Background: The lipodystrophy syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue (lipoatrophy). Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalised lipodystrophy since birth, insulin resistance, and dyslipemia since early infancy.
Case presentation: We report a 6-year-old girl who arrived from Pakistan with the diagnosis of diabetes mellitus. She was the third baby, parental consanguinity was described in father grandparents. Antenatal and neonatal period was uneventful, adequate somatometry at birth was report. Almost from birth she presented generalized absence of fat and a prominent abdomen. Since the year before polyuria and polydipsia appeared, starting at that time with subcutaneous insulin. Clinical features: weight and stature were <P10, absent of adipose tissue almost completely except on mouth, palms, soles, and scalp. Protuberant abdomen due to 7 cm hepatomegaly. Acanthosis nigricans was present and a systolic murmur in aortic focus was listened. Biochemical analyses: glucose 14.8 mmol/l, normal total cholesterol concentration with low serum HDL, triglyceride 4.96 mmol/l, HbA1c 12%, insulin 5.3 μU/ml, and leptin 1.7 ng/ml. Gene mutation: AGPAT2 c.755_763delTGAGGACCA. After a year serum triglyceride raised to 6.45 mmol/l, glucose 16.6 mmol/l, and HbA1c 13.6%. Human recombinant leptin replacement was initiated as compassionate use by our reference hospital in Spain. Initial dosage was 0.87 mg/24 h, maximum 1.8 mg/24 h. After a year of treatment glucose serum levels decreased to 7.55 mmol/l, HbA1c 6.3%, and triglyceride levels 1.13 mmol/l. Leptin levels raised to 26.5 ng/ml. Stature increased up to ten percentiles and abdominal circumference decreased 6.5 cm. Appetite reduction was de unique adverse effect objectived.
Conclusion: Human recombinant leptin is effective for controlling diabetes, hypertriglyceridemia and hepatic steatosis. Positive effects are notorious since the beginning of the treatment. No remarkable adverse effects where observed.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology