Oei J, Koh T H
Department of Neonatology, Canberra Hospital, Australia.
Int J Clin Pract. 1998 Mar;52(2):125-6.
A potentially difficult situation can arise when a sick newborn baby presents with a common clinical sign that subsequently turns out to be a manifestation of a rare condition. The baby's birth sometimes results in the diagnosis of a new condition in other members of the family. Necrotising enterocolitis is the commonest surgical condition among babies in the neonatal intensive care unit (NICU). We report a case where abdominal distension in an acutely ill baby at high risk of necrotising enterocolitis masqueraded as an unusual presentation of familial sacral agenesis.
当患病新生儿出现一种常见临床体征，而该体征后来被证明是一种罕见疾病的表现时，可能会出现棘手的情况。婴儿出生有时会导致其家族其他成员被诊断出一种新疾病。坏死性小肠结肠炎是新生儿重症监护病房（NICU）中婴儿最常见的需手术治疗的疾病。我们报告一例病例，一名患有坏死性小肠结肠炎高风险的急病婴儿出现腹胀，结果被误诊为家族性骶骨发育不全的罕见表现。
