The Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism with a haemorrhagic diathesis and the accumulation of ceroid-like material in different tissues. HPS is not an uncommon type of albinism as it was diagnosed in 13.5% (8/59) of our autosomal recessive albinos. These eight patients were evaluated ophthalmologically and haematologically. Apart from ...

We describe a patient treated with trazodone, amitriptyline and lithium carbonate who developed anxiety, restlessness, tremor, myoclonus, hyperreflexia, diaphoresis, rigidity and hyperthermia. The constellation of findings was diagnostic of serotonin syndrome. Although doses of trazodone and amitriptyline were relatively low, serotonin syndrome developed in this patient. It is suggested that ...

BACKGROUND: Kindler syndrome is a genodermatosis that combines clinical features of hereditary epidermolysis bullosa and poikiloderma congenitale. The ultrastructural level of blister formation has not been well characterized. OBSERVATIONS: Two brothers with Kindler syndrome had a history of primarily acral blistering since infancy as well as photosensitivity. Blister formation was ...

We report the unrecognized association of Langerhans cell histiocytosis (LCH) with partial DiGeorge syndrome. A 7-week-old infant with endocrine and immunologic characteristics of DiGeorge syndrome displayed multisystem involvement of Letterer-Siwe disease at birth. Despite vigorous medical support and chemotherapy, she died at 9 months of age with multisystem failure. This ...

The neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) can induce a parkinsonian syndrome in humans and nonhuman primates, which is susceptible to treatment and prevention by drugs such as L-DOPA and L-deprenyl. Recently, we have reported that MPTP can also cause a parkinsonian syndrome in the common goldfish, which appears to faithfully mirror the ...

With the tracer [123I]iodobenzamide ([123I]-IBZM), it is possible to image dopamine receptor occupancy with single-photon emission-computed tomography (SPECT). We report follow-up examinations with IBZM-SPECT in neuroleptic malignant syndrome (NMS) to display D2-receptor availability in the acute phase and during the course of remission. A 27-year-old man was admitted with severe ...

Selective serotonin reuptake inhibitors (SSRIs) are replacing tricyclic antidepressants (TCAs) with increasing frequency in the United States. Although SSRI poisoning tends to be less serious that TCA poisoning, the incidence of adverse side effects and drug interactions may be greater. The serotonin syndrome is a potentially severe adverse drug interaction ...

Neuroleptic malignant syndrome, the most serious and potentially fatal side effect of neuroleptics, is characterized by altered consciousness, extrapyramidal symptoms, hyperthermia, elevated plasma creatine phosphoidnase and leukocytosis. In the child and adolescent population, the syndrome may be underrecognized or underreported. We describe a 15-year-old girl who developed neuroleptic malignant syndrome ...

An 85-year-old Chinese woman was found to have mucocutaneous pigmentation involving the lips, buccal mucosa, hard palate and the buttocks when she presented with primary malignant melanoma of the rectum. Multiple brown-black pigmentation was also noted in the anal canal and the adjacent mucosa surrounding the tumour. This is the ...

The increased incidence of malignancies, especially acute leukemia, in Down syndrome has been clearly established. The association of Hodgkin's disease with Down syndrome has not been extensively documented, and only a few cases have been reported. We present here a case report of Hodgkin's disease in an 11-year-old female child ...

Acetylsalicylic acid (ASA) inhibits the in vitro formation of many cyclooxygenases, some of which in mammals regulate pulmonary vasoconstriction. Pulmonary vasoconstriction occurs in some species subsequent to hypoxaemia, through the mediation of cyclooxygenases. If this effect also is manifested in broilers, ASA might have a therapeutic potential in ameliorating the ...

Neuroleptic malignant syndrome (NMS) is a severe side-effect of neuroleptic treatment. It is usually related to hypodopaminergic activity. A young schizophrenic patient who developed a typical episode of NMS during abrupt withdrawal of long-acting neuroleptic combined with anticholinergic treatment is described. NMS appeared following combined neuroleptic/ anticholinergic withdrawal and responded ...

Tardive dyskinesia (TD) is a frequently occurring side effect of treatment with neuroleptic antipsychotic drugs. TD is a persistent and often irreversible syndrome characterized by abnormal movements, including lingual and orofacial dyskinesia, grimacing, tics, choreic movements of the limbs and trunk, and athetosis and dystonia. In some patients the muscles ...

The majority of patients with advanced malignant disease experience pain, so pain is commonly present in patients with paraneoplastic syndromes. It is rare, however, that the pain itself is a paraneoplastic manifestation of cancer. Usually, the pain in this context is associated with a paraneoplastic syndrome but is not a ...

Serotonin syndrome, a condition with numerous clinical neurological manifestations, is the result of central serotonergic hyperstimulation. Features of the syndrome include mental status and behavioral changes (agitation, excitement, hypomania, obtundation), motor system involvement (myoclonus, hemiballismus, tremor, hyperreflexia, motor weakness, dysarthria, ataxia) and autonomic symptoms (fever, chills, diarrhea). Serotonin syndrome has ...

This study examined the nature and prevalence of abnormal movements in adults with Down's syndrome and also the clinical correlates of orofacial dyskinesia and the relationship between dyskinesia and the level of functional and intellectual disability. Movement disorder, language age, and disability were assessed in an epidemiologically based sample of ...

Castleman syndrome (giant lymph node hyperplasia) is a rare, heterogeneous lymphoproliferative disorder of unknown etiology and pathogenesis. Most cases occur as mediastinal masses, although extrathoracic involvement including nodal and extranodal locations have been reported. The localized variants (solitary lesions) respond well to surgical excision. We report a 10-year-old boy who ...

Administration of medications which affect brain dopamine and serotonin levels are occasionally associated with neurotoxic behavioral and autonomic syndromes, variously described as the neuroleptic malignant (NMS) and the toxic serotonin (TSS) syndromes. Based on concepts of the presumed brain mechanisms of action of the drugs, different corrective interventions have been ...

Fever is generally considered to be an essential feature of neuroleptic malignant syndrome (NMS). The authors present the case of a 12-year-old boy who had many features of NMS but did not have fever. This case emphasizes the importance of assessing the total clinical situation. It also supports the concept ...

OBJECTIVE: To describe a case of neuroleptic malignant syndrome associated with risperidone. CLINICAL PICTURE: An elderly patient with bipolar affective disorder presented with neuroleptic malignant syndrome and relapse of hypomania after commencing risperidone. TREATMENT: Risperidone was ceased and the patient monitored closely. OUTCOME: The symptoms of neuroleptic malignant syndrome were ...

Malignant Post-Vietnam Stress Syndrome describes a severe form of combat-related posttraumatic stress disorder. We update the concept of Malignant Post-Vietnam Stress Syndrome, considering the effects of repeated severe traumatization, exposure to atrocities, and a variety of comorbid conditions. An illustrative case report demonstrates an interdisciplinary treatment approach, combining case management, ...

The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors describe an association with malignancy. We report three cases of Rothmund-Thomson syndrome associated ...

Neuroleptic malignant syndrome is an idiosyncratic reaction associated with the use of neuroleptic drugs. We report a case of this rare syndrome in a head injury patient associated with some unusual features: rhabdomyolysis with a high level of creatine kinase, the development of acute renal failure, the early use of ...

Bullous dermatoses such as erythema exsudativum multiform major (EEMM) and bullous pemphigoid can lead to severe ocular involvement. In rare cases, both diseases develop as paraneoplastic syndromes. The immunopathologic mechanisms are discussed. A 69-year-old woman with non-Hodgkin's lymphoma (NHL) of grade IIIb developed EEMM while under systemic treatment with Fluconazole, ...

2-chlorodeoxyadenosine (2-CdA) has been demonstrated to be a neurotoxic agent when used at significantly greater doses than currently recommended for clinical use. In this report we describe a case of a 37-years-old man lymphoplasmacytoid malignant lymphoma and pre-existing paraneoplastic neurological syndrome who died of an apparent rapidly progressive sensorimotor peripheral ...

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is generally considered to be nonfamilial. We report a brother and sister with clinical and pathologic findings characteristic of PSP. Both developed parkinsonism in the eighth decade of life and within 5 years exhibited severe postural instability, bradykinesia, rigidity, dystonia, dysarthria, ...

3,4-Methylenedioxymethamphetamine (MDMA), also known as "ecstasy" is a popular recreational drug with potential for abuse. Although its neurotoxic effects have been established in animal studies, the acute and long-term effects of this serotonergic agent in humans are still unknown. We describe a 19-year-old woman with overlapping symptoms of neuroleptic malignant ...

BACKGROUND: Beckwith-Wiedemann syndrome is a rare serious condition with a high rate of malignant tumors. A relationship between Beckwith-Wiedemann syndrome and insulin-like growth factor (IGF) II gene located at the level of the 11p15 chromosomic region has been demonstrated. CASE: An acromegalic woman (elevated IGF I serum levels) undergoing pregnancy ...

A patient with radiographically confirmed Dandy-Walker syndrome who presented with opisthotonus, a rarely reported clinical manifestation, is reported. From four separate pharmacologic trials (baclofen, diazepam, levodopa/carbidopa, and trihexyphenidyl), combination baclofen and diazepam therapy was determined to be most efficacious. Opisthotonus and extensor posturing remain only rudimentarily understood. We review the ...

An infant with haemorrhagic shock encephalopathy syndrome (HSES) who in addition presented with hyperpyrexia and myoglobinuria is reported. As rhabdomyolysis is a feature of heat stroke and malignant hyperthermia, the association of HSES with myoglobinuria supports the hypothesis that HSES may be a form of hypermetabolic state triggered by hyperthermia.

Paraneoplastic syndrome refers to a group of disorders caused by or associated with cancers that are not direct effects of the primary tumor mass or a metastasis to the involved organs. Neurologically, the phrase describes a group of disorders that are diagnosed with increasing frequency in cancer patients. In this ...

The first case of a primary malignant mesenchymoma arising from the prostate in Gardner's syndrome is reported. The neoplasm occurred in a 40-year-old man with a chief complaint of urinary retention. Biopsy findings were primary malignant mesenchymoma. Total cystectomy and lymphadenectomy were performed, but the patient died due to multiple ...

A clinical and biological pattern similar to that of neuroleptic malignant syndrome is reported in a depressed patient treated with trimipramine, without any concomitant use of neuroleptics. The antidopaminergic properties of this drug, one of the tricyclic antidepressants, may account for this uncommon side effect.

1. Neuroleptic withdrawal can cause autonomic and behavioral symptoms (nausea, vomiting, diarrhea, diaphoresis, myalgia, anxiety, restlessness) and movement disorders (withdrawal emergent parkinsonism, withdrawal dyskinesia, covert dyskinesia). 2. Neuroleptic malignant syndrome (NMS) is a rare but extremely severe adverse reaction to neuroleptic drugs characterized by extrapyramidal and autonomic symptoms, altered level ...

We report a case study of an 18-year-old female who presented with symptoms associated with several discrete diagnostic syndromes: obsessive-compulsive disorder, trichotillomania, major depression, and anorexia nervosa. Improvement in each occurred after treatment with the serotonin selective reuptake inhibitor, fluoxetine, suggesting that such syndromes share a common serotonin neurotransmitter disturbance. ...

The Muir-Torre syndrome is an autosomal dominant genodermatosis characterized by the occurrence of one or more sebaceous gland tumors (either adenoma, epithelioma, or carcinoma) and a single malignant internal neoplasm. To date, 133 cases of Muir-Torre syndrome have been described. Colorectal (49%) and genitourinary (21%) carcinomas are the most common ...

This report describes a case of encephalopathy developed in the course of amitriptyline therapy, during a remission of unipolar depression. This patient could have been diagnosed as having either neuroleptic malignant syndrome (NMS) or serotonin syndrome (SS). The major determinant of the symptoms may have been dopamine/serotonin imbalance in the ...

Perazin is a piperazine derivative of phenothiazine with higher affinity for the D2 than the D1 receptor. We observed a 43-year-old woman who developed blepharospasm and oral hyperkinesia as a tardive dystonic syndrome after short-term treatment with perazin. She had never taken any other neuroleptic medication and all known forms ...

Ballantyne syndrome has been found in association with a number of antenatal complications. This first reported case of Ballantyne syndrome with a large placental chorioangioma was successfully alleviated by delivery of the fetus, placenta, and tumor. A common denominator among the Ballantyne syndrome and its associated pathologic features has not ...

We describe an unusual case of colon cancer presenting with two dermatologic manifestations of internal malignancies: Trousseau's syndrome and Sister Mary Joseph's nodule. Trousseau's syndrome is associated with 1 to 11 percent of internal malignancies, while 5 percent of colorectal carcinomas present with cutaneous metastases. Our case highlights the clinical ...

Hypercalcaemia is a serious complication of sepsis and prolonged immobility. Hormonal, humoral and mechanical factors play a complex role in its development. Because hypercalcaemia is associated with a significant increase in morbidity and mortality, early treatment is recommended. Pamidronate is an effective pharmacological agent and should be considered as primary ...

We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: "coarse face" with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this ...

In June 1992, a 51-year-old Caucasian man with a mild learning disability was prescribed chlorpromazine and thioridazine for sleeplessness and agitation. He developed neuroleptic malignant syndrome (NMS) which was treated successfully with intravenous diazepam. Without further exposure to neuroleptics, the patient became acutely unwell with signs of catatonic syndrome in ...

Serotonin syndrome is a potentially life-threatening complication of psychopharmacologic drug therapy. The syndrome is produced most often by the concurrent use of two or more drugs that increase brainstem serotonin activity and is often unrecognized because of the varied and nonspecific nature of its symptomatology. Serotonin syndrome is characterized by ...

A 6-year-old boy with striatonigral degeneration had an episode of neuroleptic malignant syndrome after an upper respiratory infection. Dantrolene treatment was successful. Some reports have demonstrated that anesthetic and antipsychotic agents lead to neuroleptic malignant syndrome in disorders of the basal ganglia. However, neuroleptic malignant syndrome attributable to a respiratory ...

A female patient, aged 61 years, who developed a severe immobilizing stiff-person syndrome in conjunction with insulin-dependent diabetes mellitus, is described. In addition to the typical clinical symptoms, diagnosis was proven by the presence of autoantibodies against glutamic acid decarboxylase in serum and cerebrospinal fluid. Symptomatic treatment with continuous intrathecal ...

After nearly any form of cardiac surgery, an acute febrile illness characterized by leukocytosis, pericarditis with pericardial effusion, and pleural effusion may occur. In some instances, this postpericardiotomy syndrome may suggest the presence of mediastinal infection. Treatment of postpericardiotomy syndrome is conservative, and symptoms typically resolve with nonsteroidal antiinflammatory medication. ...

Andreasen's scales for the assessment of positive (SAPS) and negative (SANS) symptoms and the Brief Psychiatric Rating Scale (BPRS) were administered to a group of 70 neuroleptic-free psychotic inpatients. Individual ratings from the SAPS and SANS, together with the 18-item BPRS, were examined to identify clusters of symptoms. The findings, ...

A 16-year-old female patient presented to our emergency department with anticholinergic psychosis after an ingestion of cyproheptadine. The central anticholinergic syndrome occurs frequently but often goes unrecognized because many patients do not fit into a well defined clinical pattern. The diagnosis depends on the suspicion and recognition of the psychiatric ...

The serotonin syndrome has increasingly been recognised in patients who have received combined serotonergic drugs. This syndrome is characterised by a constellation of symptoms (confusion, fever, shivering, diaphoresis, ataxia, hyperelflexia, myoclonus or diarrhoea) in the setting of the recent addition of a serotonergic agent. The most common drug combinations causing ...