What is to be understood by the term Pick's disease? Is this a clinical syndrome(s) of frontotemporal lobar atrophy, or a more specific clinicopathological concept of frontotemporal lobar atrophy with Pick bodies and/or Pick cells on neuropathology? The author discusses these concepts in an historical context as an introduction to ...

The lack of widely accepted, standardized, clinical and epidemiologic criteria for Multiple Chemical Sensitivity syndrome has led to confusion about the identification of the condition and has slowed pertinent research. In this article, the authors evaluated the psychometric properties of 2 sets of clinical/epidemiologic criteria for Multiple Chemical Sensitivity syndrome. ...

Susac's syndrome is a rare disorder characterized by the triad of microangiopathy of the brain and retina with hearing loss. More than 50 affected individuals have been reported worldwide, all Caucasians. We herein identify the first Japanese patient with Susac's syndrome. A 36-year-old man developed recurrent subacute encephalopathy, bi- a ...

The anti-PM/Scl autoantibodies are known to characterize a subset of autoimmune patients with myositis, scleroderma (Scl), and the PM/Scl overlap syndrome. The major autoantigens that are recognized by anti-PM/Scl autoantibodies are designated PM/Scl-100 and PM/Scl-75. These autoantigens have been reported to associate into a large complex consisting of 11 to ...

A patient with long-standing, occult pituitary insufficiency, who developed painful muscle stiffness and superimposed spasms, closely resembling stiff-person syndrome, was described. Complete resolution of neuromuscular symptoms with hormone replacement in this case, as well as in a previously reported one, led to the suggestion that a syndrome like stiff-person could ...

BACKGROUND: Myomatous erythrocytosis syndrome (erythrocytosis associated with a uterine myoma) has multiple proposed etiologies, one of which is altered erythropoietin production. CASE: A 28-year-old woman, gravida 0, para 0, presented with a solitary, degenerated uterine myoma that was 34-36 weeks' gestational size and erythrocytosis. After GnRH agonist treatment and myomectomy, ...

An 18-year-old girl with multiple endocrine neoplasia type 2 (Sipple's syndrome) had a large intraventricular mass that proved to be a thrombus. She had no apparent precipitating factor for intracavitary thrombus formation. This is the first reported case of multiple endocrine neoplasia associated with ventricular thrombus. A hypercoagulable state resulting ...

Susac syndrome is a readily recognized but often misdiagnosed disorder almost exclusively affecting women in the 20- to 40-year age range. Characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss, patients with Susac syndrome are often misdiagnosed with multiple sclerosis (MS). Unlike MS, however, ...

Brooke-Spiegler syndrome is an autosomal dominant inherited disease characterized by the development of multiple trichoepitheliomas and cylindromas. We report two patients with Brooke-Spiegler syndrome whose scalp cylindromas were treated with a high-energy continous wave CO2 laser after debulking with bipolar scissors in one of the patients. The special feature in ...

The CREST syndrome is a variant form of progressive systemic sclerosis. Apart from the occurrence of keratoconjunctivitis sicca, other types of ocular involvement associated with this variant are quite rare. We present the case of a 73-year-old woman with the CREST variant of progressive systemic sclerosis who developed unilateral granulomatous ...

Multiple endocrine neoplasms, including an insulinoma, bilateral adrenocortical adenocarcinomas and an aortic paraganglioma, were diagnosed after euthanasia in a 12-year-old spayed female dog of mixed breed with a history of progressive anorexia, vomiting, diarrhoea, weight loss, polyuria and polydipsia, regenerative anaemia and hypoglycaemia. The clinical, gross pathological, microscopical, immunohistochemical and ...

King-Kopetzky syndrome (Obscure Auditory Dysfunction, OAD) has been recognized as a clinically distinct condition in audiological and ENT clinics. It is characterized by normal hearing thresholds on pure tone audiometry (PTA) but complaints of difficulties in understanding speech in the presence of background noise. In a study on 110 consecutive ...

OBJECTIVE: The aim of this paper is to document regular nocturnal intensification of delusional nihilistic and persecutory ideas (Cotard delusion) linked with extreme depersonalisation and hypervivid dreaming. CLINICAL PICTURE: A 17-year-old man presented with Cotard and Capgras delusions after sustaining multiple cognitive impairments secondary to traumatic brain injury. Treatment and ...

Lemierre's syndrome is thrombophlebitis of the internal jugular vein (IJV), complicating an oropharingeal infection. The causative organism is Fusobacterium, an anaerobic bacillus, and the syndrome typically occurs in previously healthy teenagers and young adults. Thromboembolic metastases are a common sequela, and the lungs are most frequently affected. We present a ...

Papular acrodermatitis of childhood (Gianotti-Crosti syndrome) is an uncommon, self-limited disease characterized by an erythematous papular eruption symmetrically distributed on the face and limbs and mild lymphadenopathy, thought to be of viral origin. The histopathologic findings are nonspecific and include focal parakeratosis, mild spongiosis, superficial perivascular infiltrate, papillary dermal edema, ...

Hemolytic uremic syndrome (HUS) is associated with multiple nonrenal manifestations. A unique case is described of a 3-year-old boy who presented with a classic diarrheal prodrome followed by massive necrosis of the biliary tree and common bile duct, pancreas, and the left lobe of his liver. This complication of HUS ...

The Holt-Oram syndrome features a spectrum of upper limb abnormalities, including an abnormal shape of the scaphoid. Our report concerns a 19-year-old man with Holt-Oram syndrome and flattening and sclerosis of the proximal pole of a bipartite scaphoid. The initial ossification centre in the scaphoid was located distally at 8 ...

A 32-year-old man presented with multiple cranial neuropathies and his serum was positive for botulism type B. However, serial electrodiagnostic studies were consistent with a primarily neuropathic process, such as Fisher syndrome, rather than a neuromuscular junction disorder. Electrodiagnostic study findings in patients with presumed neuromuscular junction disorders may mimic ...

Tuberous sclerosis is an autosomal dominant disorder often associated with a chromosome 9 abnormality, although up to 60% of cases occur spontaneously. The incidence of the disorder is between 1/100,000 and 1/10,000, and it leads to multiple organ and skeletal abnormalities. The classical triad of epilepsy, mental retardation and adenoma ...

A 71-year-old woman reported a slow progression of multiple bluish dark asymptomatic macules and papules on the pretibial region of both lower legs for over 30 years. At birth a left-sided hypoplasia of the leg including the buttock accompanied by a connatal vascular nevus had been diagnosed. The ipsilateral deep ...

The multiple endocrine neoplasia syndromes form a distinct group of genetic tumor syndromes. They include multiple endocrine neoplasia types 1 and 2, von Hippel Lindau syndrome, neurofibromatosis, and Carney complex. Research over the past decade has identified a molecular basis for each of these syndromes. This knowledge has revolutionized not ...

Fundic gland polyps (FGPs) are tiny multiple sessile polyps of the acid-secreting gastric mucosa. They have been described both in a sporadic form, mainly in middle-aged females, and in a syndromic form, associated with familial adenomatous polyposis (FAP)-Gardner's syndrome and attenuated variants (AFAP). They share the same histology, characterised by ...

Multiple organ dysfunction syndrome (MODS) is a major cause of morbidity and mortality in surgical intensive care units (SICUs). Multiple organ dysfunction syndrome remains the most important factor associated with mortality in the SICU. Illness severity scores such as the Acute Physiology and Chronic Health Evaluation-III (APACHE III) and the ...

Gram-negative sepsis syndrome is an increasingly common complication in medical and surgical patients. The molecular and cellular mechanisms underlying this dreaded complication are yielding to investigation. These studies have led to a multiplicity of targets for novel therapies. Despite highly promising results in many animal studies, clinical studies have been ...

Nocardia farcinica is an increasingly common cause of human infection in Europe. We observed an isolated nodular subcutaneous abscess due to N. farcinica in the forearm of a young patient with overlap syndrome between systemic sclerosis and polymyositis. Despite in vitro resistance to trimethoprim-sulfamethoxazole, this oral combination completely resolved the ...

OBJECTIVE: Although both orthostatic hypotension and urinary incontinence have been reported in a number of parkinsonian syndromes, such as Parkinson's disease (PD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB), corticobasal degeneration (CBD), and progressive supranuclear palsy (PSP), differences in the evolution of these features have not been studied ...

Turcot's syndrome is a combination of multiple adenomatous gastrointestinal polyps and neuroepithelial tumors of the central nervous system (CNS). A 16-year-old man presented with Turcot's syndrome consisting of nonfamilial colorectal polyposis and multiple fibrillary astrocytomas accompanied by ruptured intracranial arteriovenous malformation (AVM) manifesting as generalized epileptic activity. Multiple CNS tumors ...

Syndrome of multiple cranial palsies is a common clinical problem routinely encountered in neurological practice. Anatomical patterns of cranial nerves involvement help in localizing the lesion. Various infections, malignant neoplasms and autoimmune vasculitis are common disorders leading to various syndromes of multiple cranial nerve palsies. A large number of diffuse ...

PURPOSE: To describe a morphologic variant of the multiple evanescent white-dot syndrome that can mimic other conditions. METHODS: We examined three patients with severe cases of unilateral multiple evanescent white-dot syndrome characterized by an atypical progressive circumpapillary discoloration of the fundus. RESULTS: The confluent circumpapillary lesion progressed toward or beyond ...

The one-and-a-half syndrome is characterised by a lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other. It is due to a unilateral lesion of the dorsal pontine tegmentum, involving the ipsilateral paramedian pontine reticular formation, internuclear fibres of the ipsilateral medical longitudinal fasciculus and, usually, the abducens ...

A 36-year-old woman presented with multiple yellowish cutaneous cysts of 5 years duration, over the scalp, trunk and upper limbs. She had pachyonychia, keratoderma of hands and feet, eyebrows which stood straight out and a single cafe-au-lait macule.

This report is the first to describe constitutional aplastic anemia in a patient with Rothmund-Thomson syndrome (also called poikiloderma congenitale), a disease characterized by multiple cutaneous and extracutaneous findings. The findings suggest that although Rothmund-Thomson syndrome is a rare disease, vigilance for the development of associated hematologic abnormalities is warranted.

Multiple fibrofolliculomas, trichodiscomas, and acrochordons compose the triad of cutaneous lesions characterizing the Birt-Hogg-Dubé syndrome, inherited in an autosomal dominant fashion. We report a case of a family who had the triad of tumors of the Birt-Hogg-Dubé syndrome. Two members were observed clinically and histologically. Biopsies of the facial papules ...

We reported a case of a 45-year-old woman with encapsulated necrosis associated with Behçet's syndrome. The lesions were characterized by multiple, small subcutaneous nodules on the extremities. Histologically, a nodule consisted of degenerative adipocytes encapsulated by fibrous tissue. A membranocystic lesion was also observed in the cavity of the nodule. ...

The objective of this study is to discuss the myomatous erythrocytosis syndrome in a patient with a giant subserous uterine myoma. She presented with plethora and an abdominal mass. After venesection of 4 units of blood, the preoperative haematocrit value of 53.3% and haemoglobin value of 17.5 g/dL had decreased ...

Carney complex is characterized by spotty pigmentation (blue naevi and lentigines), myxomas (cardiac, cutaneous, mammary), endocrine over-activity (Cushing's syndrome, acromegaly), testicular tumours, and schwannomas. We report a male with multiple blue naevi, lentigines, testicular large cell calcifying Sertoli-cell tumour and four cardiac myxomas. The myxomas caused two cerebrovascular accidents and ...

OBJECTIVE: To describe a patient from Southeast Asia with the optic-spinal phenotype of multiple sclerosis who developed syringomyelia and resultant complex regional pain syndrome (formerly named reflex sympathetic dystrophy). DESIGN: Case report. SETTING: Department of neurology at a tertiary care hospital in the Republic of Singapore. PATIENT: A 53-year-old Chinese ...

In the last two decades our knowledge of the natural history, genetics and management of the different forms of neurofibromatosis has changed. Of the numerical classifications of neurofibromatosis proposed in the past, only neurofibromatosis type 1 (Nf1) and neurofibromatosis type 2 (Nf2) have been shown to be distinct at clinical ...

BACKGROUND: Multiple chondromatous hamartomas of the lung, which are very rare, are a feature of Carney syndrome. The relation between the two entities is not clear. METHODS: A patient with multiple chondromatous hamartomas of the lung is described in this article. The literature was reviewed with special reference to the ...

PURPOSE: To report two patients in their seventh decade who exhibited findings consistent with multiple evanescent white dot syndrome. METHODS: Case reports of two patients referred for evaluation of decreased vision, visual field loss, and retinal white spots. RESULTS: A 60-year-old man and a 67-year-old woman had photopsia, visual field ...

Achalasia is a rare but important condition affecting the myenteric neurons of the esophagus. A number of studies have provided evidence for the preservation of cholinergic innervation to the esophagus in achalasia. This forms the rationale for the treatment of achalasia with botulinum toxin. Identification of nitric oxide as the ...

A 50 year old woman presented with a subacute onset of vertigo and diplopia followed by an encephalopathy with confusion, spasticity, ataxia, myoclonus, and multiple branch retinal arteriolar occlusions and unilateral sensorineural deafness. Brain biopsy confirmed multiple microinfarcts with no vasculitis. After the procedure she had a right iliofemoral deep ...

The CotSA protein, encoded by cotSA (ytxN) of Bacillus subtilis, was detected from the cells at 5 h after the onset of sporulation (T5) and in the spore coat of wild-type cells, but not in cotE, cotS, gerE, or cotSA mutant spores. CotSA was also detected in the sporangium at ...

The last two decades have seen clinical and molecular delineation of the different forms of neurofibromatosis. Differentiation of these forms is not just an academic exercise: their natural history, management and genetic counselling are quite different. Of the numerical classifications of neurofibromatosis proposed in the past, only neurofibromatosis type 1 ...

Patients with Ollier's disease (multiple skeletal enchondromas) and Maffucci's syndrome (multiple enchondromas associated with subcutaneous hemangiomas) may develop skull base chondrosarcomas or low-grade astrocytomas as a delayed consequence of these disorders. We report three patients with Ollier's disease and Maffucci's syndrome who had diplopia as the initial manifestation of intracranial ...

The stylohyoid process is part of the stylohyoid chain--the styloid process, the stylohyoid ligament, and the lesser cornu of the hyoid bone. The stylohyoid chain is derived from the second branchial arch. Mineralisation of the stylohyoid ligament and ossification at the tip may increase the length of the styloid process. ...

Ankylosing Spondylitis can be associated with extra-articular involvement. Besides internal and ocular complications, neurological manifestations such as single root lesions, compression of the myelum or the cauda equina syndrome have also been described. We present a patient with ankylosing spondylitis who developed a monophasic myelopathy resembling multiple sclerosis. Literature data ...

Limited cutaneous systemic sclerosis (lSSc) or CREST syndrome is sometimes complicated by primary biliary cirrhosis (PBC). To characterize the clinical and immunological features of patients with SSc overlapping PBC (SSc-PBC), the clinical and laboratory data of 11 SSc-PBC were studied. Since all of the SSc-PBC were lSSc, the features of ...

Forty-three pantograms of the subjects with Down's syndrome were examined for the diagnosis of taurodontic teeth, grade of taurodontism, sex distribution and individual tooth involvement. Taurodontic teeth were found in 55.8% of the subjects, 32.6% females and 23.2% males. Second molars were most frequently affected (53.2%), followed by first molars ...

Proteus syndrome is a rare and highly variable hamartomatous syndrome that can affect multiple organ systems. It is characterized by hyperplastic lesions of connective tissue, vascular malformations, linear verrucous epidermal nevi, and hyperostoses. The cause of the disorder is unknown, but the current working hypothesis is that it is caused ...