Bruni Laura, Cassio Alessandra, Di Natale Valeria, Baronio Federico, Ortolano Rita, Pession Andrea, Piraccini Bianca Maria, Neri Iria
Specialty School of Pediatrics-Alma Mater Studiorum, University of Bologna, 40126 Bologna, Italy.
Department of Medical & Surgical Sciences, University of Bologna, 40138 Bologna, Italy.
Children (Basel). 2023 Aug 31;10(9):1491. doi: 10.3390/children10091491.
An infant with a prenatal diagnosis of citrullinemia, who started standard treatment at birth (L-arginine; sodium benzoate and a personalized diet characterized by a low protein intake and supplementation of essential nutrients and amino acids), presented at 4 months of age with extended, progressive, and severe skin lesions consistent with acrodermatitis dysmetabolica. Guidelines for the diagnosis and management of urea cycle disorders underline that a low-protein diet places patients at risk of essential fatty acids, trace elements, and vitamin deficiency. At hospital admission, our patient had normal levels of zinc and alkaline phosphatases. The plasmatic amino acid profile revealed a severe and generalized deficiency. In particular, the serum levels of arginine, valine, and isoleucine were very low and the dermatitis did not improve until the blood levels of these amino acids increased. In our patient, skin lesions happened despite an early diagnosis of citrullinemia and timely treatment due to compliance issues as a consequence of linguistic barriers.
一名产前诊断为瓜氨酸血症的婴儿，出生时即开始标准治疗（L-精氨酸、苯甲酸钠以及以低蛋白摄入、补充必需营养素和氨基酸为特点的个性化饮食），4个月大时出现与代谢紊乱性肢端皮炎一致的广泛性、进行性和严重皮肤病变。尿素循环障碍的诊断和管理指南强调，低蛋白饮食会使患者面临必需脂肪酸、微量元素和维生素缺乏的风险。入院时，我们的患者锌和碱性磷酸酶水平正常。血浆氨基酸谱显示严重且全身性缺乏。特别是，精氨酸、缬氨酸和异亮氨酸的血清水平非常低，直到这些氨基酸的血液水平升高，皮炎才有所改善。在我们的患者中，尽管早期诊断出瓜氨酸血症并及时治疗，但由于语言障碍导致依从性问题，仍出现了皮肤病变。
