We report a 16-year-old girl with features of Turner's syndrome from whom an invasive dysgerminoma was removed. Cytotoxic drugs were given for the next 12 months. Mosaicism of two karyotypes (45,X/46,X; mar) was found in various tissues. The literature is reviewed with special regard to cytogenetic findings and prognosis of ...

The most common cardiac defect in Turner syndrome has been described previously as coarctation of the aorta. We have evaluated 35 consecutive patients with Turner syndrome by clinical examination and by M-mode and two-dimensional echocardiography. Twelve patients (34%) had isolated, nonstenotic bicuspid aortic valve. A high correlation (82%) existed between ...

National surveillance for Reye syndrome conducted during five years, including the period 1973-1974 and December 1976 through November 1980, has resulted in the reporting of more than 2,000 cases of Reye syndrome. The highest reported incidence of Reye syndrome occurred during years of primary influenza B and A (H1N1) activity; ...

The outcome of stage V Reye's syndrome survivors has not been critically assessed. Three teenage survivors, who initially exhibited severe psychosocial and intellectual regression, are described. Findings support the observation that the neurological outcome from Reye's syndrome correlates with the duration of altered consciousness during the acute phase. Recovery of ...

A 45,X fetus with cystic hygroma, associated with an elevated amniotic alpha-fetoprotein (AFP) level (greater than 80 microgram/ml). Is described, as are macroscopic and microscopic characteristics of this fetus and two other female fetuses with cystic hygroma. The ultrasonographic diagnosis of fetal cystic hygroma is discussed. The association of a ...

Disease-specific growth curves for Turner's syndrome were calculated by means of 2nd order homogeneous differential equations with constant coefficients, taking different cytogenetical subtypes into account. Comparison of these growth curves between X-monosomic (n = 64) and 46,XX/45,X-mixoploid (n = 20) patients reveals no differences, in contrast to the commonly accepted ...

A neuropathological study was made in 2 women with Turner's syndrome. Neuropsychological investigation in one of them correlated with what has previously been found in Turner's syndrome as well as with the localization of the most pronounced neuropathological aberration which was of atherosclerotic nature, most pronounced in the right temporo-parietal ...

The histopathology of the right temporal bone of a 47 year old deaf woman with Turner's Syndrome (gonadal dysgenesis) is described. The appearances are of the Mondini deformity, the cochlea consisting of a single basal turn with a bulbous apical dilatation. The organ of Corti was absent. The remainder of ...

Serological evidence for hepatic cellular injury may occur during uncomplicated varicella. The magnitude of abnormalities may be helpful as a guide in the management of children with progressive varicella or varicella-associated Reye's syndrome, but liver function tests may be in the normal range. Viraemia was not detected during the acute ...

1. The concentrations of vitreous humour and plasma glucose were closely correlated in both healthy and fatty liver and kidney syndrome-affected chicks at time of death. 2. The values of vitreous humour glucose and lactate decreased rapidly after death, such that they were not reliable indicators of the presence of ...

The aetiology of Reye's syndrome is uncertain. Factors such as environment (urban or rural), socioeconomic conditions and race seem to influence the variation in incidence. These factors, as well as clinical presentation, were studied in the Johannesburg area over a 5-year period. The preceding illness differed from that in the ...

A clinico-pathologic correlation can be established for those survivors of Reye syndrome in the higher clinical stages who have sustained irreversible and often major neuropsychiatric deficits. The neuropathologic substrate for the clinical manifestations of mental retardation, recurrent seizures, movement disorders, sensori-motor deficits, psychobiologic maladjustment, and mediocre performance in school and ...

An adolescent girl with short stature and learning disability was found to have an unusual variant of Turner's syndrome, 46X, del (X) (p 11) and an abnormal urinary sediment. Further studies demonstrated persistent depression of C3 and histologic evidence of membranoproliferative glomerulonephritis (MPGN). The occurrence of MPGN in this case ...

Four girls with some clinical symptoms of Turner's syndrome had Xq duplication and Xp deficiency, their karyotypes being 46,X,dup(X)(p113;q11), 46,X,dup(X)(p212;q211), 46,X,dup(X)(p225;q13), and 46,X,dup(X)(p222;q213). No mosaicism was found. The major clinical findings, short stature, lack of pterygium colli, and no continuous gamete production, are compared with those in three previously published ...

Turner syndrome (45,X karyotype) is one of the few sex chromosome aberrations that can be recognized clinically during infancy or childhood. The features are short stature, broad shield chest, lymphedema of feet and legs, and webbed neck. On the other hand, boys with 47,XYY karyotype cannot be diagnosed from the ...

We report three cases of Turner's syndrome with cystic hygromata, which were diagnosed by routine ultrasound scanning before amniocentesis in the second trimester of pregnancy. Maternal and amniotic level of alpha-fetoprotein were normal. Karyotyping carried out afterwards showed a 45,X karyotype. Our data indicate, that cystic hygromata in Turner's syndrome ...

This case report describes a patient suffering from both manic-depressive illness and Turner's syndrome mosaicism. This is the second such patient to be reported, but the first to be described in detail and to receive full karyotypic analysis. The significance of the association of manic-depressive illness and Turner's syndrome for ...

Extraovarian estrogen production was studied in an obese young woman with pathologically confirmed mosaic Turner syndrome and pseudotumor cerebri. Diet plus enough dexamethasone to suppress adrenal steroidogenesis promptly lowered cerebrospinal fluid testosterone. Estrone was detected in cerebrospinal fluid before and after but not during dexamethasone treatment. Extraovarian estrogen probably produces ...

A 31-year-old white female, 127 cm tall and with other findings of the Turner syndrome, had had normal menses and had become pregnant at ages 23 and 26 years. Chromosomal analyses of several tissues, including both ovaries, revealed only 45,X karyotypes. Both of her daughters had 46,XX karyotypes in lymphocytes. ...

Three children with Reye's syndrome are described. One child died, the second had mild and transient illness, and the third had recurrent episodes. In all 3 children a muscle biopsy showed pronounced infiltration of the myofibres with fat microdroplets as shown by the oil red O stain and by electron ...

Further studies confirm the authors' previous contention that patients suffering from the post-traumatic syndrome (PTS) do recover from this syndrome and return to full-time work before litigation is settled. Failure to have returned to work by the time of settlement indicates a bad prognosis, and such patients rarely return to ...

Ridges counts of the whorls, distal loops and tibial loops of the hallucal patterns of 85 Klinefelter's syndrome patients (47,XXY) were undertaken. Comparison with counts from normal male and female controls showed that the whorls and distal loops of the Klinefelter's patients had significantly fewer ridges, if the ridge count ...

We report the eleventh documented case of the concurrence of anorexia nervosa and 'Turner syndrome'. Although some authors have suggested that the 2 syndromes occur together more often than by chance, and 5% of anorexia nervosa patients karyotyped to data have 'Turner syndrome', recent evidence in fact suggests that the ...

In a series of 24 patients with Turner's syndrome, amblyopia was found to be present in ten (41.6 per cent), strabismus in nine (37.5 per cent), hypermetropia in ten (41.6 per cent), ptosis in seven (29.1 per cent), and bilateral epicanthus in eleven (45.8 per cent) cases. Turner (1938) described ...

A 6-year-old girl with Turner's syndrome presented with recent onset of proteinuria and pedal edema. There was no history of arthritis, fever, or abdominal pain. A physical examination revealed the stigmata of Turner's syndrome, hepatomegaly, and pedal edema. The urine contained 4+ protein without red blood cells or casts, and ...

Family and social background and psychosexual and psychomotor development were studied on 24 patients with the Ullrich-Turner syndrome ranging in age from 9 months to 18 years. Infancy is often characterized by mild feeding problems and sleeping difficulty. Early motor development is normal or mildly delayed but acquisition of speech ...

Some major epidemiologic features of Reye syndrome have been elucidated since the first description of this clinical entity. Multiple studies have shown an association with epidemic influenza B and endemic varicella. Little population data are available on age, sex, race, geographic distribution, and secular trends. A five-year retrospective population-based study ...

The report concerns a 21-year-old woman who, after having taken oral contraceptives for three months, developed the Budd-Chiari syndrome as the results of a widespread chronic obliterative process involving the intrahepatic venous system. The diagnosis was established by liver biopsy. She was treated with supportive measures and completely recovered after ...

Eight children were recognized to have Turner's syndrome, among 353 patients over 1 year of age who had undergone surgical treatment for coarctation of the aorta. Of these eight children, three developed a significant perioperative hemorrhage from aortic rupture, resulting in one death and one instance of paraparesis related to ...

A case of exclusive adult lesbianism and manic-depressive illness associated with Turner's syndrome mosaicism is reported. Turner's syndrome women are described as hyperfeminine without problems in gender identity, gender role, or arousal pattern. Adult lesbianism has never previously been reported in these women. The significance of lesbianism in association with ...

It is known from literature that about 30% of all female patients with Turner's sydrome have a lymphoedema at the feet and hands. The article discusses as possible reason a congenital defect of the lymphatic system: The vessels are thin-walled, extended and have few valves or none at all. In ...

A male infant with a fatal case of Reye's syndrome had numerous intraretinal hemorrhages and hemorrhagic schisis blebs under the internal limiting membrane (ILM). Histopathologic examination showed bilateral central retinal vein thrombosis with recanalization and confirmed the presence of intraretinal hemorrhages and the sub-ILM schisis cavities. Ghost erythrocytes were demonstrated ...

A posterior approach is proposed for correction of the webbed-neck deformity of Turner's syndrome. In this approach, a butterfly-shaped portion of redundant skin is excised posteriorly and the lateral, superior and inferior flaps joined in a double Y midline suture line. This approach avoids the unnatural hairline and noticeable scars ...

We report fatal Reye's syndrome in two adults following proven influenza A viral infections. Reye's syndrome is, therefore, not confined to children but may also occur in adults. Many reported cases of postinfluenza A encephalopathy have clinical and pathological features of Reye's syndrome suggesting that they are not due to ...

A case of Reye's syndrome in a four-year-old child on long-term salicylate medication for rheumatoid arthritis is reported. Severe fatty changes of the liver, lipid vacuolation in the renal proximal tubules, and severe brain oedema were the prominent postmortem findings. Symptoms of a trivial infection and vomiting just before death ...

A 26-year-old African female presented with primary amenorrhoea and genital abnormalities. She had the physical stigmata of Turner's syndrome and a 45, X karyotype. Severe masculinization of the external genitalia, apparently present from birth, was present and a laparotomy revealed a hilus-cell tumour of the right streak gonad. Clitoridectomy and ...

In a girl with Ullrich-Turner-Syndrome (gonadal dysgenesis 45, XO) and growth hormone deficiency, 10 U of human growth hormone/m2 body surface area/week increased the growth rate from 2.0 to 4.1 cm/year. Doses of up to 36 U/m2/week did not improve the growth rate in 4 girls with Ullrich-Turner-Syndrome who had ...

The dermatoglyphic characteristics of 52 women with the Ullrich-Turner syndrome were studied and compared to those of a control group of 50 normal women. Through the use of discriminant analysis, it is shown that the use of the A'-d ridge count alone has the same efficiency in separating Ullrich-Turner syndrome ...

Hepatic necrosis, usually periportal and mild but occasionally of significant extent, is described in the liver of patients with Reye's syndrome, in addition to diffuse microvesicular fatty change. Review of clinical and pathologic findings of eight cases of Reye's syndrome diagnosed between 1970-1978 showed extensive peripheral lobular necrosis of hepatocytes ...

Post-thyroidectomy bilateral abductor vocal cord paralysis (BAVCP) is a life-threatening syndrome characterized by serious psychiatric manifestations as well as by voice, airway, hypothyroid, and hypoparathyroid symptoms. Of the 128 patients with post-thyroidectomy BAVCP syndrome, 45 (35.2 per cent) had psychiatric complications: 21 of the 128 patients (16.4 per cent) had ...

The streak gonad syndrome is described in detail with a reveiw of the literature and a report on the diagnosis of 38 additional patients. Certain signs and symptoms of the syndrome are always present, ie, female phenotype, primary amenorrhea, infantile breast status, sparse public and axillary hair, infantile external genitalia ...

Reye's syndrome has been thought to represent a childhood illness. Our thesis is that it is a postviral systemic disease which may affect adults as well. A 51 year old woman is presented whose case meets all of the major criteria for Reye's syndrome. The diagnostic criteria for Reye's syndrome ...

Serum somatomedin B was measured by radioimmunoassay in forty-seven normal subjects, twenty-nine patients with acromegaly before and twenty-four after treatment, and eighteen patients with Turner's syndrome. Somatomedin B levels were significantly elevated in untreated acromegaly and in Turner's syndrome compared with the control group; they decreased following treatment of acromegaly. ...

Reye's syndrome (encephalopathy and fatty liver) is generally considered a disease of children. Four patients, aged 16, 18, 19, and 23 years, with Reye's syndrome were initially seen by internists. A viral prodrome followed by vomiting and encephalopathy without focal neurological signs or jaundice clinically suggested Reye's syndrome. Normal findings ...

Seven cases of Reye's syndrome in which aflatoxin B1 was isolated from the blood or liver or both are presented. In two cases aflatoxin B1 was found in the blood during the acute phase of the disease; a finding not previously reported. In six cases aflatoxin B1 was recovered from ...

Purified bovine parathyroid hormone (BPTH) given by injection to five patients with Turner's syndrome, and seven healthy volunteers produced a significant rise in plasma cyclic AMP reacing a maximum within 10 min. In a pseudohypoparathyroid patient there was no increase. Urinary excretion of cyclic AMP exceeded the normal in three ...

The encephalopathy of Reye's syndrome is frequently complicated by increased intracranial pressure (ICP) which may lead to death or severe neurologic sequelae. An understanding of the pathophysiology of increased ICP is necessary to prevent further increases in pressure and to reduce pressure while maintaining adequate cerebral perfusion. Four of seven ...

A case is reported of a successful transplant of kidneys from a 15-month-old girl who died of complications of Reye's syndrome. The patient is well 28 months after the transplant and, despite treatment for 2 rejection episodes, there had been no increase in viral serologic titers nor evidence of the ...

Concentrations of homovanillic acid (HVA) were markedly elevated in the ventricular fluid of 15 children with Reye syndrome (median, 887 ng per milliliter) compared to 7 controls (median, 282 ng per milliliter), but 5-hydroxyindoleacetic acid (5-HIAA) values were comparable (medians of 198 and 189 ng per milliliter, respectively). The ratio ...

Three patients with encephalopathy clinically indistinguishable from Reye syndrome but associated with elevated cold-agglutinin titers and antiglobulin-I autoimmune hemolytic anemia are reported. The patients were treated with exchange transfusions, dexamethasone, controlled hyperventilation, and intracranial pressure monitoring. Liver biopsy specimens in two of the three patients showed fatty infiltration of the ...