1/17. Familial perinatal hemochromatosis: a disease that causes recurrent non-immune hydrops.Perinatal hemochromatosis is a rare disorder with an enormous iron overload in the parenchymal organs, especially the liver, pancreas, heart and endocrine glands. elements of the reticuloendothelial system are relatively spared. The clinical course is rapidly progressive and the disease is invariably fatal. Several siblings are described in the literature. Herein, we describe one pair of full siblings affected by the disease, wherein the clinical presentation was hydrops. We suggest that hemochromatosis should be considered in the differential diagnosis of hydrops fetalis.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/17. Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report.An autopsy case of congenital infantile myofibromatosis and neonatal hemochromatosis is reported. A thirty-six-hour-old baby girl had multiple subcutaneous nodules in addition to multiple visceral involvement of heart, lungs, pharynx, larynx, stomach, small bowel, large bowel, pancreas, kidneys, spleen, thyroid, adrenal glands, lymph nodes, peripheral nerves, meninges and soft tissues. In these tumoral nodules, three types of histological patterns were observed: 1-hemangiopericytoma-like, 2-mixed, and 3-pure spindle cell. Tumor cells were immunohistochemically positive for actin, and negative for desmin, muscle-specific antigen, and estrogen, related protein. The histological and immunohistochemical findings of the case suggested that a close relationship may exist between infantile myofibromatosis and infantile hemangiopericytoma. In addition to infantile myofibromatosis, neonatal hemochromatosis characterized by iron deposition in parenchymatous organs such as liver, pancreas, lungs, thyroid, and adrenal glands was another important characteristic of the case.- - - - - - - - - - ranking = 2keywords = gland (Clic here for more details about this article) |
3/17. diabetic ketoacidosis and hypogonadotropic hypogonadism in association with transfusional hemochromatosis in a man with beta-thalassemia major.We report a 23-year-old man with beta-thalassemia major and transfusional hemochromatosis, which manifested as diabetic ketoacidosis and hypogonadotropic hypogonadism. This unusual presentation of diabetic ketoacidosis in hemochromatosis has rarely been reported. magnetic resonance imaging of the abdomen showed decreased signal intensity in the liver, spleen, and pancreas. In addition, the pituitary gland also showed heterogeneous low signal intensity, compatible with hemochromatosis. He was treated with insulin supplements and pulsatile human chorionic gonadotropin administration. Clinical improvement was noted after hormone replacement. Intensive iron chelation therapy was given to prevent cardiac complications, and to restore his gonadal function. During follow-up, the patient experienced improvement in libido and sexual potency.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
4/17. Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus. Case report and differential diagnosis of the perinatal iron storage disorders.We report on a female preterm infant with hepatic failure and neonatal tissue siderosis of hemochromatotic type diagnosed by using both histochemistry and atomic absorption spectroscopy. The infant presented with meconium ileus, signs of rapidly progressive hepatic failure, and hyperferritinemia (7132 ng/ml). Despite surgery and intensive care the infant died 32 days after birth. Postmortem examination showed a wrinkled liver with extensive collapse of the hepatic architecture and regenerating nodules as well as hepatic and extrahepatic iron accumulation of hemochromatotic type, sparing the reticuloendothelial system. Atomic absorption spectroscopy confirmed an increase in the iron content of various organs: liver, heart, pancreas, oral salivary gland, kidney, and adrenal gland. The increase in the iron content of various organs was determined by comparing the analysis of the propositus with those of 5 gestationally age-related preterm infants who had died in the intensive care unit: 2 died of meconium aspiration syndrome, the other 3 of hyaline membrane disease, bronchopulmonary dysplasia, and immaturity, respectively. We also compared the analysis of 15 fetuses having a a condition predisposing to iron accumulation (trisomy 21, trisomy 18, cytomegalovirus, amnion infection syndrome, Rhesus- and ABO-incompatibility, congenital hemolysis, anti-phospholipid syndrome, congenital heart disease). Delta F508, the most frequent mutation seen in cystic fibrosis patients, was excluded by gene sequencing. Different noxae causing iron accumulation in the neonatal period have led to the statement that neonatal hemochromatosis may collect different etiologies, such as metabolic disorders, infections, chromosomal aberrations, and immunological disorders. In this study, we report the singular evidence of neonatal iron accumulation of hemochromatotic type in an infant presenting with meconium ileus and propose a classification of the neonatal disorders associated with iron accumulation.- - - - - - - - - - ranking = 2keywords = gland (Clic here for more details about this article) |
5/17. Primary hypothyroidism and multiple endocrine failure in association with hemochromatosis in a long-term hemodialysis patient.A 56-year-old male patient on chronic hemodialysis developed liver cirrhosis. He received a total of 20 liters of blood transfusion. Bronze pigmentation of the skin and iron deposition to the liver, spleen, pancreas and thyroid gland, which was demonstrated by computed tomography and magnetic resonance imaging studies, and histological demonstration of iron deposition to the thyroid gland, bone marrow and gastric mucosa established a diagnosis of secondary hemochromatosis. Endocrine work-up revealed the presence of diabetes mellitus with minimum insulin secretory response, primary (or thyroprivic) hypothyroidism, hypoparathyroidism and hypogonadotropic hypogonadism. A wide-spread endocrine involvement as seen in this patient is a rare clinical feature of hemochromatosis secondary to massive blood transfusion in hemodialysis patients. Particularly, primary hypothyroidism due to iron deposition to the thyroid gland was quite a rare feature of hemochromatosis.- - - - - - - - - - ranking = 3keywords = gland (Clic here for more details about this article) |
6/17. Minor salivary gland biopsy in neonatal hemochromatosis.BACKGROUND: Neonatal hemochromatosis (NH), a rare disorder seen in newborns, is defined as liver failure with extrahepatic iron deposition that spares the reticuloendothelial elements. This disorder is considered the pathologic end point of a variety of diseases that result in prenatal liver failure, and mortality without aggressive treatment is common. However, ready diagnosis remains a problem. A liver biopsy specimen showing siderosis is not specific for hemochromatosis and may be risky in patients with coagulopathy. OBJECTIVE: To describe a safe and effective method for diagnosing NH that uses lower-lip minor salivary gland biopsy and can be readily performed even in the most severe cases of coagulopathy under local anesthesia. methods: Eleven neonates with suspected NH were identified. After informed consent, a biopsy specimen of lower-lip tissue was taken under local anesthesia by the otolaryngology team. RESULTS: Ten of the 11 neonates had minor salivary gland tissue present (or detected) by initial frozen-section analysis. One of the 11 patients required a second biopsy owing to a lack of sufficient minor salivary gland tissue on the initial specimen, underscoring the importance of frozen-section analysis. Six of 7 neonates with NH had positive biopsy findings and the seventh had a false negative. There were 4 true negatives. Three of 7 children with NH survived, 1 requiring liver transplantation and 2 with medical treatment only. CONCLUSION: Minor salivary gland biopsy is a safe and effective way to quickly diagnose NH, a rapidly progressive, often fatal condition.- - - - - - - - - - ranking = 8keywords = gland (Clic here for more details about this article) |
7/17. Change in the thyroid function by use of deferoxamine in a patient with hemochromatosis complicated by hyperthyroidism.We report on a 74-year-old female patient with primary hemochromatosis complicated by hyperthyroidism. The serum ferritin level was reduced throughout a 217 day administration of deferoxamine (1 g/day). At the same time, the thyroid gland was changed from hyper- to hypo- functional proportionally.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
8/17. Idiopathic neonatal iron-storage disease.A 21-day-old infant presented with anemia, conjugated hyperbilirubinemia, hypoproteinemia, and a severe coagulopathy. The hospital course was marked by progressive hepatic failure, encephalopathy, and renal insufficiency. The infant died on day 15 of hospitalization. Postmortem examination showed diffuse hepatic fibrosis and marked siderosis of the liver, pancreas, kidney, adrenal glands, and the duodenal epithelium, with sparing of the reticuloendothelial system. These findings were characteristic of idiopathic neonatal iron-storage disease. Previously reported cases are summarized and discussed. An increased awareness and understanding of this rapidly fatal disorder will be important for genetic counseling and possibly in defining an aberrant mechanism in the handling of iron.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
9/17. Hypogonadotropic hypogonadism in idiopathic hemochromatosis: evidence for combined hypothalamic and pituitary involvement.hypogonadism is a common finding in idiopathic hemochromatosis. Most studies have localized the defect to either the pituitary gland or the testes. We describe a case with evidence that favors the likely concomitant involvement of the hypothalamus as a factor in the observed hypogonadism. A clinically hypogonadal male with hemochromatosis had a low testosterone concentration with inappropriately normal serum LH levels. Leydig cell function was intact, as demonstrated by a normal increase in serum testosterone following HCG administration. However, although the pituitary secretion of LH was normal in response to GnRH stimulation, clomiphene administration did not produce an increase in LH and FSH, suggesting that there was a defect in the hypothalamic GnRH response. Since the FSH and prolactin responses to stimulatory testing were inadequate, coexisting pituitary dysfunction was likely also present. We conclude that this man had hypogonadism with laboratory evidence for a combined defect in hypothalamic and pituitary function.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
10/17. Correlation between the depth of inverted T waves and the serum level of ferritin in a deferoxamine-treated patient with primary hemochromatosis and hyperthyroidism.A 74-year-old female having primary hemochromatosis and hyperthyroidism is described. The initial ECG showed sinus rhythm, and depression of ST segment and inversion of T waves in I, II, III, aVF, and V4-6. By deferoxamine and propylthiouracil, the serum level of ferritin was decreased from 4,500 ng/ml to 440 ng/ml in a period of 6 months. The thyroid function was also returned to normal. After cessation of both drugs, the serum ferritin level increased gradually reaching a level of 3,100 ng/ml in the next 15 months but the thyroid function remained normal. During and after the deferoxamine administration, the depth of inverted T waves became more shallow and gradually deeper again, respectively. There seemed to be a correlation between the depth of inverted T waves and the serum level of ferritin. It was, however, unlikely that toxic iron may have induced the hyperfunction of the thyroid gland.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
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