1/25. pituitary gland gumma in congenital syphilis after failed maternal treatment: a case report.A preterm, very low birth weight infant was born to a mother with early latent syphilis who was treated 10 days and 3 days before delivery with 2.4 mU of benzathine penicillin. The infant had clinical, laboratory, and radiographic abnormalities consistent with congenital syphilis, ie, a Venereal disease research Laboratory test titer that was fourfold greater than was the maternal titer, hepatosplenomegaly, abnormal liver function tests, pneumonitis, osteochondritis of the long bones, and cerebrospinal fluid (CSF) examination showing a reactive Venereal disease research Laboratory test, pleocytosis, and elevated protein content. The infant died on the third day of life, and an autopsy revealed an evolving gumma of the anterior pituitary. immunoglobulin m immunoblotting of serum and CSF was positive, and polymerase chain reaction detected treponema pallidum dna in endotracheal aspirate and CSF. This case highlights the pathologic abnormalities observed in congenital syphilis and focuses on the rare finding of an evolving anterior pituitary gumma. Furthermore, it documents the failure of maternal syphilis treatment during the last 4 weeks of pregnancy to cure fetal infection and supports the recommendation that all infants born to mothers with syphilis treated during the last 4 weeks of pregnancy should receive penicillin therapy.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/25. Congenital nasopharyngeal teratoma (epignathus).The case report of a congenital nasopharyngeal teratoma presented as an intra-amniotic sac mass was described. Histologically, the tumor was composed of highly differentiated tissue derived from three germ layers. Those tissues were partially developed as infant organs with a central core made up by bone. Haphazardly arrangement of such tissues with disorganized sketal axis helped in differentiating the mass from an asymmetric twins. The evidence of tumor attachment was seen at the retro-uvular region.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
3/25. fanconi syndrome following bowel surgery and hepatitis reversed by 25-hydroxycholecalciferol.A permature male infant required intravenous alimentation for six weeks following extensive surgery for ileal and cecal necrosis. At 3 months he developed evidence of hepatitis. Subsequently osteoporosis and the fanconi syndrome appeared. urine phosphate clearance was 83 percent of creatinine clearance at a serum phosphate concentration of 1.6 mg/dl. Concentration of plasma immunoreactive parathyroid hormone was elevated at 550 pg/ml. 25-Hydroxycholecalciferol was given at 240 mug/day. Aminoaciduria disappeared and bone healing occurred. serum phosphate rose to 6.5 mg/dl and phosphate clearance fell to 2 percent of creatinine clearance. Upon cessation of 25-OHCC therapy, the fanconi syndrome recurred despite administration of vitamin D2. 25-OHCC was then administered at 40 mug/day, and the urine abnormalities were reversed. The patient probably developed hyperparathyroidism, secondary malabsorption, and hepatitis. The fanconi syndrome was the consequence of the hyperparathyroidism. 25-OHCC therapy was more effective than vitamin d in reversing the disordered state, possibly because of impaired hepatic metabolism of vitamin D2.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
4/25. Congenital autoimmune neutropenia in two premature neonates.Autoimmune neutropenia (AIN) has been reported in infants and children, but not in neonates. AIN is caused by antibodies produced by the patient against their own neutrophils; therefore, it differs from the more common alloimmune neonatal neutropenia and the neonatal neutropenia because of a maternal autoimmune disease in which antineutrophil antibodies of maternal origin cross the placenta. We observed 2 cases of congenital AIN in premature neonates. These are the youngest reported cases, and indicate that AIN can have a prenatal onset. Examination of the bone marrow biopsies revealed an increase in B lymphocytes and myeloperoxidase-positive cells with a maturation arrest at the myelocyte stage. Recombinant human granulocyte colony-stimulating factor effectively treated the neutropenia, as it does in infantile AIN. Ten months after the diagnosis, 1 of the patients still requires recombinant human granulocyte colony-stimulating administration.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
5/25. Human cytomegalovirus as a direct pathogen: correlation of multiorgan involvement and cell distribution with clinical and pathological findings in a case of congenital inclusion disease.The human cytomegalovirus (HCMV), a member of the herpesviridae, is the most frequent cause of congenital virus infections and a major cause of morbidity and mortality in immunocompromised patients. Due to the lack of an appropriate animal model, insight into the pathogenesis of HCMV infections originates primarily from in situ examination of HCMV-infected tissues. Although in immunocompromised adults such tests are complicated frequently by the presence of additional misleading pathogens, the absence of additional pathogens renders congenital inclusion disease the most suitable access for investigation of pathogenetic aspects of HCMV infections. Immunohistochemical examination of tissue sections from a boy with fatal congenital inclusion disease was undertaken to detect the extent of multiorgan and cell involvement. Adrenal gland, bone marrow, diencephalon, heart, kidney, liver, lung, pancreas, placenta, small bowel and spleen were included in this study. Detection of virus antigens from different phases of viral replication revealed that all investigated organs were infected by HCMV. Simultaneous detection of cell type specific marker molecules showed that a variety of cell types stained positive for HCMV antigens including endothelial cells, epithelial cells, smooth muscle cells, mesenchymal cells, hepatocytes, monocytes/macrophages and granulocytes. The lung, the pancreas, the kidneys and the liver were the major target organs with a high number of HCMV infected cells. This correlated with multiorgan failure as the cause of death and strongly indicates direct pathogenetic effects of HCMV.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
6/25. Spontaneous activity in premature infants affects bone strength.OBJECTIVE: Determination of bone strength of lower extremities in very low birth weight (VLBW) premature infants with central nervous system pathology resulting in reduced unilateral spontaneous leg movements. STUDY DESIGN: Quantitative ultrasound (QUS) measurements of speed of sound (SOS) of the tibiae of both legs in three VLBW premature infants with brain insult and unilateral reduced spontaneous activity. Results were compared to QUS measurements of both legs in healthy premature infants. Measurements were performed by the same investigator who was blinded to the clinical course of the participants. RESULTS: Reduced spontaneous activity of one leg due to brain pathology resulted in decreased tibial SOS in the affected side. There was no difference in bone SOS between the legs of the healthy controls. CONCLUSION: Spontaneous movements (mainly antigravity flexion and extension) are important for bone structure and mineralization in VLBW premature infants. QUS may become an important diagnostic modality for the evaluation, treatment, and follow-up of bone strength and osteopenia in this unique population.- - - - - - - - - - ranking = 8keywords = bone (Clic here for more details about this article) |
7/25. Early-onset group B streptococcal sepsis in a preterm infant with Kostmann syndrome.A preterm infant died of group B streptococcal sepsis 7 h after birth. The infant's complete blood count showed total agranulocytosis. Histopathology of the major organs showed significant bacterial invasion without infiltration of polymorphonuclear leucocytes. Examination of the bone marrow revealed normal cellularity of the granulocyte precursors with arrested maturation. These findings are consistent with Kostmann syndrome. CONCLUSION: It is suggested that in patients with deteriorating early-onset infection, underlying congenital abnormalities in host defence, such as Kostmann syndrome, should be considered.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
8/25. Fracture and fortified breast milk in an extremely preterm infant.Metabolic bone disease (MBD) in the newborn predominantly affects preterm infants. The risk of MBD is inversely proportional to gestational age and birthweight, and directly related to postnatal complications. Poor bone mineralization has been shown in 55% of infants born at less than 1000 g. Optimal nutrition for very preterm infants is thought to be mother's own milk but supplementation is required to meet dietary requirements. However, there is insufficient evidence to determine that supplementation of human milk with commercial fortifiers has an effect on bone mineral content. We report a case of severe MBD with fractures in an extremely preterm infant who was fed with fortified mother's milk.- - - - - - - - - - ranking = 508.98398765636keywords = bone disease, bone (Clic here for more details about this article) |
9/25. Meningococcal osteomyelitis in a premature infant.The authors report a rare case of acute hematogenous osteomyelitis in a premature very low-birth weight infant caused by neisseria meningitidis, a microorganism which occasionally causes arthritis, but is very rarely involved in bone infections. The strong teamwork of clinicians, the clinical microbiologist and the radiologist allowed the prompt formulation and confirmation of the clinical suspect (regardless of the paucity of symptoms and systemic signs), the rapid isolation of the microorganism and the prompt initiation of a specific therapy, thus obviating the need for a more invasive bone biopsy, which would have been hazardous considering the risks associated with an invasive procedure, and much higher in our case because of the young age of the patient and his prematurity. Moreover, this case confirms that early ultrasonographic examination may anticipate the diagnosis and the initiation of therapy in case of a clinical suspicion of acute hematogenous osteomyelitis, thus avoiding serious complications such as growth disorders or arrest, shortening or angular deformity, loss of motion and degenerative osteoarthritis. In accordance with what suggested in the literature, initial parenteral treatment followed early by oral antibiotics was chosen, with an excellent outcome.- - - - - - - - - - ranking = 2keywords = bone (Clic here for more details about this article) |
10/25. Familial haemophagocytic lymphohistiocytosis: survival of a premature twin with immuno-chemotherapy and bone marrow transplantation from an HLA-identical unrelated donor.We describe a premature twin born at 30 wk of gestational age, affected with familial haemophagocytic lymphohistiocytosis. Two different mutations were identified in his dna: one inherited from the mother and one from the father. Haemophagocytosis had been confirmed in his twin brother, who died soon after birth, as well as in the re-evaluation of the autopsy of his older sister, who died 1 y earlier. At 26 d of age, chemotherapy and immune-suppressive treatment were started according to the HLH-94 protocol. At 6 mo of age, a bone marrow transplant from an HLA-identical, unrelated volunteer was performed. Now at 32 mo of age, the infant is healthy and without signs of graft-versus-host disease. CONCLUSION: This case report shows that immuno-chemotherapy and allogenic bone marrow transplant are feasible even in premature infants affected with familial haemophagocytic lymphohistiocytosis, which should be ruled out in unknown bleeding disorders of neonates.- - - - - - - - - - ranking = 6keywords = bone (Clic here for more details about this article) |
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