Cases reported "Diseases in Twins"

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1/25. Parietal pseudofracture and spontaneous intracranial hemorrhage suggesting nonaccidental trauma: report of 2 cases.

    Massive intracranial hemorrhage, no history of trauma and radiographic findings that were initially interpreted as linear parietal fractures raised the possibility of nonaccidental trauma in 2 infants. Both had severe coagulopathy, 1 due to hemorrhagic disease of the newborn (vitamin k deficiency) and the other due to disseminated herpes simplex virus infection. Both infants died. At autopsy, the parietal bone abnormalities were not fractures, but proved to be an anomalous suture in 1 and a connective tissue fissure in the other.
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2/25. Spontaneous gastric perforation in premature twins.

    Two pairs of identical and non-identical premature neonates proceeding from twin pregnancies were operated on for spontaneous gastric perforation. The newborns in our case, one girl and one boy two different pregnancies were delivered by emergency cesarean section. Their gestational ages were 30 and 32 weeks, and their birth weight 1400 and 2100 g, respectively. Both of the neonates were being treated in the Neonatal Intensive Care Unit when the perforations were diagnosed. They presented clinically abrupt symptoms of abdominal distension and pneumoperitoneum. The sites of the ruptures were located at the anterior gastric wall near the gastroesophageal junction. The sibling twins were consequently also observed very carefully and fortunately they did not develop any similar clinical symptoms. All four twins were finally discharged from the hospital in good condition.
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3/25. Neonatal hyperthyroidism in infants of mothers previously thyroidectomized due to Graves' disease.

    Neonatal hyperthyroidism generally arises as a result of active maternal Graves' disease via transplacental passage of thyroid stimulating immunoglobulins (TSI). On occasions, production of these antibodies may continue after thyroid ablation, either surgically or with radioiodine therapy. We present data concerning three patients (two of them twins) whose mothers had previously undergone near-total thyroidectomy prior to conception. Two of the neonates had neonatal hyperthyroidism due to persistence of TSI in the mother, and the third due to relapse of the maternal Graves' disease during pregnancy. We recommend monitoring
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4/25. Severe short stature and endogenous growth hormone resistance in twin brothers without growth hormone gene mutations.

    Growth failure in children with high growth hormone (GH) levels, low insulin-like growth factor 1 (IGF-1) levels, and accelerated linear growth in response to exogenous GH is presumed to result from biologically inactive GH. A molecular diagnosis has only been made in two such patients. We analyzed the presentations and the GH-1 genes of twin Egyptian brothers with this phenotype. At 8 yr of age, the boys' heights were -4 SD. Their IGF-1 levels were 64 and 60 ng/mL, baseline GH levels were 2.1 and 11.7 mU/L, and growth hormone binding protein levels were normal. Twin B attained a peak GH level of 30.6 mU/L after L-dopa stimulation (Twin A was not tested). After 1 yr of exogenous GH, their growth velocities were >11 cm/year (>97%). Analysis of their GH-1 exons and introns revealed no mutations, but five polymorphisms were identified that have not been previously reported. The GH-1 dna sequence was transfected into human cells and the resulting GH-1 transcripts were analyzed. Wildtype GH-1 mRNAs were observed, demonstrating that the polymorphisms do not affect transcript processing. Therefore, although no evidence of GH-1 gene mutations or abnormal GH-1 mRNA processing was found, the subjects' excellent response to exogenous GH supports a trial of GH in children with severe short stature, low IGF-1 levels and normal GH responses to stimulation testing.
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5/25. Mild hypothermia after near drowning in twin toddlers.

    INTRODUCTION: We report a case of twin toddlers who both suffered near drowning but with different post-trauma treatment and course, and different neurological outcomes. methods AND RESULTS: Two twin toddlers (a boy and girl, aged 2 years and 3 months) suffered hypothermic near drowning with protracted cardiac arrest and aspiration. The girl was treated with mild hypothermia for 72 hours and developed acute respiratory dysfunction syndrome and sepsis. She recovered without neurological deficit. The boy's treatment was conducted under normothermia without further complications. He developed an apallic syndrome. CONCLUSION: Although the twin toddlers experienced the same near drowning accident together, the outcomes with respect to neurological status and postinjury complications were completely different. One of the factors that possibly influenced the different postinjury course might have been prolonged mild hypothermia.
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6/25. Stapled gastroplasty for antral stricture after repair of neonatal gastric rupture: report of a case.

    The patient was the second of twin girls born at 32 weeks' gestation, weighing 1736 g. Abdominal distention was noted the day after birth, and abdominal x-ray showed free air in the abdomen. An emergent laparotomy with debridement and primary closure were performed for spontaneous gastric rupture. From the age of 8 months, the infant sometimes vomited after meals and was unable to gain weight. She was diagnosed, by upper gastrointestinal series and gastroscopy, with antral stricture with a normal prepyloric area and pylorus. The presence of an antral web, ulcers, or ectopic pancreatic tissue was excluded. There was sufficient distance between the stricture area and the pylorus. Stapled gastroplasty using an Endopath linear cutter stapler and a Proximate linear stapler was performed safely and quickly without injury to the normal pylorus or branches of the vagal nerve at the lesser curvature. The child's postoperative course was uneventful.
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7/25. Progressive facial hemiatrophy: a complex disorder not only affecting the face. A report in a monozygotic male twin pair.

    Progressive facial hemiatrophy (PFH) is a ubiquitous disease, characterized by hyperpigmentation of skin followed by unilateral craniofacial atrophy of subcutaneous tissues, including fat, muscle and bone. Hereditary factors have been postulated to be involved in the aetiology of PFH. Yet, the occurrence of PFH in one of two identical male twins reported here makes this possibility unlikely. PFH usually occurs in the first two decades of life, and the clinical presentation resembles linear scleroderma. PFH may be complicate by autoimmune, neurological, ocular and dental disorders. Management of PFH comprises a long term follow-up of somatic disorders, and prevention of psychological problems. Treatment of PFH is symptomatic and consists of plastic surgery after the disease activity has stopped. CONCLUSION: The occurrence of PFH in one of monozygotic twin pair suggests that genetic factors are not involved in its aetiology. Early diagnosis of PFH and accurate follow-up is essential to disclose the occurrence of complications.
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8/25. Primary cutaneous aspergillosis (PCA)--a case report.

    Primary cutaneous aspergillosis is a rare diagnosis. Predisposing factors are immunodeficiency and macerated skin. The mortality of infections with aspergillus species is high, especially in neonatal intensive care units (NICUs). We present a premature (24 wk of gestation) infant with primary cutaneous aspergillosis appearing on the sixth day of life. Predisposing factors in this patient were prematurity, extremely vulnerable skin, treatment with antibiotics and renovation in the radiology department nearby. The patient was treated with amphotericin b intravenously for a total of 40 d. He did not have, nor develop, disseminated aspergillosis, and suffered no side effects from the treatment. The only remaining trace of his infection was scarring in the affected area.Conclusion: After having treated this patient successfully and having gone through the available literature, we conclude that treating primary cutaneous aspergillosis with intravenous amphotericin b prevents disseminated aspergillosis and is the treatment of choice.
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9/25. Disparate clinical presentation of neonatal hemochromatosis in twins.

    Neonatal hemochromatosis (NH) is a rare disease of gestation that results in fetal liver injury and extrahepatic siderosis. The etiology of NH is not fully understood. However, the rate of recurrence of NH in the pregnancy after an affected one is approximately 80%. A spectrum of liver disease has been recognized, spanning from liver failure in the fetus or neonate to infants that survive with medical therapy. Here we report on 2 sets of fraternal twins, each set with a gross disparity in the severity of presentation: 1 infant with liver failure and the other nearly unaffected. These findings suggest a need to look carefully for subclinical disease in the siblings of patients with NH by using sensitive tests such as those for ferritin and alpha-fetoprotein. They also suggest that affected infants may be missed when using routine clinical testing, which would lead to the apparent rate of recurrence, understating the actual recurrence rate.
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10/25. Alveolar cell carcinoma in identical twins. Similarity in time of onset, histochemistry, and site of metastasis.

    Identical male twins had alveolar cell carcinoma with nearly synchronous onset and similar histopathologic features, both metastatic to the brain. The hypothesis is advanced that there are genes shared by these twins that determine not only the susceptibility of pulmonary cells to malignant transformation but also the character of the resultant neoplasm, including its histologic features and metastatic behavior.
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