We report on a fetus with multiple pterygia in the popliteal, antecubital, intercrural, axillary, and nuchal region, arthrogryposis, camptodactyly, anal atresia, hypospadias, ambiguous genitalia, and neonatal death. Arthrogryposis was much more pronounced at the left than at the right side. Moreover, there was gross body asymmetry with hypoplasia of the ...

A 58-year-old man with basal cell nevus syndrome had variously sized basal cell epitheliomas (BCEs), mostly of the superficial type, on his chest, back, and lumbar areas. BCEs on the lumbar area were treated with 5-fluorouracil (5-FU) cream which was applied daily under occlusive dressings (ODT). Complete erosion occurred in ...

A 15-day-old female child is presented with multiple joint dislocations who died during the neonatal period. She had additional features of metaphyseal dysplasia, deficient calcification of vault of the skull, growth retardation, a natal tooth, lymphoedema and facial dysmorphism. This may constitute a new syndrome of multiple joint dislocations with ...

A girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS syndrome, whose pathogenesis is represented by ...

Fifteen patients with neurofibromatosis type one (NF1) and West syndrome (WS) were studied. The evolution of WS was clearly different from that seen in the other neurocutaneous syndromes, especially tuberous sclerosis. Steroids were efficacious and spasms disappeared. There was no relapse after discontinuation of steroids and antiepileptic drugs were successfully ...

Two cases, one with probable Pick's disease and one with herpes simplex encephalitis, are presented, focusing on Gogi (word-meaning) aphasia-like syndrome as their salient clinical feature. Their aphasic symptoms were characterized by impaired kanji processing and preserved kana processing in writing and oral reading known as a defining feature of ...

The condition of a 45-year-old woman with diminished visual acuity, multiple yellowish-white dots distributed in the paramacular area, and macular granularity OD was diagnosed as multiple evanescent white dot syndrome. We reviewed the literature and compared our findings with those of the previously reported cases. A differential diagnosis with other ...

Midwest dermatologists minimally initiate or carry on in-depth genealogical investigations of patients with the cancer associated genodermatosis, the familial atypical multiple mole melanoma (FAMMM) syndrome. Their conceptualizations of the FAMMM syndrome varies over a wide spectrum and results in a range of clinical behaviour patterns in the care of these ...

Brooke-Spiegler syndrome is an autosomal dominantly inherited disease characterized by the development of multiple trichoepitheliomas and cylindromas. Among other neoplasms that may also occur in Brooke-Spiegler syndrome are basal cell carcinomas and spiradenomas. Spiradenomas and cylindromas have so many features in common that they have been regarded as variants of ...

BACKGROUND: Rothmund-Thomson syndrome is an autosomal recessively inherited disease with multiple skin disorders, and little has been known about the cause of the clinical features. We cultured the cells from a patient with Rothmund-Thomson syndrome and examined the ultraviolet repair characteristics. OBSERVATIONS: A 5-year-old boy with Rothmund-Thomson syndrome is presented. ...

BACKGROUND: Crystalglobulinemia syndrome (CS) is a rare vasculopathy that may arise as a complication of multiple myeloma (MM). METHODS AND RESULTS: A patient with multiple myeloma in whom crystalglobulinemia syndrome was the initial manifestation with polyarthralgias, cutaneous ulceration, and lower limb ischemia requiring bilateral amputations is reported. CONCLUSION: The rare ...

The intraspinal use of methylprednisolone acetate (Depo-Medrol, Upjohn Company, Kalamazoo MI) began in 1960, followed 10 years later by reports of complications. In 1960, methylprednisolone acetate was first injected by the epidural route to treat low-back syndromes. Then in 1961, the intrathecal route was more widely used to treat arachnoiditis ...

A study on descriptive epizootiology of the viral necrotising hepatitis of hares, European brown hare syndrome (EBHS) was conducted in Sweden. Two thousand eight hundred eighteen hares were necropsied between 1980 and 1989. European brown hare syndrome was diagnosed histologically in 234 (14%) of 1644 European brown hares (Lepus europaeus) ...

A study was conducted to identify clinical diagnostic criteria that experts regarded as major for categorizing patients as having multiple chemical sensitivities (MCS) syndrome. A cross-sectional survey of 148 medical practitioners with an interest in, or familiarity with, the condition was performed scoreable questionnaires were returned by 60.1% of those ...

BACKGROUND: The POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome and osteosclerotic myeloma (polyneuropathy and sclerotic bone lesions) may both be manifestations of plasma-cell dyscrasia, but the interrelation of these diseases is not clear. We therefore set out to define the clinical spectrum of disease in patients with ...

Multiple pterygium syndrome is a rare, inherited disorder manifested by growth retardation, facial or genital anomalies, and widespread musculoskeletal deformities. Pterygia are the predominant hallmark of the syndrome. Five children with multiple pterygium syndrome were treated from 1978 to 1987. Treatment involved both upper and lower pterygia and contractures. The ...

BACKGROUND: Several recent articles have described syndromes in which there is enlargement of the blind spot associated with retinal lesions. These have included the multiple evanescent white dot syndrome, acute macular neuroretinopathy, acute idiopathic blind spot enlargement syndrome, and multifocal choroiditis or pseudo presumed ocular histoplasmosis syndrome (pseudo POHS). METHODS: ...

The syndromes of multiple endocrine adenopathy (MEA) have associated endocrine abnormalities that are similar to the clinical syndromes based in the same hyperfunctions of parathyroid, pancreatic islets, thyroid C-cell and chromaffin tissue seen in sporadic cases. The natural history, histopathology and management of these problems when they occur in the ...

The multiple chemical sensitivities syndrome is a symptom complex characterized by emotional depression, short-term memory loss, acquired intolerance to environmental agents such as aerosolized petrochemicals and foods, and alteration in metabolic rate associated with increased body mass. This syndrome can be caused by multiple etiologic agents. With careful evaluation, it ...

Fifty-nine cases with infantile autism/autistic disorder were subclassified according to associated medical condition (fragile-X, tuberous sclerosis, neurofibromatosis, hypo-melanosis of Ito, Moebius syndrome, Rett syndrome, and a 'new' syndrome associated with a marker chromosome). It was concluded that, even within a group of cases fitting currently accepted criteria for autism, there ...

The polyglandular autoimmune syndromes are a rare, inherited constellation of disorders characterized by multiple endocrine end-organ failures. Since these individuals have more than one endocrine failure, it is important to recognize these syndromes in clinical practice and be alert to the possibility of a second major endocrine organ failure after ...

A 40-year-old woman with Reiter's syndrome had low-grade fever, a psoriasislike eruption on feet and hands, and multiple esophageal ulcers. She had keratoderma blennorrhagica, aseptic vaginitis, and ileosacral arthritis, but no ocular lesions. The patient was HLA-B27 negative. Radiographic and endoscopic examinations of the upper gastrointestinal (GI) tract showed multiple ...

A 4-month-old female, birth weight 3150 g, had a history of maternal eclampsia, multiple placental chorioangiomas, and persistent neonatal hypoglycemia. Macroglossia and enlarged kidneys were recorded. Autopsy revealed multiple hepatic hemangioendotheliomas (type 1), massive cardiomegaly, and bilateral nephromegaly. Both kidneys were lobulated with active glomerulogenesis and clusters of immature tubules ...

Psychopathological alterations associated with symmetrical basal ganglia sclerosis have been well characterized. A preponderance of a so-called organic affective syndrome has been reported (König 1989), but schizophrenic syndromes have also been described, in particular in young patients (Cummings et al 1983). Symmetrical basal ganglia sclerosis may be secondary to ischemia, ...

Electrophysiologic findings in a case of multiple evanescent white-dot syndrome were studied. A 37-year-old woman presented with multiple white dots, granularity of the macula, and optic disc swelling in her left fundus. The electroretinogram and electro-oculogram revealed abnormal findings indicative of changes in the retinal pigment epithelium and photoreceptors. In ...

A multifactorial analysis of morphological findings was performed on 153 cases of medullary thyroid carcinoma (MTC). The aim of the study was to utilize histological criteria to discriminate between MTC associated with multiple endocrine neoplasia type 2A (MEN 2A) and that associated with the inherited MTC only syndrome. The presence ...

Amyotrophic lateral sclerosis (ALS) is a clinical entity differentiated during the last few years into definite, probable, possible and suspected ALS. There are many hypotheses trying to explain its genesis: slow virus hypothesis, trace elements, immunologic and trophic factors, excitotoxins, metabolic influences, DNA anomalies, and so on. It is necessary ...

The familial nature of multiple endocrine neoplasia syndromes (FMEN) has been recognized for some time but little is known about their cause. Recent application of new molecular techniques has mapped FMEN syndromes to specific chromosomes and provided evidence for the mechanism through which neoplasia occurs. In this review, we describe ...

The Langerhans cells in the lentigines of four patients with the Leopard syndrome contained large membrane bound accumulations of melanin granules. Giant melanosomes were only seen in two patients. The patients had no immune-based symptoms relating to their lentigines. The Leopard Syndrome, also known as multiple lentigines syndrome, progressive cardiomyopathic ...

Although the genera Sergentomyia, Phlebotomus and Lutzomyia are widely accepted, there is no character state which distinguishes them. Many Sergentomyia spp. have erect abdominal tergal setae normally characteristic of Phlebotomus; some Sergentomyia spp. lack cibarial armature "characteristic" of the genus, while some Phlebotomus spp. show this armature. Lutzomyia is "defined" ...

This report describes a rare complication after the resection of a tumor of the posterior fossa, the "one-and-a-half" syndrome. The one-and-a-half syndrome is a disturbance of horizontal eye movements in which patients have lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other direction. The patient was a ...

The syndrome of osteolytic lesions and hypercalcemia is commonly associated with well-differentiated B-cell neoplasms, such as multiple myeloma. The association of this syndrome with high-grade non-Hodgkin's lymphoma is rare. We have described a 20-year-old man with a non-T-cell lymphoblastic lymphoma manifested by extensive osteolytic lesions and hypercalcemia (serum calcium value ...

We described a 5-month-old girl with Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. She was admitted to our hospital because she suffered from intractable flexor spasms. Physical examination revealed craniofacial asymmetry, left auricular deformity, scoliosis, and remarkable hypotonia with psychomotor retardation. Abnormal ophthalmological findings included chorioretinopathy with ...

Recent paleontological expeditions to the Ankarana range of northern Madagascar have recovered the partial remains of four individuals of a newly recognized extinct lemur, Babakotia radofilai. Craniodental and postcranial material serve to identify Babakotia as a member of the palaeopropithecids (also including the extinct genera Palaeopropithecus, Archaeoindris, and Mesopropithecus). Living ...

Hemolytic bacteria, phenotypically related to organisms previously identified as Pasteurella haemolytica and tentatively named Taxon 20, were isolated from cases of purulent bronchopneumonia and from conjunctivitis in European brown hares (Lepus europaeus). The bronchopneumonia, sometimes accompanied by lesions in other organs, occurred without other concomitant disease. The conjunctivitis was found ...

Enlargement of the blind spot without optic disc edema has been reported in patients with no other ocular findings (acute idiopathic blind spot enlargement) and in patients with multiple evanescent white dot syndrome. We describe three patients with multifocal choroiditis who developed acute symptomatic enlargement of the blind spot. All ...

A 37-year-old man presented with an acute amnestic syndrome of Korsakoff's type and an upper brain-stem oculomotor syndrome. After a moderate improvement with steroid therapy, he developed progressive behavioural changes due to a frontal lobe syndrome, in addition to motor and visual impairment. Memory performance was investigated on several occasions ...

Major syndromes in which cutaneous and extracutaneous nervous neoplasms are frequently associated include: 1) dysgenetic syndromes or phacomatoses (tuberous sclerosis and neurofibromatosis), 2) multiple schwannoma syndromes (schwannomatosis and Carney's complex), 3) multiple mucosal neuromas syndrome, 4) neurocutaneous pigmentary syndromes (Peutz-Jeghers-Touraine syndrome and neurocutaneous melanosis), and 5) sundry associations (cutaneous meningiomas ...

Occipitofrontal circumference (OFC) was strongly correlated with height in 72 normal Caucasian men (r = 0.28, P = 0.018) and 78 women (r = 0.53, P less than 0.0001). OFC:height ratios were approximately normally distributed in each sex with a mean of 0.326 (standard deviation [sd] = 0.0139) in males ...

Peripheral neuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes are often the presenting features of the POEMS syndrome. Approximately 50% of these are associated with osteosclerotic myeloma, a rare variant of multiple myeloma and some with Castleman's disease, an unusual lympho-proliferative disorder. The underlying pathogenetic mechanisms have not been elucidated ...

A patient with the Noonan-like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. ...

Hurler syndrome is a mucopolysaccharide disorder resulting from an heritable deficiency in alpha-L-iduronidase, an enzyme required in the catabolism of heparan sulfate and dermatan sulfate glycosaminoglycan (GAGs). The resultant intracellular accumulation of GAG leads to disruption of the intracellular and extracellular environment and dysfunction of multiple organ systems. Among the ...

Bacillus cereus is an environmentally ubiquitous, Gram-positive, spore-forming bacillus responsible for 2 distinct foodborne disease syndromes as well as other manifestations of pathogenicity. The rapid-onset, "emetic," foodborne-disease syndrome is associated with an emetic toxin; the delayed-onset, "diarrheal" syndrome is associated with elaboration of enterotoxin. The majority of methods for detection ...

Between October 1984 and January 1985, the largest outbreak of Kawasaki syndrome reported to date in the continental United States (62 cases) occurred in the Front Range of the Rocky Mountains, extending from Colorado Springs, Colorado, to Cheyenne, Wyoming. Fifty-two (84%) of these Kawasaki syndrome patients lived in the Denver ...

Nevoid basal cell carcinoma syndrome is a multisystem disease with a wide range of initial symptoms that can be seen at any age. The most characteristic features are vertebral or rib anomalies, intracranial falx calcification, multiple basal cell carcinomas, odontogenic keratocysts of the jaw, and palmar and/or plantar pits. Pediatricians ...

Open lung biopsy in a 38-year-old female with Pringle-Bourneville syndrome and recurrent pneumothorax revealed a micronodular pneumocyte II hyperplasia, a new entity probably associated with the tuberous sclerosis syndrome. The lesion caused an obstruction of the alveolar lymphatic vessels and alveolar ducts, resulting in an emphysema-like picture. This cystic dilation ...

The authors present a report on their experience with 10 patients with acute idiopathic blind spot enlargement. All had enlarged steep-margined blind spots without accompanying changes in optic disc appearance, significantly diminished visual acuity or color vision. Fluorescein angiography was obtained in eight patients. Five patients had retinal appearance that ...

Multiple cardiac rhabdomyomata were discovered on necropsy tissue review of a previously well child with megacystis-microcolon-intestinal hypoperistalsis syndrome, who died unexpectedly at home at 40 months of age. Multiple cardiac rhabdomyomata occur rarely and have not previously been reported with this syndrome. They are most frequently associated with tuberous sclerosis. ...

In a patient with progressive dysphagia, postprandial vomiting, and a history of Alport syndrome, barium and manometric studies had been interpreted as consistent with achalasia, but a subsequent computed tomographic (CT) scan of the thorax was suggestive of a lower esophageal intramural mass. Multiple leiomyomas of the esophagus were later ...

A dysmorphology data base can be useful for the clinician in the task of diagnosing multiple malformation syndromes in children. In this article the database POSSUM is described. Four patients with multiple anomalies referred for diagnostic syndrome evaluation are presented. They serve as examples on how POSSUM efficiently can be ...