Department of Pediatrics, Ayub Medical College, Abbottabad, Pakistan.
Children Mercy Hospital and Clinics, Kansas City, United States.
J Ayub Med Coll Abbottabad. 2020 Oct-Dec;32(4):577-579.
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.
伯-塞二氏综合征是一种罕见的疾病,与脂肪组织丧失有关,导致碳水化合物和脂质代谢紊乱,出现多种表现。目前尚无治愈方法,其治疗方法包括低脂饮食、二甲双胍和瘦素替代疗法,旨在预防并发症。我们报告了一名来自阿富汗的男性儿童的这种综合征。