1/19. MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis.Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.- - - - - - - - - - ranking = 1keywords = comment (Clic here for more details about this article) |
2/19. trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome.The C syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome first described in sibs. The inheritance has been assumed to be autosomal recessive. Several authors have commented that the combination of anomalies found in the conditions suggest an underlying chromosomal anomaly and in a few apparent cases chromosome anomalies have been described. Our patient had findings consistent with the C syndrome and a duplication of 3p by use of subtelomere probes. This shows that new cytogenetic techniques continue to be important in defining the underlying cause of MCA/MR conditions.- - - - - - - - - - ranking = 1keywords = comment (Clic here for more details about this article) |
3/19. Diffuse esophageal leiomyomatosis: another cause of pseudoachalasia.The patient was a 22-year-old woman who had presented in early childhood with gastroesophageal reflux and who subsequently underwent surgery. It was commented upon by the surgeons at that time that the esophagus was abnormally thickened. The patient subsequently presented during her first pregnancy with a vulval tumor, which proved histologically to be a leiomyoma. She was also found to have a grossly dilated esophagus and was thought to have achalasia. However, endoscopic ultrasound imaging showed gross hypertrophy of the mid- and distal esophageal wall, with only mild symptoms of dysphagia, which had been long-standing. The appearance of the esophagus was consistent with diffuse esophageal leiomyomatosis. In view of the associated vulval leiomyoma, the patient demonstrated esophagovulvar syndrome.- - - - - - - - - - ranking = 1keywords = comment (Clic here for more details about this article) |
4/19. growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature.We report a case of Feingold syndrome with oesophageal atresia and microcephaly. Marked short stature was present at the age of 9 years. Although short stature has not previously been commented upon as a feature of this syndrome, a review of the literature indicates that it has occurred in several previously reported cases. Of the 18 cases in the literature for which height was recorded, three (16.7%) had height on or below the 0.4th centile, while nine (50%) had height on or below the 10th centile. We suggest that short stature is likely to be a phenotypic feature of Feingold syndrome.- - - - - - - - - - ranking = 1keywords = comment (Clic here for more details about this article) |
5/19. The silent sinus syndrome.Silent sinus syndrome is a rare clinical entity typically characterized by spontaneous and progressive enophthalmos and hypoglobus caused by an alteration of the normal orbital architecture and function from maxillary collapse in the setting of the chronic maxillary sinus hypoventilation. The authors report an unusual case revealed by mild dental pain, present the imaging (before, during and after the development of the disease), discuss the different theories related to pathogenesis and comment the treatment.- - - - - - - - - - ranking = 1keywords = comment (Clic here for more details about this article) |
6/19. Unusual case of Fahr syndrome with motoneuron disease.After commenting briefly on the literature on Fahr syndrome, we describe a patient with an unusual association of cerebral calcifications and motoneuron disease. We discuss the possible role of brain calcifications in the clinical picture and stress the importance of the routine use of CT scanning and MRI to show further similar associations, possibly leading to a better understanding of the pathophysiology.- - - - - - - - - - ranking = 1keywords = comment (Clic here for more details about this article) |
7/19. Acute febrile neutrophilic dermatosis in childhood (Sweet's syndrome).We report a case of Sweet's syndrome in childhood. Our patients suffered from repeated fevers, chest infections and had characteristic erythematous plaques. The severity of his illness increased with age and warranted oral steroid treatment. We review 16 cases reported to date in the literature and comment on the management and prognosis of the disease in childhood.- - - - - - - - - - ranking = 1keywords = comment (Clic here for more details about this article) |
8/19. Sneddon's syndrome: a rare cause of diffuse vasculopathy. A case report with review of the literature.We report a case of Sneddon's syndrome in a 39-year-old woman who developed recurrent cerebral ischaemic events associated with a livedo racemosa. We describe the clinical and radiological features of this rare vasculopathy. We also comment on the nosological place of the disorder and its possible association with antiphospholipid antibodies.- - - - - - - - - - ranking = 1keywords = comment (Clic here for more details about this article) |
9/19. Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases.The development of chronic renal failure because of parenchymatous renal disease in patients in 46,XY gonadal dysgenesis was noted initially by Drash et al [J Pediatr 76:585-593, 1970]. However, we think that some of the cases reported as examples of the Drash syndrome are a different disorder. In this paper, we review six previously reported patients with streak gonads, pseudohermaphroditism, and renal failure. In several of these patients the diagnosis was established only after a successful kidney transplantation during evaluation for primary amenorrhea. gonadoblastoma arising from the streak gonad was noted in five of the six patients. "Frasier" syndrome would be a suitable term to denote this association after Frasier et al, who described two patients in 1964. We recommend evaluation of the gonads in prepubertal girls with end-stage renal disease at risk for this syndrome.- - - - - - - - - - ranking = 4keywords = comment (Clic here for more details about this article) |
10/19. Neu-Laxova syndrome: report of a case and comments.We report on an infant with Neu-Laxova syndrome [Neu et al, 1971; Laxova et al, 1972; Povysilova et al, 1976; Lazjuk et al, 1979; Scott et al, 1981; Fitch et al, 1982; Mueller et al, 1983; Turkel et al, 1983; Paes et al, 1985], and emphasize the ichthyotic skin lesions as a prominent characteristic change in this syndrome and as the probable cause of some of the other findings. Also, we call attention to the increased fatty tissue beneath the epidermis and the atrophic muscles there embedded. These findings should be considered in the diagnosis of this syndrome.- - - - - - - - - - ranking = 4keywords = comment (Clic here for more details about this article) |
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