Meckel syndrome is a lethal autosomal recessive disorder characterized by the triad of cystic renal dysplasia, occipital encephalocele, or other anomaly of the central nervous system and post-axial polydactyly. Malformation of the ductal plate is an integral component of Meckel syndrome. Ductal plate malformations include congenital hepatic fibrosis, biliary hamartoma, ...

Cowden syndrome (CS) is a rare, autosomal dominant inherited disorder associated with multiple benign and malignant neoplasms, including breast cancer. Prophylactic resection of susceptible organs remains controversial. We briefly describe the syndrome and review management of the risk of CS-associated malignancies. Three cases of bilateral risk-reducing mastectomy and immediate breast ...

Catatonia has been rediscovered over the last 2 decades as a unique syndrome that consists of specific motor signs with a characteristic and uniform response to benzodiazepines and electroconvulsive therapy. Further inquiry into its developmental, environmental, psychological, and biological underpinnings is warranted. In this review, medical catatonia models of motor ...

Rhabdomyosarcoma (RMS), the most common pediatric soft tissue sarcoma, accounts for 3% of childhood malignancies. Multiple Endocrine Neoplasia (MEN) type 2A is an autosomal dominant syndrome associated with near universal development of medullary thyroid carcinoma. We describe a previously unreported association of MEN-2A with metastatic alveolar RMS and review the ...

Many inherited skin conditions are associated with underlying malignancies. The astute clinician will be able to recognize many of these cutaneous findings. The identification of these genetic syndromes with cutaneous findings, or genodermatoses, may allow early recognition of internal malignancies and the extension of these patients' life expectancy. Several of ...

Patients with Wiedemann-Beckwith syndrome (WBS, MIM 130650), a congenital overgrowth syndrome, have a known increased tumor risk especially for embryonic tumors. WBS belongs to the "imprinting" syndromes caused by overexpression of IGF2 and/or loss of CDKN1C on chromosome 11p15.5. A 13-year-old boy with WBS developed a spitzoid malignant melanoma (Clark ...

Recent medical advances have improved the understanding, diagnosis, and treatment of paraneoplastic syndromes. These disorders arise from tumor secretion of hormones, peptides, or cytokines or from immune cross-reactivity between malignant and normal tissues. Paraneoplastic syndromes may affect diverse organ systems, most notably the endocrine, neurologic, dermatologic, rheumatologic, and hematologic systems. ...

Remitting seronegative symmetrical synovitis with pitting oedema (RS3PE) of the dorsum of the hands and/or feet can be observed in different inflammatory rheumatic diseases as well as in haematological and solid malignancies. McCarty et al, described this syndrome for the first time more than twenty years ago. Underlying malignancy should ...

We report a case of severe neuroleptic malignant syndrome developing in a 28-year-old female patient following deliberate self-poisoning with atypical antipsychotic drugs and serotonin reuptake inhibitors. Because of an increasing loss of consciousness she was rapidly transferred to an Intensive Care Unit. Following this, she became progressively febrile associated with ...

Hyperthermia is frequently seen in the intensive care setting and is associated with significant morbidity and mortality. It is often initially misdiagnosed as fever associated with infection. Atypical presentations of classic syndromes are common. Clinical suspicion is the key to diagnosis. Adverse drug reactions are a frequent culprit. Syndromes include ...

Catatonia is a distinct neuropsychiatric syndrome that is becoming more recognized clinically and in ongoing research. It occurs with psychiatric, metabolic, or neurologic conditions. It may occur in many forms, including neuroleptic malignant syndrome. Treatment with benzodiazepines or electroconvulsive therapy leads to a dramatic and rapid response, although systematic, randomized ...

PURPOSE: A case study is presented to discuss the importance of accurate assessment of a patient in the emergency department (ED) who develops neuroleptic malignant syndrome (NMS). CONCLUSIONS: There has been a significant increase in the number of patients with psychiatric emergencies seeking treatment in the ED. The most frequently ...

Numb chin syndrome is a sensory neuropathy in the distribution of the mental or inferior alveolar nerve. It may occur in benign disease, both systemic and dental in origin. It is also an under appreciated sign of malignancy. We present six cases from our experience highlighting the varied presentation and ...

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance and developmental delay; it is a generally sporadic disorder, although autosomal dominant inheritance has been reported. Some of the manifestations characterize both the Weaver and Sotos syndrome, and distinction between the two is mainly by clinical examination ...

Neuroleptic-induced catatonia (NIC), manifested in an extrapyramidal-catatonic syndrome, has been sporadically reported in the literature. Confusion surrounds its relationship to neuroleptic malignant syndrome (NMS) and extrapyramidal reactions to neuroleptics. This study examined (a) its clinical presentation and response to benzodiazepines, (b) the hypothesis that NIC and NMS are on the ...

BACKGROUND AND PURPOSE: "Sinking skin flap" (SSF) syndrome is a rare complication after large craniectomy that may progress to "paradoxical" herniation as a consequence of atmospheric pressure exceeding intracranial pressure. The prevalence and characteristics of SSF syndrome after hemicraniectomy for malignant infarction of the middle cerebral artery are not well ...

Paraneoplastic syndromes represent a group of clinical manifestations widely separated from the primary site of malignancy, which are not caused by local infiltration of the tumor or its metastases. Alterations of hemostasis and vascular abnormalities commonly accompany the progression of malignant disease. Hypercoagulability, changes in coagulation factors, anticoagulant proteins, circulating ...

Psychiatric diagnoses are currently categorized on a syndromic basis. The syndrome of catatonia, however, remains in a diagnostic limbo, acknowledged predominantly as a subtype of schizophrenia. Yet, catatonia is present in about 10% of acutely ill psychiatry patients, only a minority of whom have schizophrenia. Among those with comorbid affective ...

This article reviews literature on three emergencies in Parkinson's disease (PD): Akinetic crisis, severe dyskinesias or life-threatening dyskinesias, and polyneuropathy during duodenal L-Dopa gel infusion treatment. Akinetic crisis is also known as Parkinsonian hyperpyrexia, Neuroleptic-like malignant syndrome, Acute akinesia, and Malignant syndrome in parkinsonism. It appears in 0.3% of PD ...

Neuroleptic malignant syndrome (NMS) is a life-threatening neurologic emergency that may be caused by neuroleptic agents of any class. The association with hyperosmolar hyperglycemic state (HHS) is rare and carries a grave prognosis. We describe the case of a 25-year-old male patient with haloperidol-induced NMS complicated by HHS that culminated ...

We describe a child who developed a malignant hyperthermia-like syndrome after exposure to succinylcholine and halothane. Many features of a typical malignant hyperthermia episode were present, including tachydysrhythmia, tachypnea, and fever in association with metabolic acidosis, hyperCKemia, myglobinemia, and rapid recovery without residual effects upon administration of dantrolene, sodium bicarbonate, ...

Withdrawal neuroleptic malignant syndrome is a not widely recognised variant of the rare adverse consequence of neuroleptic medication, neuroleptic malignant syndrome (NMS). We present a case to bring the disorder to the attention of clinicians responsible for treating serious mental illness and medical and judicial officers who may be involved ...

We report the case of a 24-year-old female patient who initially developed a neuroleptic malignant syndrome after haloperidol exposure and experienced 6 years later a serotonin syndrome after repeated fluoxetine exposure. The patient did not respond to symptomatic treatment and died in this latter episode. At necropsy, no gross or ...

Catatonia is the psychiatric syndrome of disturbed motor functions amid disturbances in mood and thought first described in 1874. It was quickly found in 10% to 38% of psychiatric populations. After it was tied to schizophrenia as a type in the psychiatric classification, its recognition became increasingly limited and by ...

OBJECTIVE: We report a case of neuroleptic malignant syndrome in a woman who assumed risperidone for schizoaffective disorders. CASE SUMMARY: A 45-year-old woman affected by schizoaffective disorders was admitted to Infectious Disease unit of Crotone Hospital because of a diagnosis of a fever of unknown origin. Clinical evaluation documented confusion ...

We report the case of a patient with Parkinson's disease who developed rapidly progressive weakness of the four limbs due to an acute motor axonal neuropathy (AMAN). This occurred days after a neuroleptic malignant syndrome (NMS). Serologic evidence of a preceding Campylobacter jejuni infection was detected and treatment with intravenous ...

Joubert syndrome is a rare autosomal recessive disease characterized by hypotonia, ataxia, episodic hyperpnea, psychomotor retardation, abnormal ocular movements, cerebellar vermian hypoplasia, and molar tooth sign on magnetic resonance imaging. Neuroleptic malignant syndrome is an uncommon and potentially fatal idiosynchratic reaction of antipsychotic drugs, in which the clinical scenario encompass ...

ABSTRACT: INTRODUCTION: A rare side effect of antipsychotic medication is neuroleptic malignant syndrome, mainly characterized by hyperthermia, altered mental state, haemodynamic dysregulation, elevated serum creatine kinase and rigor. There may be multi-organ dysfunction including renal and hepatic failure as well as serious rhabdomyolysis, acute respiratory distress syndrome and disseminated intravascular ...

We describe a patient with eczema craquelé associated with adenocarcinoma of the pancreas. Following a Whipple operation, zinc malabsorption was ruled out as the cause based on the distribution of the dermatitis, alkaline phosphatase levels within reference range, and response to pancreatic enzyme replacement therapy. Because the patient's skin changes ...

Catatonia is characterized by the predominance of psychomotor abnormalities and shares many clinical, biological and treatment response features with the neuroleptic malignant syndrome (NMS), a rare adverse reaction to psychoactive medications. It has been advocated that the two conditions should be placed along the same spectrum of disorders. A case ...

Atypical antipsychotics and selective serotonin reuptake inhibitors (SSRIs) have been prescribed extensively, often in combination with each other. When toxic encephalopathy develops with neuromuscular and autonomic symptoms in a patient taking medication including atypical antipsychotics, it has tended to be diagnosed as neuroleptic malignant syndrome (NMS). However, there have recently ...

A rare side effect of antipsychotic medication is neuroleptic malignant syndrome, mainly characterized by hyperthermia, altered mental state, haemodynamic dysregulation, elevated serum creatine kinase and rigor. There may be multi-organ dysfunction including renal and hepatic failure as well as serious rhabdomyolysis, acute respiratory distress syndrome and disseminated intravascular coagulation. The ...

Silver-Russell syndrome is a rare genetically heterogeneous disorder in which patients demonstrate intrauterine and postnatal growth retardation, triangular facies, excessive sweating during early childhood, late closure of the anterior fontanelle and skeletal asymmetry. An association with malignancy exists and only one previous intracranial tumour has been reported, a craniopharyngioma. We ...

We report a young woman with genetically confirmed Pendred syndrome and discuss the current therapeutic strategies of dyshormonogenetic goitre. A small diffuse thyroid enlargement developed during infancy and although substitution therapy with L-thyroxine was adequate, it progressed and underwent multinodular transformation. Cervical ultrasound at the age of 22 years demonstrated ...

Muir-Torre syndrome is a rare genodermatosis (hereditary cancer syndrome associated with distinguishing cutaneous signs) characterised by occurrence of sebaceous neoplasia and visceral malignancy. Colorectal cancer is the commonest visceral malignancy associated with Muir-Torre syndrome. We discuss a case report along with recommendations for diagnosis and screening.

PURPOSE OF REVIEW: To conduct a critical review of recent data pertaining to the clinical and therapeutic aspects of peripheral neuropathies in the setting of malignancies, with the exception of paraproteinemic neuropathies. Our search extended to the past 2 years, using a PubMed search strategy. RECENT FINDINGS: In the field ...

Malignant syndrome is a rare complication occurring during the course of drug treatment for Parkinson's disease. It resembles neuroleptic malignant syndrome and is characterized by fever, marked rigidity, altered consciousness, leucocytosis and elevated creatine kinase. Malignant syndrome is a potentially fatal condition and awareness of this condition is imperative for ...

Although the relationship between antipsychotic medication, particularly second-generation antipsychotics (SGAs), and metabolic disturbance is increasingly accepted, there is an important, but little recognised, potential interaction between this and the other important serious adverse effect of neuroleptic malignant syndrome (NMS). We report a case of a 35-year old female who developed ...

The PTEN hamartoma tumor syndromes (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the tumor suppressor PTEN. These syndromes are driven by cellular overgrowth, leading to benign hamartomas in virtually any organ. Cowden syndrome (CS), the prototypic PHTS syndrome, is associated with increased susceptibility to ...

The use of sympathomimetic appetite suppressants and serotonin-selective reuptake inhibitors (SSRIs) has been questioned due to anecdotal reports of serotonin syndrome. This survey of bariatric physicians using these medications in clinical practice did not find any cases of serotonin syndrome among 1174 patients. The monitored use of the combination of ...

Postural tachycardia syndrome associated with a vasovagal reaction was recorded in a young volleyball player after an excess intake of Red Bull as a refreshing energy drink. Considering the widespread use of Red Bull among young people who are often unaware of the drink's drug content, this case report suggest ...

OBJECTIVE: Our goal was to report a case of malignant neuroleptic syndrome in a patient administered with both oxcarbazepine (OXCBZ) and amisulpride (AM). METHOD: We present a case of a young man who presented with symptoms of malignant neuroleptic syndrome after progressive titration of OXCBZ (1,200 mg) added to the ...

Hepatopulmonary syndrome is an uncommon complication of nonacute liver failure, and in rare cases, hypoxia may be the presenting sign of liver dysfunction. The condition, once thought to be a contraindication, is improved in most cases by transplantation. There is a significant risk of postoperative, hypoxia-related morbidity and mortality in ...

Propofol (Diprivan) is an intravenous sedative hypnotic that is used in the induction and maintenance of anesthesia and sedation. High-dose infusions have been associated with several serious adverse effects and, when combined, they are known as propofol infusion syndrome (PRIS). Although PRIS is rare, it is frequently fatal if not ...

Primary ciliary dyskinesia (PCD), is a rare congenital disease group, and contained Kartageners syndrome. This syndrome is characterized with situs viscerum inversus, sinusitis and bronchiectasis. In some elderly patients, broncholithiasis may be associated with PCD. The coexistence of early adolescence PCD and broncolithiasis has not been reported yet. We report ...

Solitary rectal ulcer syndrome is a rare disorder of childhood and usually goes unrecognised or misdiagnosed because it can mimic various other rectal entities. Here a 9-year old boy presented with bleeding per rectum and altered bowel habits. Colonoscopy revealed multiple ulcers which on histopathological examination showed features of SRUS ...

BACKGROUND: Longitudinal melanonychia (LM) is characterized by the appearance of a longitudinal pigmented band in the nail plate. Melanonychia can occur from many causes, including racial predisposition, trauma, drugs, pregnancy, Addison disease, Peutz-Jeghers syndrome, Laugier-Hunziker syndrome, Bowen disease, onychomycosis, benign nail matrix nevi, and melanoma. OBJECTIVE: We present a case ...

Some malignant neoplasias induce the appearance of local or systemic manifestations at distant sites, which can act as indicators of their presence in a process named paraneoplastic syndrome. Granulomatous reactions have already been described related to malignancies. This report describes a case of synchronous orofacial granulomatosis and mucoepidermoid carcinoma and ...

The natural history of paroxysmal nocturnal hemoglobinuria (PNH) clinical subcategories (classic PNH and aplastic anemia [AA]/PNH syndrome) is still unknown. We retrospectively studied 460 PNH patients diagnosed in 58 French hematologic centers from 1950 to 2005. The median (SE) follow-up time was 6.8 (0.5) years. The median survival time (SE) ...

Esthesioneuroblastoma (ENB) is a rare malignant neoplasm arising from the olfactory neuroepithelium. ENB has no distinctive clinical picture, but often presents as chronic unilateral nasal obstruction or epistaxis. It has a long natural history; the 5-year survival rates have been estimated at 82%. A number of paraneoplastic syndromes have been ...