Collardeau-Frachon Sophie, Heissat Sophie, Bouvier Raymonde, Fabre Monique, Baruteau Julien, Broue Pierre, Cordier Marie-Pierre, Debray Dominique, Debiec Hanna, Ronco Pierre, Guigonis Vincent
Department of Pathology, Hôpital Femme-Mère-Enfant, HCL and University Claude Bernard, Lyon, France.
Pediatr Dev Pathol. 2012 Nov-Dec;15(6):450-70. doi: 10.2350/12-02-1155-OA.1. Epub 2012 Aug 17.
Neonatal hemochromatosis is a rare disease that causes fetal loss and neonatal death in the 1st weeks of life and is one of the most common causes of liver failure in the neonate. The diagnosis is mostly made retrospectively, based on histopathologic features of severe liver fibrosis associated with hepatic and extrahepatic siderosis. Several etiologies may underlie this phenotype, including a recently hypothesized gestational alloimmune disease. Fifty-one cases of liver failure with intrahepatic siderosis in fetuses and neonates were analyzed retrospectively. Maternal and infant data were collected from hospitalization and autopsy reports. All available slides were reviewed independently by 3 pathologists. Immunologic studies were performed on maternal sera collected immediately after delivery. The diagnosis of neonatal haemochromatosis was retained in 33 cases, including 1 case with Down syndrome and 1 case with myofibromas. Liver siderosis was inversely proportional to fibrosis progression. In fetuses, iron storage was more frequent in the thyroid than in the pancreas. Perls staining in labial salivary glands was positive in 1 of 5 cases. Abnormal low signal intensity by magnetic resonance imaging was detected in the pancreas in 2 of 7 cases. Renal tubular dysgenesis was observed in 7 of 23 autopsy cases. Chronic villitis was seen in 7 of 15 placentas. Half of the mothers presented with an autoimmune background and/or autoantibodies in their sera. Our work highlights the importance of autopsy in cases of neonatal hemochromatosis and marshals additional data in support of the hypothesis that neonatal hemochromatosis could reflect maternal immune system dysregulation.
新生儿血色沉着症是一种罕见疾病，可导致胎儿丢失及新生儿在出生后第一周内死亡，是新生儿肝衰竭最常见的病因之一。诊断大多是回顾性的，基于与肝内外铁质沉着相关的严重肝纤维化的组织病理学特征。几种病因可能导致这种表型，包括最近提出的一种妊娠性同种免疫疾病假说。对51例胎儿和新生儿肝内铁质沉着伴肝衰竭的病例进行了回顾性分析。从住院和尸检报告中收集母婴数据。所有可用切片由3名病理学家独立复查。对分娩后立即采集的母血进行免疫研究。33例确诊为新生儿血色沉着症，其中1例患有唐氏综合征，1例患有肌纤维瘤。肝脏铁质沉着与纤维化进展呈负相关。在胎儿中，甲状腺的铁储存比胰腺更常见。5例唇唾液腺的普鲁士蓝染色中有1例呈阳性。7例中有2例通过磁共振成像检测到胰腺低信号强度异常。23例尸检病例中有7例观察到肾小管发育不全。15例胎盘中有7例可见慢性绒毛炎。半数母亲血清中存在自身免疫背景和/或自身抗体。我们的研究强调了新生儿血色沉着症病例尸检的重要性，并收集了更多数据以支持新生儿血色沉着症可能反映母体免疫系统失调这一假说。
