A RARE CASE OF BERARDINELLI SEIP SYNDROME

Saima Bibi, Danish Balti, Khyal Mohammad, Attiya Iqbal, Saima Gillani, Tahir Saeed Siddiqui, Ghufran Babar, Syed Yasir Hussain Gillani

Abstract


Berardinelli Seip Syndrome is a rare disorder associated with loss of adipose tissue leading to a myriad of findings owing to derangements of carbohydrate and lipid metabolism. There is no cure and the management comprising low fat diet, metformin and leptin replacement is aimed at preventing complications. We report this syndrome in a male child from Afghanistan.

Keywords: Lipodystrophy; leptin; hepatomegaly


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References


Maeda M, Maeda T, Ebihara K, Ihara K. The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years. Clin Pediatr Endocrinol 2019;28(4):139–45.

Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab 1954;14(2):193–204.

Seip M, Trygstad O. Generalized lipodystrophy. Arch Dis Child 1963;38(201):447–53.

Chiquette E, Oral EA, Garg A, Araujo-Vilar D, Dhankhar P. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes 2017:375–83.

Ferraria N, Pedrosa C, Amaral D, Lopes L. Berardinelli-Seip syndrome: highlight of treatment challenge. BMJ Case Rep 2013;2013:bcr2012007734.

Beltrand J, Beregszaszi M, Chevenne D, Sebag G, Kerdanet MD, Huet F, et al. Metabolic correction induced by leptin replacement treatment in young children with Berardinelli–Seip congenital lipoatrophy. Pediatrics 2007;120(2):291–6.

Cheema HA, Malik HS, Waheed N, Mushtaq I, Fayyaz Z, Anjum MN. Berardinelli-Seip Congenital Generalised Lipodystrophy. J Coll Physicians Surg Pak 2018;28(5):406–8.

Arif A, Afzal MF, Hamid MH. Berardinelli-Seip Syndrome: A Rare Autosomal Disorder. Ann King Edward Med Univ 2019;25(3):1–3.

Gomes K, Pardin V, Fernandes A. Clinical and molecular aspects of Berardinelli–Seip congenital lipodystrophy (BSCL). Clin Chim Acta 2009;402(1-2):1–6.

Brown RJ, Meehan CA, Gorden P. Leptin does not mediate hypertension associated with human obesity. Cell 2015;162(3):465–6.

Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab 2016;101(12):4500–11.

Brown RJ, Meehan CA, Cochran E, Rother KI, Kleiner DE, Walter M, et al. Effects of Metreleptin in Pediatric Patients with Lipodystrophy. J Clin Endocrinol Metab 2017;102(5):1511–9.


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