Cases reported "Diseases in Twins"

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1/155. Dizygotic twin sisters with myelokathexis: mechanism of its neutropenia.

    Dizygotic twin sisters were first found to have neutropenia at 1 year of age when evaluated for recurrent pulmonary infections. Since then they have remained neutropenic (0.05 approximately 0.5 x 10(9)/l). Despite of their neutropenia, myeloid hyperplasia was evident on a marrow smear examination, and a number of cells were hypersegmented with fine interlobular bridging with chromatin strands and cytoplasmic vacuolation. Electron microscopy showed apoptotic cells with condensed nuclei and apoptotic bodies in the cytoplasm. Although life span, hydrogen peroxide production, phagocytosis, spreading, and chemotaxis of peripheral neutrophils were normal, the survival of bone marrow neutrophils in both infants was markedly decreased when compared with that of normal bone marrow neutrophils. During the bone marrow culture apoptotic neutrophils were observed at an earlier stage in both patients than in normal controls, biochemically and morphologically. Morphology of bone marrow neutrophils in both patients resembled that of cultured control bone marrow neutrophils. Peripheral neutropenia and appearance of characteristic neutrophils in the bone marrow in myelokathexis are considered to be an expression of apoptosis of bone marrow neutrophils.
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2/155. moyamoya disease in Italian monozygotic twins.

    We report white monozygotic twins with moyamoya disease (MMD) (adult ischemic type). Both had cerebral angiography, MRI, magnetic resonance angiography, SPECT, EEG, human leukocyte antigen (HLA) typing, evaluation of thrombophilia, and immunologic and karyotype analysis. The clinical features and HLA phenotypes described in Asian monozygotic twins with MMD were not found in our patients. However, genetic analysis revealed a homozygous state for C-->T (Ala-->Val substitution) in position 677 of the methylenetetrahydrofolate reductase-encoding gene.
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3/155. 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.
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4/155. Paternal sex chromosome aneuploidy as a possible origin of turner syndrome in monozygotic twins: case report.

    The meiotic or mitotic origin of most cases of turner syndrome remains unknown, due to the difficulty in detecting hidden mosaicisms and to the lack of meiotic segregation studies. We have had the opportunity to study one pair of monozygotic twins concordant for turner syndrome of paternal origin. The paternal origin of the single x chromosome was determined by polymerase chain reaction (PCR) amplification. No mosaicism was detected for the X or y chromosome. In this case, a meiotic error during gametogenesis would be a likely origin of X monosomy. To determine if meiotic errors are more frequent in the father of these monozygotic twins concordant for turner syndrome of paternal origin, molecular studies in spermatozoa were conducted to analyse sex chromosome numerical abnormalities. A total of 12520 sperm nuclei from the twins' father and 85338 sperm nuclei from eight normal donors were analysed using three-colour fluorescent in-situ hybridization. There were significant differences between the twins' father and control donors for XY disomy (0.22 versus 0.11%, P < 0.001) and total sex chromosome disomy (0.38 versus 0.21%, P < 0.001). These results could indicate an increased tendency to meiotic sex chromosome non-disjunction in the father of the Turner twins.
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5/155. Discordant retinoblastoma in monozygotic twins.

    PURPOSE: We report cases of discordant retinoblastoma in twins confirmed to be monozygotic by dna analysis. methods: Twin A demonstrated severe, bilateral, multifocal retinoblastoma, which was recalcitrant to external beam irradiation and chemoreduction. Twin B has not demonstrated retinoblastoma. dna analysis was performed with polymorphic microsatellite markers to confirm monozygosity. Single-stranded conformation polymorphism and Southern blot analysis of the retinoblastoma gene were performed. RESULTS: Molecular genetic analyses confirmed monozygosity but failed to disclose a retinoblastoma gene mutation in either twin. CONCLUSIONS: The extreme phenotypic discordance may best be explained by an unidentified, postzygotic retinoblastoma gene mutation in early embryonic development of the affected twin.
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6/155. Intracranial malposition of a nasogastric tube following repair of choanal atresia.

    Intracranial penetration during attempted nasogastric intubation is a rare, often lethal occurrence. We report the inadvertent introduction of a nasogastric tube intracranially in a neonate following repair of unilateral choanal atresia. Following manual removal of the tube, the patient made a good recovery.
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7/155. Confirmation of paternal disomy in a twin molar pregnancy. A case report.

    BACKGROUND: Paternal dispermy can be the pathogenesis of complete molar pregnancy. CASE: A 23-year-old, white woman, gravida 4, para 1, was pregnant with a twin gestation by ovulation induction with metrodin. Ultrasound evaluation confirmed an intrauterine pregnancy in conjunction with what appeared to be a hydatidiform mole. The karyotype in the molar pregnancy, obtained from chorionic villus sampling, showed a pair of paternally derived inverted chromosomes 9, confirming the diagnosis of a complete mole. Uncontrollable hemorrhage with a rapid rise in the beta-human chorionic gonadotropin titer necessitated evacuation of the uterus. The patient was followed with beta-human chorionic gonadotropin titers for a year, with no evidence of recurrence. CONCLUSION: This case illustrates paternal disomy in a complete molar pregnancy documented by a paternal chromosome 9 inversion.
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8/155. Early prenatal sonographic diagnosis of twin triploid gestation presenting with fetal hydrops and theca-lutein ovarian cysts.

    The presence of theca-lutein ovarian cysts in the early second trimester of pregnancy is highly suspicious for a complete hydatidiform molar pregnancy but can be seen in association with a partial mole. Theca-lutein cysts may occur following hormonal stimulation for assisted reproductive techniques or in association with multiple gestations. Rare causes include immune and nonimmune fetal hydrops, maternal hypothyroidism, and triploid gestations. We report a case of a monochorionic twin gestation in which prenatal sonography demonstrated multiple anomalies and hydrops in each twin and bilateral theca-lutein ovarian cysts. triploidy in both twins and a partial hydatidiform mole were confirmed at pathologic examination.
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9/155. In utero development of hypertensive necrotizing pulmonary arterial lesions: report of a case associated with premature closure of the ductus arteriosus and pulmonary hypoplasia.

    Premature closure of the ductus arteriosus (PCDA) is an uncommon defect in which pulmonary hypertension (PH) has been documented by echocardiography in patients and by direct measurement after experimental PCDA in animals. The pulmonary vascular histology in human cases has received little attention but in the few recorded observations the vessels were either normal or showed increased muscularity. We report the case of a 31 week hydropic female stillborn monozygotic twin in whom postmortem examination disclosed PCDA and hypoplasia of the lungs. Atypical plexiform lesions with necrotizing pulmonary arteritis were present. These lesions represent vascular consequences of severe pulmonary hypertension produced by greatly enhanced blood flow through a restricted vascular bed resulting from the combined effects of these two abnormalities. The findings in this case of PCDA with presumed severe PH indicate that severe pulmonary vascular changes can develop in utero and that the interval of time needed for development of such chances in secondary PH is relatively short.
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10/155. Premature closure of foramen ovale and renal vein thrombosis in a stillborn twin homozygous for methylene tetrahydrofolate reductase gene polymorphism: a clinicopathologic case study.

    Premature closure of the foramen ovale, 4-chamber cardiac hypertrophy, and renal vein/vena cava thrombosis were found at autopsy of a stillborn dizygotic twin at 36 weeks gestational age. review of the original prenatal sonograms showed features suggestive of early closure of the foramen ovale. Homozygosity for the 5, 10 methylene tetrahydrofolate reductase mutation was shown only in the affected twin after the parents were found to be heterozygous for the mutation. The difference in outcome of the twins following prenatal treatment with beta mimetics and corticosteroids for preterm labor may be related to the added susceptibility factor for thromboembolism associated with presumed hyperhomocysteinemia in the proband which was not shared by the surviving healthy twin. The role of premature closure of the foramen ovale and prenatal treatment are discussed but remain uncertain.
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