Outcome of abdominal ultrasound findings in a girl with congenital generalized lipodistrophy (Berardinelli Seip syndrome) – case report

Aim: To present the particular spectrum of ultrasonographic aspects evidentiated in a girl with a rare congenital disease associated with generalized loss of fatty tissue. Material and method: We reviewed the ultrasonographic changes in a 9.3 years-old girl who was monitored from 2.5 years up to present in our hospital for Berardinelli Seip syndrome. In evolution, physical exammination revealed: undernutrition (BMI=14.25) generalized loss of subcutaneous fat, pseudoacromegaly with coarse facial features, skin pigmentation with acanthosis nigricans, proeminent superficial veins, hypertrichosis, thick and curly sc…