A patient with angiomyelolipoma of the liver, together with radiological evidence of pancreatic, renal and bony lesions characteristic of tuberous sclerosis, is described. Although the patient had no other clinical features of tuberous sclerosis, her daughter was found to suffer from the classical triad of this syndrome and also has ...

This chapter deals with certain aspects of autonomic dysfunction in parkinsonian patients. It provides a classification of autonomic disorders and a brief description of autonomic manifestations. An outline of autonomic investigations, including those to diagnose the Shy-Drager syndrome (multiple system atrophy), is provided. It concludes with comments on terminology and ...

OBJECTIVE: To determine the levels of various biochemical forms of the placental protein, inhibin (total inhibin, inhibin A, and alpha inhibin precursor) and activin in maternal serum samples from fetal Down's syndrome, and to determine which of these analytes most effectively identifies samples from affected pregnancies. METHODS: Maternal serum samples ...

A 22-year-old man had polyneuropathy, facial dysmorphia, atopia and multiple lipomatosis. His mother had neuropathy but not lipomatosis as two of her first cousins. The proband's grandmother had multiple lipomatosis as her own mother and a sister of her mother, but they didn't have neuropathy. This family is an example ...

This review of the literature on mast cells (MC) suggests that when activated they may play a central role in disease syndromes with a neural, immune and endocrine component exacerbated under stress. After a discussion of their biology, differential secretions and interaction with neurons, the effect of stress in causing ...

King-Kopetzky syndrome is characterized by auditory disability with a clinically normal hearing threshold. The main reported disability is hearing speech in the presence of background noise. The degrees of speech-hearing disability in patients with King-Kopetzky syndrome have been investigated with the use of the Social Hearing Handicap Index (SHHI), and ...

Escobar Syndrome, or Multiple Pterygium Syndrome (MPS), is a rare syndrome with multiple congenital anomalies involving the head and neck area and limbs. Affected individuals have multiple pterygia, camptodactyly and/or syndactyly as the main features of this syndrome. Patients with MPS have a characteristic facies, including ptosis, antimongoloid slant of ...

A case of systemic capillary leak syndrome in a 67-year-old woman is reported. The patient suddenly presented with severe edema and hypotension associated with an increased hematocrit and a decreased level of serum albumin, suggesting capillary hyperpermeability. The patient had IgG kappa monoclonal gammopathy in association with not only a ...

Brooke-Spiegler syndrome is characterized by the development of multiple trichoepitheliomas and cylindromas. In addition, multiple spiradenomas have been observed in this autosomal-dominant inherited disease. We report a 53-year-old woman with multiple cylindromas on the head and neck and multiple trichoepitheliomas on the face. Additionally, she had had since birth a ...

Alpers' syndrome is a progressive neurodegenerative disorder with liver disease that usually presents in the first few years of life. Only rarely have patients presented later in life with delayed onset of Alpers' syndrome. Herein we present a case of a 17-year-old male with a progressive 8-month course of severe ...

OBJECTIVE: To investigate whether two forms of the scapuloperoneal syndrome result from genetic defects allelic to facioscapulohumeral dystrophy (FSHD). DESIGN: Two kindreds with scapuloperoneal syndromes underwent clinical, histologic, and electrophysiologic evaluation followed by genetic evaluation with probes closely linked to FSHD. RESULTS: Although the proband in each kindred had facial, ...

Orthostatic hypotension is characterized by low upright blood pressure levels and symptoms of cerebral hypoperfusion. Whereas orthostatic hypotension is heterogeneous, correct pathophysiologic diagnosis is important because of therapeutic and prognostic considerations. Although therapy is not usually curative, it can be extraordinarily beneficial if it is individually tailored. Management of the ...

Maffucci's syndrome is classically defined as the association of multiple enchondromas and hemangiomas. Spindle-cell hemangioendothelioma (SCH), a recently described vascular tumor of purported low malignant potential, has both cavernous hemangioma and Kaposi-like features. We report six patients with Maffucci's syndrome in whom all vascular lesions were SCH. The enchondromas involved ...

We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular disorder is the underlying pathogenesis of Escobar syndrome.

Lemierre syndrome, also known as postanginal sepsis, is an illness characterized by the development of a fusobacterial septicaemia with multiple metastatic foci following an attack of acute tonsillitis. It typically affects previously healthy adolescents and young adults who, following an attack of sore throat, become acutely ill with hyperpyrexia, rigors ...

An uncommon autopsy case involving Proteus syndrome with multiple hamartomatous lesions in a 52 year old woman is reported. At birth, hemihypertrophy was noted on the right side of the face. Leiomyoma of the urinary bladder was extirpated at 37 years of age. She died of sepsis due to a ...

This is a case report of multiple lentigines (Leopard Syndrome) with Chiari malformation, i.e. a herniation of the cerebellum into the foramen magnum. This male patient had generalized multiple lentigines since birth, and the lesions spread steadily, involving the scalp but sparing all mucous membranes. Organ system involvements included heart ...

Multiple organ dysfunction syndrome (MODS) is the primary cause of death in patients admitted to ICUs. Despite the development of better resuscitation, more powerful antibiotics, and more sophisticated methods for organ support, our ability to rescue patients from established MODS has not improved significantly since the syndrome was first described ...

Histocompatibility leukocyte antigens of 32 patients with Rokitansky-Küster-Hauser syndrome were compared with a control healthy population of 100. For analysis chi 2 with Yates' correction and Bonferroni criterion for multiple comparisons were used. Seven antigens were significant in the chi 2 test, but only three were confirmed in the Bonferroni ...

Hemi-asymmetries discussed here include: 1) hemihyperplasia which may affect either one tissue such as bone with secondary regional consequences or multiple tissues on a primary basis such as "hemihypertrophy"; 2) hemihypoplasia which may also affect one tissue such as bone with secondary regional consequences or multiple tissues on a primary ...

Two new species and a new host record for two additional species of deutonymphs of the family Hypoderatidae are described from subcutaneous adipose tissues of a captive African spoonbill, Platalea alba Scopali. Phalacrodectes (Phalacrodectes) platalea Pence & Duncan, n. sp. most closely resembles P. (P.) whartoni Fain and P. (P.) ...

OBJECTIVE: To study neuropathologically Williams syndrome in a 35-year-old patient. METHODS: Sections from multiple regions of the brain were examined with luxol fast blue and hematoxylineosin staining, and selected sections were stained with the silver impregnation technique (Bielschowsky technique) and Congo red. In addition, immunohistochemistry with monoclonal antibodies against glial ...

A 29-year-old Chinese woman developed pyrexia, multiple skin abscesses and bilateral fine nodular lung infiltrates about 3 months after the commencement of therapy for idiopathic thrombocytopenic purpura (ITP). Pseudomonas aeroginosa was isolated from the abscesses but multiple blood and sputum cultures, as well as a broncho-alveolar lavage did not yield ...

Multiple endocrine neoplasia type 2A (MEN 2A, Sipple syndrome) is an autosomal dominant phakomatosis and is most likely a paracrinopathy. The cardinal manifestations of MEN 2A--medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism--indicate that the condition is one of the inherited cancer syndromes. Cutaneous, lichen amyloidosis-like lesions place MEN 2A among the ...

The serum glycoproteins in three patients with the carbohydrate-deficient glycoprotein (CDG) syndrome were examined using isoelectric focusing in polyacrylamide gels, SDS-PAGE, and a two-dimensional electrophoretic technique. Increases in isoforms with higher isoelectric points (pI's) were observed in all asparagine-N-linked glycoproteins tested. Abnormal components of transferrin, antithrombin III and orosomucoid had ...

We report a case of association of a brain tumor with multiple colorectal polyposis and offer an analysis of the relevant literature with a view to revising the classification of the syndrome in relation to familial multiple polyposis and Gardner's syndrome. Differences emerged, depending on the brain tumor type, which ...

Multiple evanescent white-dot syndrome, acute idiopathic blind-spot enlargement syndrome and multifocal choroiditis (pseudo-ocular histoplasmosis syndrome) are fundus diseases of unknown etiology. A single etiological agent or group of similar agents is thought to be responsible for these relatively rare manifestations. A 35-year-old male with associated symptoms of enlargement of the ...

Clinical and electroencephalogram (EEG) observations permit a hypothesis for the pathophysiology of infantile spasms. The triggering area(s) for spasms is probably cortical. Diffuse hyperexcitability of the immature cortex and/or diffusion of the epileptic process from a focal abnormality would allow development of hypsarrhythmia. Cortical maturation from posterior to anterior might ...

We describe the results of a follow-up study on patients with hysteria using the Minnesota Multiphasic Personality Inventory (MMPI) to evaluate the multiple complaints of these patients. MMPIs were obtained from 29 women with primary affective disorder and 37 women with Briquet's syndrome as part of a follow-up study of ...

We report a 27-year-old Caucasian woman with Jaffe-Campanacci syndrome. She presented with multiple café-au-lait spots and multiple non-ossifying fibromata of the bones, noted on radiographs and proven by tissue biopsies. Only the left side was involved. She also suffered from moderate scoliosis, stenosis of the aortic isthmus, chylothorax, and a ...

Perifollicular fibroma is a cutaneous hamartomatous proliferation of the pilar connective tissue sheath. We describe a patient with multiple perifollicular fibromas and analyze the literature on this topic. Histologically, perifollicular fibroma is characterized by a concentric arrangement of collagen fibers surrounding a generally unaltered hair follicle. Clinically, it is usually ...

A case of POEMS syndrome and Castleman's multicentric disease is reported. Multiple long-standing cutaneous lesions, histologically similar to histiocytomas, were the initial manifestation of POEMS syndrome. A high incidence of angiomatous lesions associated with POEMS syndrome has already been established. To our knowledge, this report is the first report to ...

The purpose of this review was to critically evaluate research on the psychogenic origins of multiple chemical sensitivities (MCS) syndrome. Using as keywords environmental illness, multiple chemical sensitivities, and clinical ecology, two databases--PsychLit and Medline--were searched by computer; reference lists of all articles located were also searched manually. Ten articles ...

Two patients with tuberous sclerosis had multiple semispherical polyps in the large intestine, predominantly in the rectosigmoid colon. These were hamartomas with an excess of smooth muscle fibers in the stroma. In addition, the 21-year-old man had multiple tiny protrusions in the esophagus and oral fibroepithelial polyps. In the 31-year-old ...

We report a case of Mirizzi syndrome due to a cystic duct stone occurring in a 66-year-old man in the presence of multiple debilitating medical conditions which precluded surgery. The patient was successfully treated by percutaneous stone removal and made a swift and uneventful recovery. This is the first report ...

Postpump syndrome is a systemic manifestation which occurs somewhat frequently after cardiac surgery when cardiopulmonary bypass (CPB) is used. It is probably caused by platelet injury secondary to plasma contact with the CPB machinery. Damaged platelets aggregate and result in small emboli which course throughout the body, causing short-lived infarcts ...

In Down syndrome screening by maternal serum human chorionic gonadotropin (hCG) determination at 15, 16, 17, and 18 weeks of gestation, we prospectively examined 23,369 sera from white (21,549), North African (970), black African (525), and Asian (325) patients. When expressed as multiples of the median (MOM), no difference was ...

Most of its clinical manifestations are the result of hypokalemia. The diagnosis is one of exclusion, mainly of surreptitious vomiting and diuretic abuse. The primary cause remains unknown but the most likely candidate is reduced sodium chloride reabsorption in the thick ascending limb of Henle's loop. Current therapy focuses on ...

Glomeruloid hemangioma is a histologically distinctive cutaneous hemangioma that recently has been associated with POEMS syndrome. We report a further case in which POEMS syndrome was signaled by multiple eruptive angiomas of the glomeruloid type. Histopathology showed multiple dilated vascular spaces containing a conglomerate of capillaries resulting in a structure ...

The abysmal survival rates for the first barking foals described more than 60 years ago were probably due to the cumulative effects of asphyxia on multiple organ systems. Successful treatment of asphyxiated foals requires recognition of periparturient conditions associated with the syndrome and appreciation of the spectrum of clinicopathologic complications ...

Significant biventricular cardiac dysfunction occurs early in sepsis and multiple organ dysfunction syndrome. Multiple mediators and physiologic derangements result in the characteristic hemodynamic alterations associated with sepsis. The ability of the myocardium to compensate for this failure and continue to generate adequate flow to meet tissue oxygen needs defines the ...

Using indocyanine green angiography we examined two patients with multiple evanescent white-dot syndrome. Both patients had unilateral loss of vision and a fundus appearance typical of multiple evanescent white-dot syndrome. Fluorescein angiography in both patients disclosed a patchy hyperfluorescent pattern at the level of the retinal pigment epithelium. Using indocyanine ...

Today, bunion surgery is still controversial. Considering that a bunion deformity in fact may be a result of multiple causes, the rationale of the currently applied techniques of surgical treatment has not been conclusively demonstrated. In view of the known hypermobility syndrome of the first ray that results in insufficient ...

Kuru, Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler syndrome (GSS) are transmissible dementias affecting humans characterized neuropathologically by intraneuronal vacuolation, spongiform change, astrocytic hypertrophy and hyperplasia and the variable presence of amyloid plaques. It has been suggested that microglia are amyloid-forming cells, which play an essential role in amyloid plaque formation. To ...

A 12-year-old patient with a severe traumatic brain injury developed heterotopic ossification (HO) with rapidly decreasing range of motion in multiple joints despite intensive passive range of motion exercises and the use of nonsteroidal antiinflammatory drugs (NSAIDs). His alkaline phosphatase was markedly elevated. Etidronate, 20mg/kg/d was used to control the ...

Ageusia and the cheirooral syndrome developed in a patient with a relapse of multiple sclerosis. Magnetic resonance imaging revealed an area of demyelination in the thalamus. This lesion presumably affected the most medial part of the ventralis posterior nucleus, where taste information is located. Given the proximity of the taste ...

A patient presenting with dependence on opium poppy tea infusion is reported. Poppy tea drinking, although previously described in certain parts of the UK, rarely presents in the form of a dependence syndrome. Issues relating to the management of poppy tea dependence are discussed, including the results of existing laboratory ...

Topics discussed in this article include osteogenic sarcoma, osteoid osteoma, osteoblastoma, chondrosarcoma, chondromyxoid fibroma, chondroblastoma, chondroma, Ollier's disease, Maffucci's syndrome, osteochondroma, hereditary multiple exostoses, unicameral bone cyst, fibrous dysplasia, Albright's syndrome, nonossifying fibroma, giant cell tumor, Ewing's sarcoma, and metastasis. Numerous radiographs, CT scans, MR images, arteriograms, and photomicrographs supplement ...

Pancreatic fibrosis in patients with alcoholic dependence syndrome was studied histopathologically. In 30 of 41 autopsied patients with alcoholic dependence syndrome, fibrosis was observed despite the absence of clinical pancreatitis. The fibrosis was categorized into three types, according to Martin's classification: intralobular sclerosis in 15 cases, perilobular sclerosis in seven ...

The authors report a patient presenting with a 1-week history of paresis of upward gaze as his initial manifestation of demyelinating disease. They stress that: 1) multiple sclerosis can present as Parinaud syndrome (paralysis of upward gaze); and 2) it is important to rule out a non-contour-deforming intraaxial midbrain lesion ...