Khadora Manal Mustafa, Al Dubayee Mohammad
Department of Paediatrics, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
Department of Paediatrics, College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
BMJ Case Rep. 2014 Nov 24;2014:bcr2014206725. doi: 10.1136/bcr-2014-206725.
Neonatal Graves' disease is a rare disorder seen in 1 in 25,000 births and in 1% of the offspring of mothers with either established or cured Graves' disease. This is due to transplacental passage of thyroid-stimulating immunoglobulins (TSIs). A higher TSI titre in maternal serum makes hyperthyroidism more likely in the fetus or newborn; however, not all fetuses born by women with positive TSIs develop overt hyperthyroidism. In spite of its rarity, its serious nature (if not treated) and its association with multisystem abnormalities justifies careful clinical screening and management. We report a preterm 30 weeks neonate with neonatal thyrotoxicosis secondary to untreated maternal Graves' disease who, in addition to the typical hyperthyroidism symptoms, had unusual metabolic associations of neonatal cholestasis and hyperammonaemia. The patient was treated accordingly with a good response. This report supports previous reports on the association between neonatal hyperthyroidism and cholestatic liver disease. However, it is the second case report to describe the unusual association of hyperammonaemia and neonatal Graves' disease.
新生儿Graves病是一种罕见的疾病，在25000例出生中出现1例，在患有已确诊或已治愈的Graves病的母亲的后代中占1%。这是由于促甲状腺素免疫球蛋白（TSIs）经胎盘传递所致。母体血清中TSI滴度较高会使胎儿或新生儿更易发生甲状腺功能亢进；然而，并非所有TSIs呈阳性的女性所生的胎儿都会出现明显的甲状腺功能亢进。尽管该病罕见，但其严重的性质（若不治疗）以及与多系统异常的关联证明了进行仔细的临床筛查和管理是合理的。我们报告一例30周早产的新生儿，继发于未治疗的母体Graves病的新生儿甲状腺毒症，除典型的甲状腺功能亢进症状外，还伴有新生儿胆汁淤积和高氨血症这种不寻常的代谢关联。该患者接受了相应治疗，反应良好。本报告支持了先前关于新生儿甲状腺功能亢进与胆汁淤积性肝病之间关联的报告。然而，这是第二例描述高氨血症与新生儿Graves病不寻常关联的病例报告。
