Pterygium Syndrome is an extremely rare and complex congenital disorder consisting of severe contractures involving multiple flexural surfaces and associated craniofacial abnormalities, including mandibular hypoplasia and epicanthic folds. It is also often associated with other congenital abnormalities of the cardiovascular, respiratory and genitourinary systems. It may present in different forms ...

After giving a brief overview of the cognitive core deficit in multiple sclerosis (MS), pros and cons of considering the clinical characteristics as a form of 'subcortical dementia' are discussed. By comparing the neuropsychological descriptions of MS patients as given in the literature to other neurological diseases which are also ...

Müllerian metaplasia of the female genital tract is usually of limited extent and subtype. We describe the replacement of the lining of the entire genital tract and much of the overlying pelvic serosa by metaplastic müllerian epithelium, in a nulliparous 65-year-old woman with cervical agenesis. She did not have Peutz-Jeghers ...

An emerging clinical entity that reproduces clinical manifestations similar to those observed in Lyme disease (LD) has been recently under discussion in Brazil. Due to etiological and laboratory particularities it is named LD-like syndrome or LD imitator syndrome. The condition is considered to be a zoonosis transmitted by ticks of ...

Summary: Giant serpentine aneurysms (GSA) are a rare, distinct group of giant intracerebral aneurysms. Multiple endocrine neoplasia type 1 (MEN 1) syndrome is characterised by tumours of the parathyroid glands, pancreatic islets and the pituitary. We report a case of a GSA in a diabetic patient diagnosed with MEN 1 ...

Erxian Tang is a Chinese herbal formula developed for the treatment of menopausal syndrome in women. In the past 50 years, EXT has shown positive efficacy in the treatment of many chronic diseases in TCM, involving syndrome types of Shen yin-yang deficiency, yin-deficiency caused yang-flourishing, and disharmony of Chong-Ren meridian. ...

A 34-year-old woman in whom multiple sclerosis (MS) had been diagnosed 2 years earlier developed progressive bilateral visual loss associated with peripapillary exudative retinal detachment and other features of Vogt-Koyanagi-Harada (VKH) syndrome. She was treated with corticosteroid pulses and interferon beta-1A with visual acuity improvement and resolution of the retinal ...

Noonan's syndrome involves the association of multiple congenital abnormalities, with a variety of cardiac defects. We describe here the association of Noonan's syndrome with multiple pulmonary arteriovenous fistulas and bilateral duplicated renal collecting systems. To the best of our knowledge, this is the first reported case of an association of ...

We report a patient with relapsing-remitting multiple sclerosis (RRMS), who developed bilateral severe tongue weakness due to the anterior opercular syndrome. This was caused by a recent inflammatory demyelinating lesion in the right perisylvian juxtacortical region, superimposed on a pre-existing left perisylvian lesion, which had previously caused temporary isolated right ...

Cowden syndrome, also known as multiple hamartoma syndrome is a rare autosomal dominant disorder characterized by multiple hamartomatous tumors of ectodermal, mesodermal and endodermal origin. A 47-year-old woman had a skin-colored plaque on the left foot. She had total abdominal hysterectomy due to uterine leiomyoma at the age of 35, ...

Down syndrome (DS) is associated with abnormalities in multiple organ systems and a characteristic phenotype that includes numerous behavioral features. Language, however, is among the most impaired domains of functioning in DS and, perhaps, also the greatest barrier to independent meaningful inclusion in the community. In this article, we review ...

Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. ...

Numerous angiofibromas on the face are commonly associated with tuberous sclerosis or multiple endocrine neoplasia type 1. We present a healthy 66-year-old female with numerous facial angiofibromas, without evidence of tuberous sclerosis, multiple endocrine neoplasia type 1, or any of the less common syndromes associated with many angiofibromas on the ...

We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) (Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus. Level II ultrasound showed cardiomegaly and hepatomegaly. Histological examinations of the fetal vital organs manifested marked mucopolysaccharide deposition. We suggest that any therapeutic approach ...

Neurovascular compression has been postulated as a probable mechanism for a large number of cranial nerve syndromes, with trigeminal neuralgia (TGN) as the prime example. Microvascular decompression (MVD) is often cited as the procedure of choice for treatment of medically refractory TGN. Arguments against these assumptions are: MRA studies indicate ...

We aimed to evaluate the potential of the cerebrospinal fluid (CSF) axonal damage biomarker NfH(SMI35) in the laboratory-supported differential diagnosis of parkinsonian syndromes. Patients with idiopathic Parkinson's disease (PD; n = 22), multiple-system atrophy (MSA; n = 21), progressive supranuclear palsy (PSP; n = 21), corticobasal degeneration (CBD; n = ...

Electrical injury may act as a potential precipitating or risk factor for amyotrophic lateral sclerosis (ALS). A systematic review of the literature was undertaken to assess the relationship between electrical injury and the development of ALS. Information for the review was obtained using five medical databases, and from manual searching ...

Antisocial personality disorder (ASPD) and psychopathy are two syndromes with substantial construct validity. To clarify relations between these syndromes, the authors evaluated 3 possibilities: (a) that ASPD with psychopathy and ASPD without psychopathy reflect a common underlying pathophysiology; (b) that ASPD with psychopathy and ASPD without psychopathy identify 2 distinct ...

The most prominent contributions to multiple organ failure, multiple organ dysfunction syndrome, and systemic inflammatory response syndrome are described in this article. However, it is quite possible that there are others that have been missed. The problem of organ failure continues to perplex clinicians and scientists, and it contributes to ...

A previous symptom-based survey of veterans of the 1990-1991 Persian Gulf War suggested a neurological syndrome (blurred vision, loss of balance/dizziness, tremors/shaking, and speech difficulty). The authors conducted the present study to determine whether specific findings could indicate an organic basis for this possible syndrome. They completed an extensive clinical ...

Parry-Romberg syndrome (PRS) or progressive hemifacial atrophy is a rare entity characterized by unilateral atrophy of the skin, subcutaneous tissue and sometimes bone and cartilage. Although this syndrome has overlapping features of scleroderma 'en coup de sabre', it shows little or no sclerosis and may affect the entire distribution of ...

OBJECTIVE: Most pediatric studies on multiple organ dysfunction syndrome derive from developed countries. There is little information regarding the etiologies and outcomes of multiple organ dysfunction syndrome in critically ill children from developing countries. The objective of this study was to examine the differences in epidemiology of multiple organ dysfunction ...

Nodular basal cell carcinomas resistant to multiple forms of treatment in two patients with nevoid basal cell carcinoma syndrome (Gorlin's syndrome) were treated with systemic porfimer sodium-based photodynamic therapy. Interstitially placed optical diffuser fibers were used to deliver light. Good response to treatment was seen on clinical evaluation and on ...

Multiple cutaneous neuromas are rarely seen in dermatology practice. We report a case of multiple cutaneous neuromas, macular amyloidosis (MA), and medullary thyroid carcinoma (MTC) and discuss the interrelationship of the associated conditions. Multiple endocrine neoplasia 2 (MEN 2) is a hereditary syndrome that comprises MEN 2A, MEN 2B, and ...

Weakness of the neck extensors can lead to "dropped head syndrome", a condition of progressive cervical kyphosis in which a patient is unable to hold their head up against the force of gravity. This condition can be associated with structural abnormalities of the spine as found in ankylosing spondylitis and ...

Strongyloides hyperinfection syndrome is one of several clinical manifestations of strongyloidiasis and has a mortality rate exceeding 85%. The syndrome is characterized by a high organism burden owing to autoinfection and is most common in immunocom-promised hosts. The recovery of multiple pathogens is likely due to a piggyback phenomenon that ...

Mechanical ventilation support and diaphragm pacing has improved the prognosis of patients with idiopathic congenital central hypoventilation syndrome (CCHS; Ondine's curse). However, severe bradyarrhythmias may occur. This report is about a patient who was supplied with a bilateral diaphragm pacing system at early childhood. At the age of 17 years, ...

In neurology, paroxysmal syndromes are well-known, eg, as manifestations of multiple sclerosis. We report a patient with meningeal carcinomatosis, who presented with therapy-refractory nausea and vomiting. The clinical suspicion of a paroxysmal syndrome prompted a trial of carbamazepine, which resulted in complete cessation of the symptoms. In cancer patients with ...

Multiple supernumerary teeth are usually associated with syndromes. On the contrary, multiple supernumerary teeth without association with any syndromes are very rare. This article presents a report of two cases with multiple supernumerary teeth not associated with any syndrome and emphasizes the routine advice of orthopantomogram whenever a single supernumerary ...

Infections of the mother, the intrauterine environment, the fetus, and the neonate can cause cerebral palsy through a variety of mechanisms. Each of these processes is reviewed. The recently proposed theory of cytokine-induced white matter brain injury and the systemic inflammatory response syndrome with multiple organ dysfunction syndrome is critically ...

The authors assessed the extent of overlap between current diagnostic criteria of neuromyelitis optica (NMO) and multiple sclerosis (MS) by applying NMO criteria to a large cohort of 320 patients with clinically isolated syndromes (CIS). Twenty-three (7.2%) patients fulfilled NMO absolute criteria at some time and 1 (0.3%) also fulfilled ...

BACKGROUND: The spectrum of clinical findings associated with PTEN tumor suppressor gene germline mutations, referred to as PTEN hamartoma-tumor syndrome (PHTS), includes Cowden and Bannayan-Riley-Ruvalcaba syndromes. Although the skin is the ectodermal structure most often affected by these autosomal dominant genodermatoses, abnormalities of neural tissues are frequently observed. OBSERVATIONS: We ...

Neuromyelitis optica of Devic (NMO) is a syndrome which combines transverse myelitis and optic neuritis. For many years it was assumed that transverse myelitis and optic neuritis should be simultaneous, that optic neuritis should be bilateral, and that transverse myelitis must be complete. NMO was considered to be very rare. ...

The present study uses latent class methods and multiple regression to shed light on hypothesized cocaine dependence syndromes experienced by community residents, who initiated cocaine use within 24 months of survey assessment, and explores possible variation in risk. Identified within public use data files from the United States National Household ...

OBJECTIVE: To evaluate lenalidomide in the treatment of multiple myeloma and myelodysplastic syndrome (MDS). DATA SOURCES: Clinical literature was accessed through MEDLINE (1966-August 2005), Science Citation Index (1980-August 2005), and Proceedings of the American Society of Hematology (2000-2004). DATA SYNTHESIS: New analogs of thalidomide have been synthesized that are more ...

Few reports describe incidental prenatal diagnosis of sporadic Larsen syndrome by ultrasound, but none of these discuss coincidental oligohydramnios or an association with fetal growth restriction. A 28-year-old woman had prolonged rupture of membranes causing marked oligohydramnios at 32 weeks gestation in her first pregnancy. Labor was induced by vaginal ...

Glossopharyngeal neuralgia is a distinctive syndrome, named by Wilfred Harris. Investigation must exclude multiple sclerosis, and local compression, especially by tumours which require treatment. Dandy deserves credit for first indicating vascular compression of cranial nerve roots as a cause of cranial neuralgias, and Jannetta for establishing neurovascular decompression. Vascular compression ...

A 50-year-old woman was admitted due to a long-standing history of cutaneous lesions, which were gradually increasing in number and size, located on the trunk and extremities. Histological studies confirmed the initial clinical diagnosis of histiocytomas. Moreover, the patient had numerous smooth erythematous papules on her chin and around her ...

Disuse myopathy can be caused by many disorders. However, disuse myopathy with symmetrical weakness of the proximal muscles in the four limbs is rare. Here we report a 45-year-old man who presented with the appearance of myopathy similar to the clinical picture of limb-girdle syndrome with symmetrical weakness of proximal ...

A patient with atypical Goldenhar syndrome is reported. The characteristic features similar to the other reported cases are facial asymmetry, multiple skin tags, limbal dermoids and posteriorly angulated ear. The atypical intraoral feature is unilateral presence of multiple complex odontomes. The hypotrophy of left hemisphere with localized calcification in the ...

BACKGROUND: Speckled lentiginous nevus (SLN; synonym: nevus spilus) is a darkly spotted light-brown macule that mostly occurs as an isolated lesion of rather limited dimensions but sometimes may involve large areas of the body. So far, this skin disorder has been considered to represent one clinical entity. OBJECTIVE: Because SLN ...

BACKGROUND: Fundic Gland Polyps (FGPs) are small sessile (2-5 mm) usually multiple polyps arising in the gastric, acid-secreting mucosa, described both in a sporadic form, prevalently in middle aged females, and associated with familial adenomatosis coli (FAP)-Gardner's syndrome and their attenuated variants (syndromic form). AIMS: We performed an immunohistochemical study ...

Although pheochromocytoma occurs in 1% of patients with von Recklinghausen's disease, composite tumors in this syndrome are much rarer, with isolated case reports in the literature. Most gastrointestinal stromal tumors (GISTs) are solitary and sporadic. Multiple GISTs however, are associated with clinical syndromes particularly von Recklinghausen's disease. We believe this ...

The combination of optic neuritis and myelitis, the so-called Neuromyelitis optica is an uncommon pattern of demyelinating disorder. In 1870, Sir Thomas Clifford Allbutt first reported the association and Erb published a comparable report. Gowers and Dreschfeld described other instances in the 19th century. This paper attempts to review the ...

Traumatic chiasmal syndrome is a rare complication of closed head trauma. It often presents as bitemporal hemianopia and may be associated with other neurological signs. The authors report a case of a 47-year-old man who had sustained severe frontal head trauma from a motor vehicle accident that caused multiple cranial ...

Supernumerary teeth are common in the general population and occur more frequently in-patients with family history of such teeth. Multiple supernumerary teeth are associated with cleidocranial dyplasia and Gardner syndrome. However it is rare to find multiple supernumeraries in individuals with no other associated disease or syndrome. We describe the ...

We report a patient with the varicella zoster viral (VZV) infection of multiple cranial nerves mimicking Garcin syndrome, who initially presented with Ramsay Hunt syndrome (herpes zoster oticus). A 78-year-old man showed left facial palsy with zosteric eruptions in his left auricle and dysphagia, followed by left total ophthalmoplegia. His ...

As an off-shoot of a study examining the reliability and validity of an adapted version of the Pre-Linguistic Autism Diagnostic Observation Schedule (A-PL-ADOS), 13 individuals with Down syndrome with IQs ranging between 24 and 48 were administered the Autism Diagnostic Interview-Revised (ADI-R) and the A-PL-ADOS, which are well-validated interview and ...

Phaeochromocytomas in patients with multiple endocrine neoplasia type 2 (MEN 2) produce adrenaline, whereas those with von Hippel-Lindau (VHL) syndrome do not. This study assessed whether these distinctions relate to differences in expression of the transporters responsible for uptake and storage of catecholamines - the noradrenaline transporter and the vesicular ...

One of the best examples of a natural behavioral syndrome is the pollen-hoarding syndrome in honeybees that ties together multiple behavioral phenotypes, ranging from foraging behavior to behavioral ontogeny and learning performance. A central behavioral factor is the bees' responsiveness to sucrose, measured as their proboscis extension reflex. This study ...