Marzouk Asma, Jelalia Nour, Mzoughi Oumayma, Ayeb Saad, Thebti Rahma, Bouaziz Asma
University El Manar, Faculty of Medecine of Tunis. Pediatrics and Neonatology departement, Yasminette Ben Arous, Tunisia.
Tunis Med. 2024 Dec 5;102(12):1084-1088. doi: 10.62438/tunismed.v102i12.4494.
Dyslipidemia in infants is a rare condition characterized by abnormal levels of lipids in the blood, such as cholesterol and triglycerides. Early diagnosis poses a challenge due to nonspecific symptoms and lipid criteria differing from adults. Through two clinical cases of familial dyslipidemia (Type 1 Familial Hypercholesterolemia and Type 2b Combined Familial Hyperlipidemia), we highlight the diagnostic and therapeutic challenges encountered in infants, emphasizing the importance of a multidisciplinary approach in care and early screening. In the first case, a 3-month-old boy with a family history of dyslipidemia was diagnosed during bronchiolitis, revealing milky serum, pseudohyponatremia, and abnormal lipid profile. His Type 1 familial hyperlipidemia was confirmed by lipid electrophoresis. Despite dietary management and breastfeeding, he developed severe pancreatitis, successfully treated with intensive care. The second case involved a girl who presented at 3 months with vomiting and irritability. Laboratory tests indicated pseudohyponatremia, hematologic abnormalities, and lipid disturbances. Her Type 2b familial hyperlipidemia was confirmed by lipid electrophoresis. She responded well to a specialized diet, experiencing few pancreatitis episodes without meeting clinical or radiological severity criteria.
婴儿血脂异常是一种罕见病症，其特征为血液中脂质水平异常，如胆固醇和甘油三酯。由于症状不具特异性且血脂标准与成人不同，早期诊断颇具挑战。通过两例家族性血脂异常（1型家族性高胆固醇血症和2b型家族性混合型高脂血症）的临床病例，我们突出了婴儿在诊断和治疗方面遇到的挑战，强调了多学科护理方法及早期筛查的重要性。在第一个病例中，一名有血脂异常家族史的3个月大男婴在患细支气管炎期间被诊断出患有此病，其血清呈乳状、存在假性低钠血症且血脂谱异常。通过血脂电泳确诊为1型家族性高胆固醇血症。尽管进行了饮食管理并采用母乳喂养，但他仍患上了严重胰腺炎，经重症监护成功治愈。第二个病例是一名3个月大出现呕吐和易怒症状的女孩。实验室检查显示有假性低钠血症、血液学异常和血脂紊乱。通过血脂电泳确诊为2b型家族性高脂血症。她对特殊饮食反应良好，未出现符合临床或放射学严重程度标准的胰腺炎发作情况。
