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Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by the absence of adipose tissue and severe insulin resistance resulting in severe hypertriglyceridemia and eventually diabetes at puberty. We report for the first time, the occurrence of those metabolic abnormalities in the first months of life in 4 children affected by BSCL carrying mutations in AGPAT2. BSCL diagnosis was established in 1 girl and 3 boys of Caucasian (n=l) or African (n=3) origin at the age of 28 days, 2, 3 and 4.5 months. The first signs of the disease were generalized lipoatrophy (n=2), multiple adenopathies (n=1) and generalized xanthomatosis (n=1). All patients had generalized lipoatrophy, muscular hypertrophy, axial or peripheral hypertonia, hepatomegaly, left ventricular hypertrophy and hyperinsulinism. The length was normal at birth, but accelerated precociously leading to a mean length of +2.5 ± 0.37 SD at 6 months. These children presented severe alterations of the glucid and lipid metabolisms at the diagnosis of BSCL with permanent hyperglycemia (>25 mM/L) without ketosis (n=2), and/or hypertriglyceridemia (3.8-36 mM/L) (n=4). The Glucose and triglyceride levels recovered at the age of 8, 13, 16 and 24 months, with (n=3) or without (n=1) dietetic care. The 4 patients harbour a homozygous null mutation in AGPAT2: at the intron 4 acceptor splice site (IVS4-2A>G) (n=3), or in exon 2 (Arg 68X). Children affected by BSCL linked to AGPAT2 mutation have very early in life alterations of the glucido-lipidic metabolisms that must be detected. These alterations seemed to be transient (normalization before the age of 2 years), so the efficacy of the dietetic treatment could not be established. The acceleration of the growth velocity (as the one observed in puberty) may increase the metabolic demand leading to biological alterations. The follow up of our patients will elucidate if the early dietetic care yields changes for their metabolic prognosis. [ABSTRACT FROM AUTHOR]

Increasing awareness of the heterogeneity of diabetes mellitus (DM) at presentation is changing our approach to this disease. We used the American Diabetes Association (ADA) criteria to determine the distribution of DM patterns in a large pediatric cohort, with the aim of documenting the emergence of type 2 diabetes mellitus. Charts of diabetic children aged 1 to 16 years and admitted to our center between 1993 and 1998 were reviewed for data needed to classify the type of diabetes mellitus. They were compared with the charts of diabetic children admitted to our center in 2001. During the first period, 370 children were admitted for diabetes, and type 2 diabetes was diagnosed in 8 cases. In 2001, 90 children were admitted for diabetes, of whom 5 were diagnosed with type 2 diabetes. The incidence of type 2 diabetes in France remains relatively low. Even though our data seem to indicate a slight increase, they are far below the figures reported by American pediatricians. However, cases in France are marked by major obesity. With the increase in childhood obesity in France, the incidence of type 2 diabetes may eventually rise to North American levels.