Laboratory: Normal hemogram, normal renal function, blood glucose 81 mg/dl, postprandial blood glucose 109 mg/d, Hba1c 5.7%, Insulin 27.8 uU/ml. Hepatogram: Cholesterol 112 mg/dl, triglycerides 241 mg/dl, LDL cholesterol 59 mg/dl, HDL cholesterol 18 mg/dl - GOT 42 IU/l - GPT 66 IU/l - Amylase normal

Leptin dosage: < 0.4 mg/ml (normal value according to BMI: 0.4-0.6)

Abdominal ultrasound: homogeneous hepatomegaly, with increased echogenicity.

Diagnosis: Generalized congenital lipodystrophy.

Metreleptin was prescribed which could not be started yet.

Molecular biology: reported a probably pathogenic variant in the BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 Protein) (BSCL2) gene associated with congenital generalized lipodystrophy type 2, with autosomal recessive inheritance.

NM¬_001122955.4:c:414_415del-415del-p.(Cys138fsTer)

At 4 years of age, primary acquired hypothyroidism was diagnosed and treatment.

At the age of 6 years and 10 months he presented a surgery and presented hyperglycemia that required correction with insulin, and Diabetes mellitus was diagnosed.

Conclusion: It is necessary to recognize this condition to establish multidisciplinary management. Taking into account the early age at complications appear, we should try to start treatment with metreleptin as soon as possible. A curative therapy is not avaible so far, replacement with metreleptin has demonstrated to be effective in reaching glucose and lipid control. As far as we know this is the first case with Down Syndrome and Congenital lipodystropy.