Gagliano Chiara, Burattini Olga, Paradisi Luigi, Recchione Sarah, Santoro Lucia, Caponi Laura, Ciaschini Annamaria, Lionetti Maria Elena, Gatti Simona
Department of Pediatrics, University Polytechnic of Marche, Ancona, Italy.
Laboratory of Medical Genetics, Azienda Ospedaliero Universitaria Delle Marche, Ancona, Italy.
Front Pediatr. 2025 Apr 4;13:1562573. doi: 10.3389/fped.2025.1562573. eCollection 2025.
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment. We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk interruption syndrome and consequent hypopituitarism. The cholestasis was rapidly resolved with hormone therapy. Genetic analysis showed a 17q chromosome deletion, including the gene implicated in liver damage, and this was considered causative of the complex clinical phenotype. Our case highlights the relationship between congenital hypopituitarism and gene deletion in 17q12 deletion syndrome as a severe neonatal cholestasis etiology, emphasizing the need to be especially vigilant in cases with associated hypoglycemia. Prompt endocrine evaluation and genetic testing are crucial in neonatal cholestasis to start targeted therapy and long-term monitoring, which could mitigate serious complications.
新生儿胆汁淤积可由多种情况引起，其中胆道闭锁是主要原因。遗传和内分泌病因是其他可能因素，其中大多数需要快速诊断和特定治疗。我们描述了一名患有严重胆汁淤积且γ-谷氨酰转移酶水平低的新生儿病例，该患儿伴有多种异常，包括垂体柄中断综合征及由此导致的垂体功能减退。胆汁淤积通过激素治疗迅速得到缓解。基因分析显示17号染色体q区域缺失，包括与肝损伤相关的基因，这被认为是导致复杂临床表型的原因。我们的病例突出了先天性垂体功能减退与17q12缺失综合征中的基因缺失之间的关系，后者是严重新生儿胆汁淤积的病因，强调在伴有低血糖的病例中尤其需要警惕。在新生儿胆汁淤积中，及时进行内分泌评估和基因检测对于启动靶向治疗和长期监测至关重要，这可以减轻严重并发症。
