1/13. Rokitansky-Kustner-Hauser syndrome - a case report.Rokitansky-Kuster-Hauser syndrome, also called utero-vaginal aplasia, was first described at the beginning of the 19th century by Mayer (1829). It affects 1.2 % of girls and consists of a complete absence of the vagina with severe developmental anomalies of the uterus. Most often it consists of rudimentary cornua uteri, a normal female karyotype 46 XX and secondary female sexual characteristics.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
2/13. Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?On the basis of two recently studied human fetuses and the historical records and remnant 19th century skeletons in the Museum Vrolik in Amsterdam, we have begun an analysis of an unusual form of somite dysgenesis. This disorder includes vertebral and costal segmentation defects with or without (distal) limb malformation and deformities, anogenital anomalies, unusual colonic atresia, abdominal wall and diaphragmatic defect, central nervous system abnormality with large head, and severe neurohypotrophic lower limb deformities. This study suggests the existence of an axial vertebral/costal dysgenesis complex with apparently or nearly normal number of cervical vertebrae. There also is some overlap with lumbosacral agenesis but different from the autosomal recessive entities Jarcho-Levin syndrome or spondylocostal dysostosis. To date, no associated heart defects have been noted.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
3/13. kleine-levin syndrome ethiopathogenesis and treatment.The complex of the symptoms of psychic disorders and of the disorders of sleep, appetite, and food intake often forms the basis of the clinical picture of a mental disease. However, it is only rarely conceived in a complex manner as a set of physiologically interdependent functions. A remarkable proof of the interdependence of these functions is their complex disorder, the kleine-levin syndrome. The first descriptions of the symptoms of the kleine-levin syndrome can be found in the studies of several authors published as early as at the turn of the century. In 1942, the syndrome was designated by Critchley and Hoffmann after Willi Kleine and Max Levin, who defined it precisely in 1925 and 1929. The syndrome of periodic hypersomnia, megaphagia, and psychic disorders, originally described only in young males, was later found in females as well; the original very strict criteria were gradually broadened and complemented to some extent. At present, the most commonly accepted criterion for the diagnosis of the kleine-levin syndrome is the existence of the combined sleep disorder (hypersomnia or insomnia lasting from days to weeks), food intake disorders (megaphagia or anorexia), and various psychic abnormalities accompanying or following the attacks of the affection. We term the syndrome typical if the sleep disorder appears in the form of hypersomnia, food disorder in the form of megaphagia, and if psychic abnormalities are clearly expressed. On the other hand, we term the syndrome atypical if one of the main symptoms is opposite. The incomplete syndrome consists of only two main symptoms. The attacks of the affection set on mostly suddenly, lasting from several days to several weeks, ending suddenly again. The interparoxysmal periods last from several days to several months, sometimes even to several years. The etiopathogenesis of the affection is still unknown. A number of reports indicate a disorder of the diencephalon, perhaps only of the hypothalamus. The pathological-anatomical findings following the death of persons suffering from the disorders of sleep and food intake and from psychic abnormalities mostly reveal lesions in the region of the third brain ventricle. The development of the typical syndrome is benign, however, and morphological studies are not available. The typical kleine-levin syndrome can hardly escape the attention of clinicians owing to the richness and clarity of symptoms. The atypical or discretely expressed forms, however, often remain unrecognized even after a detailed medical examination and may lead to diagnostic uncertainty.(ABSTRACT TRUNCATED AT 400 WORDS)- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
4/13. Isolated and syndromic cryptophthalmos.The association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described cases as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation fraser syndrome. We have seen seven cases of cryptophthalmos syndrome, including three sib pairs. All presented with cryptophthalmos and bilateral renal agenesis in addition to other characteristic associated malformations. A literature review showed 124 cases in which 27 demonstrated isolated cryptophthalmos, while 97 showed a pattern of multiple congenital malformations. We selected four major and eight minor criteria which enabled us to classify 86 of those cases as having cryptophthalmos syndrome with 11 remaining unclassified. Cryptophthalmos demonstrates equal sex distribution, occurrence in sibs, consanguinity in families with more than one affected child, and lack of vertical transmission--strongly suggesting autosomal recessive inheritance. Isolated cryptophthalmos or cryptophthalmos sequence was sporadic in 16 cases and familial in 11. The familial cases occurred in three families and demonstrated vertical transmission. The pathogenesis of this syndrome is unknown. There are similarities to animal models of maternal vitamin a deprivation and defects in programmed cell death. Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmos.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
5/13. Variants of Mobius' syndrome and central neurologic impairment. Lindeman procedure in children.Mobius' syndrome is a complex neurologic disorder; its etiology and characterization have eluded clinicians for over a century. The pure Mobius' syndrome is rare, and the involvement of the sixth and seventh nerves has been found to have a host of associated defects. These include limb and shoulder abnormalities; multiple cranial nerve defects; occasional mental retardation; external, middle, and inner ear abnormalities; laryngeal neurologic defects that cause stridor, obstruction, and aspiration; and severe dysphagia and associated aspiration with life-threatening pneumonias. The children with severe neurologic dysfunction from central nuclear deficiencies were in many respects so similar in their clinical course that they are included in this paper. All of the patients required a tracheotomy to support the airway and to permit tracheobronchial toilet. A feeding gastrostomy was necessary in all but one patient. To counter life-threatening aspiration in the patients with multiple CNS defects, the Lindeman laryngeal diversion was considered the procedure of choice and proved very effective. The details and problems of this procedure are discussed. The aural defects and laryngeal findings in this series of patients are described in detail.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
6/13. Magnetic resonance images in a case of "divergence paralysis".The clinical syndrome of divergence paralysis has been described since the mid 19th century. Speculation still surrounds the possible existence of an anatomical center for divergence function. Our report explores this possibility and describes the magnetic resonance images of a patient with a unilateral 6th nerve palsy who later developed the clinical picture of divergence paralysis.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
7/13. Pathogenesis of intracranial arachnoid cysts.The pathogenesis of intracranial arachnoid cysts is reviewed. light and electron microscopic features of arachnoid cysts are presented in support of the hypothesis of Starkman et al, that these cysts are truly intraarachnoid in location and are formed by splitting or duplication of the arachnoid membrane. Documentary evidence is provided to prove that Richard Bright's original description in 1831 contains these concepts, which have passed unnoticed for nearly a century and a half. A brief description of the meninges and the subarachnoid spaces is given.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
8/13. Familial occurrence of amyotrophic lateral sclerosis, parkinsonism, and dementia.We report here on a 59-year-old man from southwest germany who died after a 14-year course of an illness characterized by progressive dementia, parkinsonism, and amyotrophic lateral sclerosis. Postmortem examination revealed Alzheimer's neurofibrillary tangles in the substantia nigra, innominata, locus ceruleus, parahippocampal gyrus, and less frequently in the hippocampus and the cerebral cortex. Investigation of the patient's pedigree back to the 17th century revealed nine additional family members who had exhibited signs of amyotrophic lateral sclerosis or parkinsonism-dementia or both. The pedigree suggests that a recessive trait with genetic epistasis is responsible for the disorder.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
9/13. Marcus Gunn jaw winking and Duane's retraction syndrome.A three-month-old female presented with the unusual findings of Marcus Gunn jaw Winking Phenomenon and Duane's Retraction Syndrome in the same eye. In considering suggested etiologies for these two disorders, a misdirection of peripheral innervation would account for both these entities co-existing. In reviewing the ophthalmic literature, the association of these disorders was first described around the turn of the century but much less in recent years.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
10/13. angiomatosis osteohypotrophica.Based on a clinical and radiological study of seven patients, a syndrome consisting of congenital hemangiomas with arteriovenous fistulae engaging the soft tissues and the bones, and associated with shortening of the involved extremity, for which we suggest the name angiomatosis osteohypotrophica, is reported. Angioma, varicose veins and/or arteriovenous fistulae with resulting increase in limb have been widely known since the beginning of this century as Klippel-Trenaunay syndrome. Although the patients in this series present all other features of Klippel-Trenaunay syndrome, thinning and shortening of the long bones occurred, resulting in an overall reduction in limb length. Intraosseous hemangiomas in the metacarpal, respective metatarsal bones were common characteristic findings. The arteriograms undertaken in this study showed, in addition to hemangiomas, presence of arteriovenous shunts within the area of the tumour. Their influence on skeletal growth is discussed.- - - - - - - - - - ranking = 1keywords = century (Clic here for more details about this article) |
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