1/86. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/86. Psychopathologic problems in twins during childhood.Some psychopathologic problems occurring during childhood in twins are discussed from the point of view of mental health. On the basis of case history of twins affected by neurologic or psychiatric disorders some typical situations have been examined: (1) psychopathologic problems arising from perinatal death of the cotwin; (2) psychopathologic problems arising from the death of the cotwin during late childhood; (3) psychopathologic problems arising in the pair from organic or neuropsychaitric event in one of the twins; (4) psychopathologic problems of the twins due to disorders of personal identity and the interaction between the twins. The cases are analyzed from a psychodynamic point of view, in relation to the development of personality in the twins, and from a psychosocial point of view, in relation to the cultural stereotype of the twins during the socialization process and in the context of parental dynamics.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/86. anatomy of a duplicated human foot from a limb with fibular dimelia.At birth, a patient presented with a right lower limb featuring preaxial polydactyly and fibular dimelia with a complete absence of the tibia. Radiographic studies of the patient's foot revealed a duplicated tarsus with eight metatarsals and toes. The three preaxial toes were surgically removed at 1 year of age. A hallux and four normal-appearing postaxial toes remained. The foot was amputated when the patient was 3 years old. dissection of the amputated foot revealed that the muscles of the dorsum were normal, except that the tendon of the extensor hallucis brevis muscle inserted into both the hallux and toe 2, rather than only into the hallux. The few abnormalities observed among the muscles on the plantar surface of the foot included absence of the insertions of the tibialis posterior and the abductor hallucis muscles. In addition, the two heads of the adductor hallucis muscle inserted abnormally into the medial (tibial) side of metatarsal 1, rather than into the lateral side. These various muscular anomalies, in addition to the mirror duplication of the foot with the presence of only a single metatarsal 1, leads us to propose that this metatarsal probably represents two lateral (fibular) halves that form a laterally duplicated bone. Although the dorsalis pedis artery was present on the dorsal surface of the foot, most of its derivatives were absent. This artery did give rise to a supernumerary medial branch that ended abruptly in the connective tissue (presumably postsurgical scar) at the medial border of the foot. This branch may have represented a duplicated dorsalis pedis artery associated with the duplicated preaxial portion of the foot. The arteries on the plantar surface of the foot were normal. Even though some anomalies in the pattern of the cutaneous innervation were observed, the nerves of the foot were largely normal. The gross and radiographic anatomy of this specimen and the radiographic anatomy of the leg suggest that some teratogenic event occurred when developmental specification reached the level of the future knee. The teratogenic event, which probably occurred early in the fifth week of development, may have caused damage that led to a lateral duplication of both the leg and the foot with the absence of some of the most medial structures. teratology 60:272-282, 1999.- - - - - - - - - - ranking = 0.66913040314643keywords = nerve (Clic here for more details about this article) |
4/86. Postoperative mycobacterium avium osteomyelitis confirmed by polymerase chain reaction.An 18-year-old male with Escobar syndrome developed mycobacterium avium osteomyelitis after corrective osteotomy. After three surgical interventions the infection reappeared a fourth time. Repeated attempts at microbiological diagnosis of the granulomatous lesions by microscopy and culture for conventional bacteria and Mycobacteria did not reveal any organism. The diagnosis of mycobacterium avium finally was achieved by polymerase chain reaction. Extensive immunological work-up did not reveal signs of immunodeficiency. The patient was treated successfully by a combined surgical and chemotherapeutic approach consisting of clarithromycin, ethambutol and ciprofloxacin. CONCLUSION: polymerase chain reaction may be especially useful for clinical situations with a low bacterial load, especially for fastidious and slow growing pathogens like Mycobacteria. In our patient a combination of surgical therapy with a triple regimen containing clarithromycin proved successful for treatment of a localised infection with M. avium in a supposedly immunocompetent host.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
5/86. Absence of connections between spinal nerves and the spinal cord in a twin fetus: a very rare malformation occasionally evidenced at autopsy.We describe a rare case of spinal cord malformation in a dichorionic diamniotic twin fetus aborted at 20 weeks' gestation due to acute chorioamnionitis with placental dysmaturity probably caused by a maternal viral infection. At autopsy, there were no connections between the spinal nerves and the spinal cord. The spinal cord lacked the posterior median fissure and gray matter; only a few neurons were present in the anterior and lateral gray columns. No chromosome anomalies were found. Although we cannot reconstruct the pathogenetic chain of events leading to this malformation, we believe that it is correlated with a maternal viral infection. We hypothesize that this viral infection altered the delicate balance between the factors inducing and those inhibiting fetal spinal neural differentiation.- - - - - - - - - - ranking = 3.3456520157322keywords = nerve (Clic here for more details about this article) |
6/86. Cluster of candida parapsilosis primary bloodstream infection in a neonatal intensive care unit.candida parapsilosis is an increasingly important bloodstream pathogen in neonatal intensive care units (NICU). We investigated a cluster of bloodstream infections in a NICU to determine whether nosocomial transmission occurred. During a 3-day period, 3 premature infants hospitalized in the same unit presented with sepsis caused by C. parapsilosis. Electrophoretic karyotype of the organisms was performed by using pulsed field gel electrophoresis in a countour-clamped homogeneous electric field system. The isolate from 1 newborn could not be typed, and the isolates from the remaining 2 infants had identical patterns. All 3 cases are described. We conclude that nosocomial transmission of C. parapsilosis occurred and that neonates under intensive care may represent a risk group for this pathogen.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/86. Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement.We report dizygotic twins who first presented at the age of 6 months with severe diaphragmatic weakness and marked abnormalities of autonomic function. A female sibling had earlier died from a disorder with similar clinical features. Both twins had a severe axonal polyneuropathy with generalized hypotonic limb weakness together with diaphragmatic paralysis resulting in respiratory failure. Associated features were tachycardia, increased sweating, elevated body temperature, and hypertension, suggesting autonomic dysfunction. Nerve conduction studies indicated an axonopathy affecting both motor and sensory nerve fibres. sural nerve biopsy in one twin performed at the age of 7 months showed a reduced population of myelinated nerve fibres, particularly those of larger diameter, with no indication of hypomyelination, demyelination or axonal atrophy. Examples of axonal forms of hereditary motor and sensory neuropathy (HMSN) with onset in infancy are very rare and autonomic involvement associated with this condition has not so far been described.- - - - - - - - - - ranking = 2.0073912094393keywords = nerve (Clic here for more details about this article) |
8/86. measles virus infection in the placenta of monozygotic twins.We report a case of monozygotic twins whose mother was infected with measles at 19 weeks' gestation. One of the twins died in utero at 32 weeks' gestation. The placenta of the stillbirth showed massive fibrin deposition, and some residual trophoblasts contained many inclusion bodies positive for measles virus antigen. Fetal organs and cells other than a few splenic lymphocytes showed no evidence of measles virus infection. The placenta of the surviving infant showed focal intervillous fibrin deposits, and only a few syncytiotrophoblasts were positive for measles virus antigen. At present, 7 months after the delivery, the surviving infant has not developed any sign of measles virus infection. Postpartum course of the mother has been uneventful, although high titers of serum anti-measles virus IgM persisted for 6 months after delivery. This case is informative in the following respects: the villous trophoblasts had diagnostic inclusion bodies and ultrastructural evidence of measles virus infection, the degree of viral involvement within the monochorionic placenta was uneven, both of the twins were virtually free from measles virus infection despite the marked involvement of the placenta, and measles virus infection had persisted in the monochorionic placenta for approximately 13 weeks.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/86. Pathogenesis of acardiac twinning: clues from an almost acardiac twin.OBJECTIVE: To search for clues to the pathogenesis of acardiac twinning. methods: We examined a case of monoamniotic twins in which twin A's only sonographic abnormality was a dilated, tortuous ductus venosus. Twin B also had this abnormality as well as multiple other anomalies that included enormous hydrops and a severely hypoplastic heart. Following termination of pregnancy, autopsy was performed. RESULTS: Postmortem examination of the placenta confirmed monochorionic, monoamniotic placentation with two adjacent trivascular cords. autopsy confirmed the sonographic findings of enormous hydrops in twin B with a severely malformed, almost nonexistent heart. In addition, the liver was small and was represented by a cyst-like structure with thin rims of congested parenchyma surrounding large vascular spaces. CONCLUSION: We believe the sequence of events in this case was early twin-to-twin transfusion resulting in a dysfunctional heart in twin B. This enabled a twin reversal arterial perfusion sequence with further deterioration of twin B's heart and extreme congestion of deoxygenated blood exiting the heart into the inferior vena cava and ductus venosus. This case supports the concept that circulatory reversal in the face of an initially functioning heart may lead to congestion, tissue hypoxia and secondary organ atrophy.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
10/86. Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.The patient was the first child of healthy consanguineous parents. She presented at birth with hypotonia, mild facial dysmorphism, periventricular cysts, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate molar ratios, normoglycemia, and normal ammonia. Hyperlactacidemia was severe (5-14 mmol/l) and not corrected with bicarbonate, thiamine (10 mg/d), 2-chloropropionate (100 mg/kg/d) and a ketogenic diet. Pyruvate dehydrogenase (PDHC) activity was normal in lymphocytes and fibroblasts. Functional assays were performed in digitonin-permeabilized fibroblasts to measure oxidation rates from radiolabeled pyruvate and malate. The production of [14C]acetylcarnitine or [14C]citric cycle intermediates derived from [2-14C]pyruvate as well as the release of 14CO(2) from [1-14C]pyruvate was severely impaired, whereas decarboxylation of [U-14C]malate was normal. With increasing concentrations of [1-14C]pyruvate, the patient's fibroblasts behave like control fibroblasts incubated in the presence of alpha-cyano-4-hydroxycinnamate, a specific inhibitor of mitochondrial pyruvate uptake: a progressive increase in 14CO(2) production was observed, likely due to passive diffusion of [1-14C]pyruvate through the mitochondrial membranes. Our results are consistent with a defect of mitochondrial pyruvate transport in the patient. Mutational analysis was precluded as the cDNA sequence of the pyruvate carrier has not been identified as yet in any organism. An affected fetus was recognized in a subsequent dichorionic twin pregnancy using the coupled assay measuring [2-14C]pyruvate oxidation rates on digitonin-permeabilized trophoblasts. After selective feticide, the pregnancy was uncomplicated with delivery at 37w of a healthy female, who is currently 2-month old.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
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