Neonatal Hemosiderosis

Alpha thalassemia, the most common genetic disorder of hemoglobin synthesis, affects up to 5% of the world's population. It represents a group of conditions with reduced or absent synthesis of one to all four of alpha globin genes. Deletional or nondeletional mutations occur on chromosome 16. Its severity ranges from asymptomatic to fatal in utero. Hemoglobin H disease, a mutation of three alpha globin genes, is more severe than previously recognized. Anemia, hypersplenism, hemosiderosis, growth failure, and osteoporosis are commonly noted as the patient ages...

Liver failure in neonates is a rare but often fatal disease. Trisomy 21 is not usually associated with significant infantile liver disease. If present, hepatic dysfunction in an infant with Trisomy 21 is likely to be attributed to transient myeloproliferative disorder with hepatic infiltration by hematopoietic elements and may be associated with secondary hemosiderosis. A less commonly recognized cause of liver failure in neonates with Trisomy 21 is neonatal hemochromatosis (NH); this association has been reported in nine cases of Trisomy 21 in literature...

AIMS: To ascertain the incidence and to review the obstetric and neonatal correlates of placental haemosiderosis. Secondly, to determine if placental haemosiderosis is due to blood contamination during placental handling. METHODS: One hundred consecutive singleton placentas with and 113 consecutive singleton placentas from uncomplicated pregnancies without an indication for pathological examination were stained for iron to detect haemosiderosis in the membranes, chorionic plate and/or basal plate...

UNLABELLED: We aimed at determining the pattern of liver disease in the Iranian children referred to the Medical Center of Children affiliated with the Tehran University of Medical Sciences. MATERIALS AND METHODS: In a cross-sectional study conducted over 2 years, 425 liver needle biopsies were sent to the pathology laboratory of our center. Slides were prepared from paraffin-embedded blocks, stained by routine H & E and special stains and were then reviewed. The frequency of each disorder, separately and in combination with the age group or gender of the patients was calculated and compared with other similar studies...

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Neonatal hemochromatosis (NH) is a severe disease of fetal or perinatal onset, in which iron deposition occurs within hepatic and extrahepatic sites without involving the reticuloendothelial system. Labial minor salivary gland biopsy has been suggested as a diagnostic adjunct in patients suspected of having NH, as hemosiderin accumulates in acinar epithelial cells. Prior to this salivary gland pathology, a diagnosis of NH was often delayed, rendered only after the usual causes of neonatal liver failure had been excluded...

AIM: To clarify the clinical features of pregnancy and neonatal respiratory problems associated with diffuse chorioamniotic hemosiderosis (DCH). METHODS: Sixteen singleton cases of DCH without chorioamnionitis (CAM) were retrospectively analyzed and compared with gestation- and birthweight-matched controls (32 cases of CAM and 32 cases of non-DCH-non-CAM). Maternal symptoms and respiratory problems of the infants were investigated. RESULTS: All 16 cases with DCH resulted in preterm delivery from 23 to 35 weeks' gestation...

Idiopathic pulmonary hemosiderosis is a rare disorder that results in significant anemia and pulmonary compromise. The case of a patient with new onset of disease diagnosed during labor is presented, and after urgent cesarean delivery, both the neonate and the mother survived. The anesthetic implications of a parturient with idiopathic pulmonary hemosiderosis, including monitoring, preoperative evaluation, and perioperative care, are discussed.

OBJECTIVE: Our purpose was to examine the significance of diffuse chorioamniotic hemosiderosis (DCH) on neonatal morbidity and mortality. METHODS: Using data from a retrospective case-control study, we analyzed 46 singleton placentas with DCH from infants who were delivered and/or admitted to the neonatal intensive care unit of Kanagawa Children's Medical Center during 1987-2001 and 92 control placentas without DCH from infants of comparable gestational age, birth weight, and duration...

To determine whether increased levels of VEGF disrupt postnatal lung formation or function, conditional transgenic mice in which VEGF 164 expression was enhanced in respiratory epithelial cells were produced. VEGF expression was induced in the lungs of VEGF transgenic pups with doxycycline from postnatal day 1 through 2 and 6 wk of age. VEGF levels were higher in bronchoalveolar lavage fluid (BALF) and lung homogenates of VEGF transgenic mice compared with endogenous VEGF levels in controls. Neonatal mortality was increased by 50% in VEGF transgenic mice...

No abstract text is available yet for this article.

GRACILE syndrome (Fellman syndrome, MIM 603358), an autosomal recessive metabolic disorder of the Finnish disease heritage, has been diagnosed in 25 infants of 18 families. The incidence is at least 1/47,000 in Finland. The main findings are fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload (liver hemosiderosis, hyperferritinemia, hypotransferrinemia, increased transferrin iron saturation, and free plasma iron), profound lactic acidosis, and early death. The pathophysiology of the metabolic disturbance is unsolved...

No abstract text is available yet for this article.

Autopsy findings are described of six cases (from four families) of neonatal hemochromatosis, a defect featured by severe prenatal iron storage in the liver and in a number of visceral organs similarly as in the hereditary adult-type hemochromatosis. Genetically, the two disorders are different, however. All the cases showed a characteristic liver damage with heavy iron deposits in the liver cells, lobular disarray and intralobular fibrosis, tendency towards multinuclear hepatocyte formation, ultimately resulting in pigmented cirrhosis and liver failure...

We report a neonate who presented with hypotonia, hypoglycemia, and severe lactic acidosis. The patient's acidosis did not respond to bicarbonate replacement and dialysis. Postmortem liver samples revealed portal dilatation, fibrosis, canalicular proliferation, cholestasis, and hepatocellular hemosiderosis. Vacuolization of bone marrow precursors suggested a diagnosis of Pearson syndrome. A common mitochondrial DNA deletion of 4,978 bp was found. We emphasize that Pearson syndrome should be considered in neonates with lactic acidosis despite absence of anemia...

OBJECTIVE: To investigate whether apotransferrin administration and exchange transfusion can improve outcome in patients with the recently described recessive congenital iron overload disease, presenting with intrauterine growth retardation, severe lactic acidosis, aminoaciduria, and hemosiderosis of the liver that so far has been treatment-resistant and lethal. METHODOLOGY: Because the patients have hypotransferrinemia, hyperferritinemia, increased transferrin saturation, and bleomycin detectable iron in plasma, we designed a treatment regime aiming at decreasing free iron and iron overload...

BACKGROUND/AIMS: Pearson's marrow-pancreas syndrome consists of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreas dysfunction. Patients with this disease usually have large deletions of the mitochondrial genome. We report a patient with Pearson's syndrome who had predominantly hepatic manifestations such as microvesicular steatosis, hemosiderosis and rapidly developing cirrhosis. METHODS: Analysis of the mitochondrial and nuclear genomes, determination of enzyme activities and of the hepatic iron content were performed using standard techniques of molecular biology and biochemistry...

A new neonatal syndrome characterized by intrauterine growth retardation, lactic acidosis, aminoaciduria, liver hemosiderosis, and early death was recently described. The pathogenesis of this disease is unknown. The mode of inheritance is autosomal recessive, and so far only 17 cases have been reported in 12 Finnish families. Here we report the assignment of the locus for this new disease to a restricted region on chromosome 2q33-37. We mapped the disease locus in a family material insufficient for traditional linkage analysis by using linkage disequilibrium, a possibility available in genetic isolates such as Finland...

Idiopathic neonatal hepatitis (INH) is a heterogeneous disease of undetermined cause. We report a retrospective histologic reevaluation of INH. Sixty patients with INH were reviewed along with 32 biliary atresia (BA) patients. Histologic findings, iron and fat deposits, giant cell transformation, portal fibrosis, and bile duct proliferation were semiquantitatively graded from 0 to 4+. Significant histologic findings were defined as > or =2+. Frequencies of patients with significant histologic findings in the INH group were compared with those of the BA group...

BACKGROUND: Several cases of a distinctive lethal neonatal disorder have been found in the Children's Hospital, Helsinki, Finland. However, the combination of presenting features is not typical of any known metabolic disease. We have analysed all known cases of this disorder in the hospital since 1965 and in Finland since 1990 to define clinical features of the disease. METHODS: We studied 17 newborn infants with severe growth retardation from 12 Finnish families and traced their genealogy...