Cases reported "Diseases in Twins"

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1/53. 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.
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2/53. Successful living related simultaneous pancreas-kidney transplant between identical twins.

    Simultaneous pancreas-kidney transplant from living donors has been recently proposed as an effective therapeutic option in selected uremic patients with type I diabetes. We report the first simultaneous pancreas-kidney transplant performed between identical twins. Posttransplant, the recipient has been maintained on low dose cyclosporine to avoid recurrent auto-immune insulitis. At the 1-year follow-up, both donor and recipient are well with normal renal function and excellent glucose control. Simultaneous pancreas-kidney transplant between identical twins can be performed successfully using cyclosporine to prevent recurrent auto-immune insulitis.
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3/53. A new syndrome comprising vertebral anomalies and multicystic kidneys.

    We report a dichorionic twin pregnancy in which both fetuses were affected by a similar pattern of multiple abnormalities. The afrocaribbean parents had a history of infertility, and the pregnancy was conceived using in vitro fertilisation with donor sperm. The features seen in the fetuses do not fit any previously described disorder well. We discuss the differential diagnoses and suggest that this may be an autosomal recessive disorder which has not been previously described.
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4/53. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

    The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity <1 x 10(-6). The affected twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin.
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5/53. penis, bladder and uretral agenesis associated with anorectal malformation in a living male neonate. Case report.

    Aphallia is a very rare congenital malformation, with an occurrence of 1 in every 30 million births. In the international literature about 75 cases have been indicated as of today. The authors report and discuss the case of one neonate, born from a monoamniotic twin delivery, suffering from agenesis of the penis, anorectal malformation with a fully formed scrotum with 2 normal gonads and absence of bladder and urethra and both kidneys.
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6/53. Effects of renal transplantation on hearing and ocular changes in a monozygotic twin with Alport's syndrome: comparison with other twin on hemodialysis.

    AIM: To present a unique case of Alport's syndrome in monozygotic twins with two different treatment modalities - renal transplantation and hemodialysis, and to evaluate the effects of therapy on hearing and ophthalmological findings. methods: Pure-tone audiogram and ophthalmologic examinations were performed in both twins at the age of 30. At the age of 46, 4 years after renal transplantation in the first twin and after 6 years of hemodialysis in the second twin, both twins underwent control audiometric and ophthalmologic examinations. RESULTS: Control audiometric measurements showed the progression of bilateral sensorineural hearing loss in the high-frequency range (>2,000 Hz) in both twins. The hearing threshold progressed from initial 50 dB in both twins at the time of the diagnosis to 55 dB in the twin on hemodialysis, and 85 dB in the twin with a transplanted kidney. Retinal blurry hyperpigmentations disappeared in the twin with a transplanted kidney. CONCLUSION: In comparison with hemodialysis, renal transplantation in Alport's syndrome may have deleterious effect on hearing, when associated with plasma hyperviscosity and hyperlipidemia, but may lead to regression of retinal hyperpigmentation.
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7/53. Concordant rhabdoid tumor of the kidney in a set of identical twins with discordant outcomes.

    We report identical twin boys who each had stage IV rhabdoid tumor of the left kidney at the age of 5 months and 2 years, respectively. The 5-month-old boy, despite receiving chemotherapy, died of progressive disease at the age of 12 months. Following resection of the tumor, his twin brother was treated with 6 cycles of combination chemotherapy consisting of cisplatinum, doxorubicin, vincristine, cyclophosphamide, and actinomycin-D alternating with ifosfamide and etoposide. After complete regression of lung and brain metastases, he received high-dose thiotepa, etoposide, and cyclophosphamide, followed by autologous peripheral stem cell rescue. The patient is presently alive and free of disease 6 years posttransplant. High-dose chemotherapy followed by autologous stem cell transplant may be an effective front-line therapeutic approach for patients with metastatic rhabdoid tumor of the kidney.
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8/53. Meniere's disease in congenital nephrogenic diabetes insipidus: report of two twins.

    Two cases, twins, affected by congenital nephrogenic diabetes insipidus (CNDI) with a high daily volume of dilute urine excretion and periods of compensatory high levels of antidiuretic hormone (ADH) simultaneously developed a fluctuating Meniere-type hearing loss. It is well known that the kidney and the cochlea are linked by structural and anatomic characteristics, as well as by the physiologic mechanism of electrolytes and fluid regulation. The patients herein described seem to be paradoxical, because they suffered from hydropic hearing loss despite the pathophysiologic mechanism of CNDI and the possible role played by ADH in water regulation in the inner ear. The consequences on Meniere's disease of the different therapeutic regimens followed by the two CNDI patients are discussed. To our knowledge these are the first cases of CNDI with Meniere's disease described in the literature.
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9/53. wilms tumor in monozygous twins: clinical, pathological, cytogenetic and molecular case report.

    The concomitant occurrence of wilms tumor (WT) was observed in two monozygotic twin sisters without evidence of congenital malformations. Twin 1 was diagnosed with a stage I WT at 11 months of age, whereas twin 2 developed a bilateral (stage V) WT at 13 months of age. In both cases pathologic examination showed a nonanaplastic stromal type WT, with marked rhabdomyomatous elements. Cytogenetic analyses performed on blood samples and on tumor specimens revealed no karyotypic abnormality. No alteration of the WT1 and POU6F2 genes was identified in constitutional and tumor dna of both sisters, and no anomaly in WT1 expression was evidenced in the normal kidney of one of them. However, loss of heterozygosity on chromosome 11p, involving the alleles of maternal origin, was detected both in the single tumor of twin 1 and in the two distinct tumors of twin 2, thus suggesting a common etiology of the diseases. To the authors' knowledge, this is the first report describing at both the clinical and genetic level a couple of monozygotic twins concordant for WT development.
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10/53. Unilateral isolated microphthalmia inherited as an autosomal recessive trait.

    PURPOSE: To report a family with unilateral isolated microphthalmia showing an autosomal recessive pattern of inheritance. CASE REPORT: We report a family in which three out of four children, one male and monozygotic female twins, were born with unilateral isolated microphthalmia to healthy consanguineous parents. One twin additionally had a horseshoe kidney. Rare cases of familial isolated microphthalmia/anophthalmia have been previously described. This is the first report of a family with autosomal recessive isolated microphthalmia occurring unilaterally in all affected individuals. It remains unknown how this inherited genetic disease results in unilateral manifestation. CONCLUSION: Mirror imaging of this condition in the monozygotic twins may help elucidate the underlying mechanism. The constellation of features in this family may contribute to solve remaining questions of research into symmetry and asymmetry.
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