Cases reported "Infant, Newborn, Diseases"

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1/26. Primary neonatal hyperparathyroidism. Report of a case and review of the literature.

    The seventh case in the world literature of primary hyperparathyroidism in a neonate is reported. This is the fifth case in which an autopsy was performed. The clinical and anatomic findings in all seven cases are reviewed and compared. Neonates with primary hyperparathyroidism show diffuse hyperplasia of the parathyroid glands. The bones show disturbed osteogenesis, bone resorption, and widespread fibrosis of the marrow cavities. Bony cysts are not appreciated. Pathologic fractures are common. Marked hypercalciuria or hyperphosphaturia is usually not observed, perhaps because the immature renal tubules fail to respond to the influence of excess parathormone. Aminoaciduria and anemia are commonly observed. The prognosis is grave, and the etiology of this syndrome remains unexplained.
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2/26. pathology of the umbilical cord in adrenal fusion syndrome.

    We report the placental findings of a newborn with multiple anomalies that include small and fused adrenal glands, meningomyelocele, lobar holoprosencephaly, cerebellar hypoplasia, short pancreas, and small spleen, fitting with the features of the so-called adrenal fusion syndrome. The placenta was small and presented a short, undercoiled and segmentally uncoiled umbilical cord with a short constriction in the middle of its length. We speculate that adrenal fusion syndrome and abnormal spleen lobulation and short pancreas may represent part of the same complex and probably related to the one including midline anomalies and defects of laterality formation in which horseshoe (fused) adrenal gland also may be found. Undercoiled umbilical cord might represent the placental component of this malformation complex. We also underline the value in identifying abnormalities of the umbilical cord to establish the cause of death.
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3/26. Neonatal toxicity and transient neurodevelopmental deficits following prenatal exposure to lithium: Another clinical report and a review of the literature.

    I report the case of an infant girl who was exposed to lithium during gestation and her follow-up at the age of 1 year. She presented with transient neurodevelopmental deficits including lethargy, hypotonia, and poor oral feeding ability in the neonatal period. She required supportive treatment and made gradual improvement in neurologic functioning. On examination at the age of 1 year, physical findings and psychomotor development were normal. The English literature from 1978 to 2004 is reviewed. A total of 30 patients who were exposed to lithium during gestation with adequate clinical description were identified. A significant number of these babies presented with neurodevelopmental deficits and depressed neurological status including hypotonia, respiratory distress syndrome, cyanosis, lethargy, and weak suck and Moro reflexes in the neonatal period. The majority of these abnormalities resolved and most babies made full recovery. Other abnormalities were structural as well as functional involvement of the cardiovascular system, macrosomia, prematurity, jaundice, diabetes insipidus, and involvement of the thyroid gland. While the use of lithium during pregnancy does not appear to significantly increase the risk of congenital anomalies, it is frequently associated with perinatal complications and reversible neonatal toxicity. Suggested guidelines for appropriate monitoring of infants and breast-feeding of exposed babies are presented. In addition, prenatal surveillance of women with bipolar disorders who are being treated with lithium is briefly discussed.
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4/26. Foetal life and a legal duty of care.

    Until 1932 in england the right to sue for injuries caused by the fault of another was not recognised in the absence of contract. The law of negligence has expanded and developed as new facts are presented to the courts of their decision. One of the basic elements of the tort of negligence is proof that the defendant owed a duty of care to the plaintiff. The law with respect to those who suffer injury who are in being has been clearly defined. However, the law has now developed to hold that a child is born with injuries caused by the negligence of another whilst the child was in utero has a right to bring an action for compensation for those injuries provided the child is born alive. A further development in this area of law has been the legal recognition of a claim by a child who suffers injuries in utero caused by a negligent act committed against the mother at a time when the child was not even conceived provided the child can prove a duty of care was owed and that the injuries complained of were caused by the alleged negligent act. Thus midwives and other health professional who care for and advise pregnant women need to keep in mind that a duty of care may be owed to an unborn child or a future unborn child as well as to the pregnant women.
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5/26. Prostaglandin-induced hyperostosis. A case report.

    The use of prostaglandin-E1 (PGE1) to maintain patency of the ductus arteriosus in infants with ductal-dependent congenital heart disease is now well established. A 2.5-month-old child with cyanotic heart disease who required long-term PGE1 infusions; developed widespread periosteal reactions during the course of therapy. Prostaglandin-induced subperiosteal hyperostosis should now be considered in the differential diagnosis of neonatal cortical proliferation.
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6/26. An immunofluorescent study of generalized Coxsackie virus B3 infection in a newborn infant.

    An autopsy case of a 10-day-old newborn with generalized infection of Coxsackie virus B3 (CBV3) was reported. CBV3 was isolated from the blood before death. The patient died of cardiac failure. An immunofluorescent study was carried out on autopsy specimens fixed in formalin and embedded in paraffin. CBV3 antigen was detected in the heart, brain, kidney, lungs, spleen, thymus, and pancreas. In the pancreas CBV3 antigen was predominantly seen in the islet cells. No CBV3 antigen was found in the liver and adrenal glands. Electron microscopic examination revealed virion-like particles, 20 nm in diameter, in the endothelial cells of the myocardium.
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7/26. Neonatal adrenal hemorrhage.

    The neonatal adrenal gland is vulnerable to traumatic hemorrhage. With the correct interpretation of clinical, laboratory and radiographic data the diagnosis can be made non-operatively. We review 6 cases of acute neonatal hemorrhage. Trauma during or shortly after birth occurred in 4 cases and all 6 newborns had jaundice and anemia. Operative intervention rarely is necessary either for the diagnosis or treatment of intracapsular adrenal hemorrhage in the newborn.
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8/26. Congenital thyroid cyst of ultimobranchial gland origin.

    The ultimobranchial gland (UBG) is an endocrine gland which contributes C cells to the thyroid gland in mammals. Dysembryonic tissues derived from the UBG have been described as cystic bodies. The following case illustrates the criteria which characterize dysembryogenesis of the UBG.
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9/26. Generalized neonatal herpes virus infection (cytomegalovirus or herpes virus type 1). Comparative examination of loci attacked by two viruses.

    Two autopsy cases, a 5-minute-old male infant with congenital cytomegalovirus (CMV) infection and a 10-day-old female infant with herpes simplex virus type 1 (HSV-1) infection, were presented. CMV antibody titer detectable by immunofluorescence (IF) technique was significantly high in the sera of both infant and mother in the CMV case. In another HSV-1 case, we have succeeded in HSV-1 isolation from autopsy liver and subsequent serological identification of the isolated virus, including a detection of high HSV-1 antibody titer in the mother's serum by IF. On light and electron microscopes, these two cases respectively showed typical findings as the severest form of each viral infection. As one of the marked differences between the two cases, the thymus in the HSV-1 case showed remarkable involution with a complete disappearance of thymic cortical lymphocytes. However, the CMV case exhibited an existence of intact thymus without viral injuries. Similar distinguishable differences between the two cases were observed also in the bone marrow. It additionally seems to be unique that cytomegalic inclusion bodies were disclosed fairly well in the submaxillary glands and rarely in the renal tubules even in the case with HSV-1.
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10/26. Hereditary neonatal hyperparathyroidism.

    Neonatal hyperparathyroidism usually presents as a "failure to thrive" syndrome. It may be transmitted as an autosomal dominant trait and may involve more than one offspring. We report on two brothers with neonatal primary hyperparathyroidism. One underwent a total parathyroidectomy and has lived for 14 years. hyperparathyroidism was found in their father, suggesting autosomal dominant inheritance. The disease is fatal unless recognized early and treated. The characteristic pathological change is chief cell hyperplasia of the parathyroid glands. Near-total parathyroidectomy is the minimal operation required to control the hypercalcemia. Permanent hypoparathyroidism may be the sequel of appropriate surgical management. Treatment of the totally parathyroidectomized infant, however, is possible and can result in normal growth and development.
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