French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations.

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.

[The morphological determination of immune reactivity in coniotuberculosis]. / Morfologicheskoe opredelenie immunnoi reaktivnosti pri koniotuberkuleze.

A study was performed on the immune reactivity of coniotuberculosis cases among iron-ore miners from initial to developed stages by means of a postmortem morphometric analysis of the pathologic changes. It was revealed that the disease was characterized by a marked decrease in immune reactivity which progressed along with the disease. It was established that the process was influenced by the age, the ferrum oxide (III) and cremnium dioxide content in the lungs, and the TB infection as such. Much influence was also caused by other sporadic environmental factors.

Angiosarcoma with pulmonary siderosis and persistent reticulocytosis. Steroid responsiveness suggests an immune basis.

A 35-year old man with cough, hemoptysis, and dyspnea was found to have diffuse pulmonary infiltrates and iron-laden macrophages in the sputum. Pulmonary siderosis was confirmed by transbronchial biopsy. An associated hypochromic anemia required frequent transfusion. Though marrow iron stores were absent, reticulocytosis was maintained. Corticosteroid therapy resulted in cessation of hemoptysis, clearing of the pulmonary infiltration, and a substantial reduction in transfusion requirement. Splenectomy was of no benefit. The patient developed cerebral symptoms with seizures, and rapid deterioration led to cerebral symptoms with seizures, and rapid deterioration led to death. Disseminated hemangiosarcoma was found at autopsy. Steroid responsiveness of the associated pulmonary siderosis suggests that it had an immune basis.