We are reporting what we believe to be the first case of moya moya disease (hemiplegia associated with supraclinoid carotid stenosis and multiple cerebral telangiectasia) in a child with Down's syndrome. On cerebral angiography, multiple collateral vessels and rete mirabile (anastomosis of meningeal vessels with internal cerebral vessels) were noted, ...

Biopsy specimens of normal skin and lentigines from an 82-year-old man with multiple lentigines syndrome were examined with light and electron microscopes. Giant melanosomes were found in dermal melanophages, melanocytes, and keratinocytes in all epidermal layers. Morphologic characteristics of these melanosomes are described, and other conditions in which they have ...

A case of Maffucci's syndrome with cutaneous, bony and neurological complications is reported. The patient had lymphangiomatosis at birth and developed multiple cutaneous haemangiomas and osteochondromas during childhood. She also developed multiple neurological defects, including cranial nerve palsies due to an intracranial osteochondroma. The occurence of mesodermal dysplasias and neoplasias ...

A case of WPW syndrome associated with recurrent attacks of paroxysmal tachycardia for 25 years, is reported. Vectorcardiograms recorded after an attack offered evidence of multiple anomalous pathways between the left atrium and the left ventricle. The high sensibility of the angle recording channels of the triaxicardiometer, i. e. the ...

A general analysis is made of the concept of nosologic groups. It is concluded that, even when 'artificial',they may prove to be useful research, didactic and differential diagnosis purposes. Nosologic groupings must, however, progress toward the finding of 'phenotypic communities' whose component syndromes share multiple foci of dysmorphogenetically intimate phenotypic ...

Clinical signs of hyperviscosity syndrome in a 6-year-old dog included listlessness, polydipsia, anorexia, vomiting, and recurrent bleeding from the gums. Fundoscopy showed the typical retinal changes associated with this syndrome. A polymeric IgA cryoglobulin characterized in the dog's serum was later isolated and structurally studied. It was found to contain ...

A patient with multiple cutaneous hemangiomas and skeletal dyschondroplasia (the Maffucci syndrome) was found to have a pituitary chromophobe adenoma, a parathyroid adenoma and two other neoplasms. The presence of two endocrine tumors suggested the syndrome of multiple endocrine adenomatosis, and raised the issue of an etiologic relationship between this ...

We report the case of a patient with multiple endocrine neoplasia type three, which was first diagnosed by members of the department of Ophthalmology. He was found to have multiple mucosal neuromata and medullary thyroid carcinoma. The ocular components of this syndrome include visible corneal nerves, conjunctival neuromas, thickened lids, ...

It has been suggested that lead may be a cause of multiple sclerosis, but confirmation of this hypothesis is difficult to obtain as lead is so widely present both in the environment and in many human tissues.In this study 22 patients with multiple sclerosis were compared with 22 controls. Lead ...

Administration of PMSG or FSH to hypophysectomized hens prevented the multiple ovulation (2-3 ova) induced by an OIH. Inhibition of multiple ovulation did not occur when FSH was injected 1/2-2 hr before the OIH injection. The results are believed to support the theory that withdrawal of FSH stimulation sensitizes a ...

In the present study, a peculiar fibromatosis cutis in two siblings has been reported, the dermatosis being characterized by innumerable perifollicular fibromas on face, neck and trunk as well as multiple fibromata pendulantia. Since the father allegedly had skin lesions resembling those of his two affected children, an inherited condition ...

This paper is intended as an examination of Dr. Stamm's (1975) paper and of Dr. Jules Glenn's discussion of Peter Shaffer's previous work. Its premise is the futility of subjecting Equus to a traditional psychoanalytic investigation, as a product of the playwright's unconscious, when the play represents a skillful, highly ...

A case of multiple endocrine adenomatosis (MEA) of mixed type is presented. The syndrome, observed in a 65 year-old female, consisted of multiple neurofibroadenomatosis, medullary thyroid carcinoma, multiple adenomata of the parathyroids, adrenal cortical adenoma and small cell anaplastic bronchogenic carcinoma. Thus, it was composed of type 1 as well ...

The case of a patient with two unusual dermatologic entities, multiple glomus tumors and the painful purpura of Gardner-Diamond syndrome, is reported. The diagnosis of multiple glomus tumors was confirmed by biopsy, and the Gardner-Diamond syndrome was confirmed by reproduction of the painful purpura with the intradermal injection of the ...

2 brothers with possible homozygous multiple cartilaginous exostosis (MCE) are reported. The MCE-PD-(Peripheral Dysostosis) syndrome is discussed. A family (father, daughter and son) with Metachondromatosis is presented, and the tendency to spontaneous remission in this condition is emphasized. A "second thought", when considering the diagnosis of mce, seems worthwhile.

Nine cases of multiple sclerosis with paroxysmal disorders were treated with acetazolamide. In most cases a brain-stem origin of the seizures was suggested by their particular pattern: crossed syndromes (facial spasm associated with contralateral weakness of the arm and leg, paroxysmal paraesthesiae in one side of the face and weakness ...

Uncomplicated hyperviscosity syndrome secondary to hypergammaglobulinemic states seems to be associated with rouleaux formation on the peripheral blood film and a normal or near normal erythrocyte sedimentation rate. Conversely, the concomitant finding of rouleaux formation with a normal erythrocyte sedimentation rate is highly suggestive of the hyperviscosity syndrome. The theoretical ...

The possibility of linkage was tested in 3 large kindreds with Waardenburg syndrome type I against the ABO locus. Loose linkage is probably present; the recombination fraction in males, females, and both sexes combined seems to be approximately theta' equals 0.175, theta equals 0.255, and theta', theta equals 0.20, respectively. ...

Three cases of Larsen's syndrome with retospective diagnoses have been described. All of them had both the clinical and radiographic signs characteristic for the syndrome, namely flat, hyperteloric facies, multiple dislocations of the joints, club foot deformity, and long cylindrical fingers. The radiographic findings were generalized and diagnostic in all ...

A PATIENT IS DESCRIBED IN WHOM DIARRHEA AND FEVER DUE TO Salmonella heidelberg was followed by a series of episodes of cholangitis due to the same organism. Cholecystectomy and prolonged courses of antibiotics failed to eradicate the infection, and the presence of multiple intrahepatic biliary cysts (Caroli's syndrome) was eventually ...

The myeloma kidney is characterized by casts in the distal and collecting tubules. The glomeruli are hardly affected unless amyloidosis is present. When the glomeruli are involved, the proteinuria is nonselective and, in some cases, the whole paraprotein is excreted in the urine. Nephrocalcinosis may be present and focal myeloma ...

The simultaneous detection of multiple myeloma and acute myeloblastic leukaemia is reported in two patients who had not undergone chemotherapy. Histological examinations confirmed the infiltration by both myeloblasts and plasma cells. Only the latter contained monoclonal immunoglobulin chains at immunofluorescent studies. The possible relation between the two distinct proliferative processes ...

Glycosaminoglycans were isolated from the urine of three patients with Hurler's, Hunter's and Morquio's syndromes and also from the liver and spleen of the case of Hurler's syndrome by a procedure avoiding further degradation. A method of determining the proportions of dermatan sulphate, heparan sulphate and chondroitin sulphate in each ...

Over a decade has elapsed since the senior author became interested in the multiple nevoid basal cell carcinoma syndrome. During the intervening years many facets of the syndrome have been examined and the evidence weighed concerning new findings. The original triad of signs, multiple nevoid basal cell carcinomas, jaw cysts ...

Initially described in part by Wagenmann and by Froboese almost 50 years age, the syndrome of a) multiple mucosal neuromas, b) pheochromocytoma, c) medullary carcinoma of the thyroid and d) marafanoid build with muscle wasting of the limbs, was enlarged by Williams and Pollock, Gorlin et al, Schimke et al ...

Argentaffin carcinoma (carcinoid tumour) of the ileum has been found to be associated with ischaemic ileal necrosis due to elastic sclerosis of the mesenteric blood vessels. This vascular change was present in 17 out of 25 ileal tumours, all of them invasive, but was absent in 75 appendicular, rectal, and ...

The rise in ketamine misuse means more health professionals will need to diagnose, refer and treat ketamine bladder syndrome. Prevention and raising awareness of the problem among multidisciplinary teams will help limit damage to the bladder as well as making treatment and management more effective.

BACKGROUND: Neuromyelitis optica is an inflammatory demyelinating disease with generally poor prognosis that selectively targets optic nerves and spinal cord. It is commonly misdiagnosed as multiple sclerosis. Neither disease has a distinguishing biomarker, but optimum treatments differ. The relation of neuromyelitis optica to optic-spinal multiple sclerosis in Asia is uncertain. ...

Overactive bladder syndrome has a negative impact on quality of life. This article discusses a definition of the condition and its the prevalence and aetiology, as well as some of the more common behavioural therapies. Although there is a good evidence base for bladder retraining, there is often conflicting research ...

Juvenile polyps occur in adults and infants; where multiple, they may be complicated by progressive cachexia with hypoalbuminemia and electrolyte depletion. We report a fatal case of multiple juvenile polyposis with cachexia, alopecia, and megalocephaly presenting in a 9-month-old infant, and review 2 additional cases in infancy. A similar syndrome ...

No significant difference was found between 50 consecutive patients with multiple sclerosis and matched controls in respect of previous infection with rubella or measles and chicken-pox, or of previous vaccination and immunizing injections. Significantly more patients had a past history of herpes zoster compared with the controls.