Rodríguez Velasco A, García G R, Tejeda Vega S, Sjordia Reyes G A, Ferman Cano F, Cantú Cuevas M A
Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, México, D.F.
Rev Invest Clin. 1999 Mar-Apr;51(2):81-7.
Neonatal hemochromatosis is a disease that starts in utero, characterized by severe fibrosis or cirrhosis and siderosis of the liver and other organs without affecting the mononuclear fagocytic system. The most important clinical features are severe hepatic failure at birth and hypoglycemia. The diagnosis is made excluding other diseases more frequently seen in the neonatal period and with at least two of the clinicopathologic criteria delineated by Knisely.
A retrospective analysis of the autopsies of newborn done at the Department of Pathology of the Hospital de Pediatría, C.M.N. SXXI, IMSS, a tertiary care facility in the period 1989 from 1997. Those cases with primarily hepatic disease as the main diagnosis were chosen. The degree of siderosis was determined cualitatively. The amount of Fe and copper in the liver and spleen in samples fixed in formalin was obtained using X ray fluorescence in the Instituto Nacional de Investigaciones Nucleares, two control cases were also tested.
Only four out of 210 autopsies of newborn babies were found to have hepatic disease as a main diagnosis but without an etiology determined. In three of such cases the diagnosis of neonatal hemochromatosis was made. All patients were male with ages six, 29 and 36 days, one with Down's syndrome. The ratio of iron deposits in liver/spleen in hemochromatosis' cases was higher to 1.5 in the liver in contrast to the two control cases.
These cases showed the utility of the autopsy in establishing the adequate diagnosis in three cases of neonatal hemochromatosis. The importance of establishing an accurate diagnosis is to recognize it as an entity with a lethal course, that can be potentially managed with liver transplant as well as genetic counseling to the family. A remarkable finding in the study of these cases was the ratio of iron concentration in the liver and spleen that allowed to discard other causes of siderosis. To our knowledge this finding has never been recorded.
新生儿血色素沉着症是一种始于子宫内的疾病，其特征为肝脏和其他器官出现严重纤维化或肝硬化以及铁沉积，而不影响单核吞噬系统。最重要的临床特征是出生时严重肝功能衰竭和低血糖。诊断需排除新生儿期更常见的其他疾病，并符合Knisely所描述的至少两项临床病理标准。
对墨西哥社会保险局第21综合医院儿科病理科1989年至1997年期间进行的新生儿尸检进行回顾性分析。选择以肝病为主要诊断的病例。定性确定铁沉积程度。在国家核研究所使用X射线荧光法测定福尔马林固定样本中肝脏和脾脏中的铁和铜含量，还检测了两个对照病例。
在210例新生儿尸检中，仅4例以肝病作为主要诊断但病因未明。其中3例诊断为新生儿血色素沉着症。所有患者均为男性，年龄分别为6天、29天和36天，1例患有唐氏综合征。与两个对照病例相比，血色素沉着症病例中肝脏/脾脏中铁沉积的比例在肝脏中高于1.5。
这些病例显示了尸检在确诊3例新生儿血色素沉着症中的作用。准确诊断的重要性在于认识到它是一种具有致命病程的疾病，有可能通过肝移植以及为家庭提供遗传咨询来进行治疗。这些病例研究中的一个显著发现是肝脏和脾脏中铁浓度的比例，这有助于排除其他铁沉积原因。据我们所知，这一发现从未被记录过。
