Berardinelli–Seip syndrome: highlight of treatment challenge

Abstract

Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare autosomal-recessive disease characterised by lipoatrophy and associated with deregulations of glycidic and lipid metabolism. We report three BSCL cases with its typical clinical picture and complications. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. Two cases present attention deficit hyperactivity and developmental learning disorders; another patient has hypertrophic myocardiopathy and polycystic ovary syndrome. In all the cases AGPAT2 was the identified mutation. All the cases present hypertriglyceridemia. One case has developed hyperinsulinism controlled with metformin and another case already has type 2 diabetes with a difficult clinical control. There is no curative treatment and the current treatment options are based only on symptomatic control of the complications. Recently, published studies showed that leptin-replacement therapy appears a promising tool in the metabolic correction of BSCL complications, highlighting the importance of further investigations in BSCL treatment.

Delayed Presentation of Berardinelli-Siep Lipodystrophy in an Adolescent Female

“… 2 Case reports have mentioned associations with learning disorders, attention deficit hyperactivity, hypertrophic cardiomyopathy, and PCOS. 3 Though the patient did not participate in special education with evident learning disabilities, she did exhibit signs of social immaturity and slowed, age-inappropriate verbal communication. Intrafamilial variations in intellectual manifestations are common.…”

Berardinelli’s Syndrome- Anaesthetic Considerations

“…Propofol induction and maintenance with sevoflurane was done anticipating the risk of delayed awakening in hypertriglyceridemia. [5], [6] Ferraria [7] et al suggested symptomatic control of complications to slow down life-threatening progression of the disease. They reported the follow up of cases presented at infancy with hypertension and cardiac hypertrophy, developed hepatomegaly, acromegaly and acanthosis nigricans at 5 years followed by lipoatrophy and muscle hypertrophy by 11 years.…”

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction

“…After manual retrieving and detailed reading of the studies, 341 cases with different ethnic background from 60 studies were collected (female: 56.9%, male: 43.1%). Since the mutations in CAV1 or PTRF concern a minority of patients and the alterations in AGPAT2 or BSCL2 are responsible for the majority of BSCL cases (about 95% of cases) [23],our study was only focused on those cases with mutations on AGPAT2 and BSCL2 (total 251) to perform genotype-phenotype analyses (Supplementary Table 1) [3,8,12,20,.…”