BACKGROUND: The parkinsonian complex of Guam is an endemic neurodegenerative condition, which has been described only in the islands of the Guam archipelago and at the Kii peninsula of Japan. Up to now, only one "sporadic" case has been described (including the autopsy) in Japan. STUDY OBJECTIVE: To describe the ...

Clinical evidence suggests that patients with Chromosome 22q11.2 deletion (Ch22q11.2D) have an increased prevalence of atopic and autoimmune disease and this has been without explanation. We hypothesized that the increase in atopy was due to homeostatic proliferation of T cells leading to a Th2 skew. We performed intracellular cytokine staining ...

BACKGROUND: Little information is available on a long-term follow-up in Bartter syndrome type I and II. METHODS: Clinical presentation, treatment and long-term follow-up (5.0-21, median 11 years) were evaluated in 15 Italian patients with homozygous (n = 7) or compound heterozygous (n = 8) mutations in the SLC12A1 (n = ...

Objective: The objectives of the study were to determine the spectrum of the clinical and pathological findings, the management and prognosis of patients of transient myeloproliferative syndrome (TMS) and congenital leukaemia. Study Design: Case series. Place and Duration of Study: The study was conducted over a period of 8 years, ...

Background Congenital heart defects (CHD) are common in patients with Down's syndrome; however, patients living in residential centres have not always been screened for CHD in the past. The aim of this study was to investigate the prevalence of CHD in patients with Down's syndrome living in residential centres, and ...

ABSTRACT Tolosa-Hunt syndrome is a steroid responsive painful opthalmoplegia due to a nonspecific inflammation of the cavernous sinus. Autoimmune hemolytic anemia is caused by antibodies directed against unmodified autologous red cells. They are both rare conditions. Here we describe the simultaneous occurrence of Tolosa-Hunt syndrome and severe hemolytic crisis in ...

BACKGROUND: PHACE syndrome describes a spectrum of anomalies associated with large facial infantile hemangiomas and characterized by posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. With improved recognition and imaging practices of infants with PHACE syndrome, additional associations have been identified. To ...

Triple A syndrome is named after the main symptoms of alacrima, achalasia, and adrenal insufficiency but also presents with a variety of neurological impairments. To investigate the causes of progressive neurodegeneration, we examined the oxidative status of fibroblast cultures derived from triple A syndrome patients in comparison to control cells. ...

BACKGROUND: Loeys-Dietz syndrome is a recently recognized multisystemic disorder caused by mutations in the genes encoding the transforming growth factor-beta receptor. It is characterized by aggressive aneurysm formation and vascular tortuosity. We report the musculoskeletal demographic, clinical, and imaging findings of this syndrome to aid in its diagnosis and treatment. ...

RATIONALE: Patients with chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) (overlap syndrome) are more likely to develop pulmonary hypertension than patients with either condition alone. OBJECTIVES: To assess the relation of overlap syndrome to mortality and first-time hospitalization because of COPD exacerbation and the effect of continuous ...

We present chest radiographs, echocardiographic image, and selective coronary angiogram of an 18-year old patient with Hutchinson-Gilford progeria syndrome.

OBJECTIVE: CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis and spinal abnormalities) is a rare, complex overgrowth syndrome with serious morbidity. In this communication we studied the presence of central and thoracic phlebectasia in patients with CLOVES syndrome and its clinical implications. METHODS: We conducted a comprehensive ...

We compared prevalence of hospitalization, endotracheal intubation, and death among case-patients with and without Down syndrome during pandemic (H1N1) 2009 in Mexico. Likelihoods of hospitalization, intubation, and death were 16-fold, 8-fold, and 335-fold greater, respectively, for patients with Down syndrome. Vaccination and early antiviral drug treatment are recommended during such ...

OBJECTIVE: Frey's syndrome is a frequent sequela of parotidectomy, causing facial sweating and flushing because of gustatory stimuli. Although botulinum toxin type A has become first-line therapy for Frey's syndrome, some patients become resistant. In this study, we investigated whether another serotype, botulinum toxin type B, might be an effective ...

Morquio syndrome is a hereditary mucopolysaccharide disorder presenting with an abnormality of the craniocervical junction from childhood. We describe an adult patient who presented with Morquio syndrome who had subglottic narrowing of the airway, restrictive pulmonary disease, and mild mitral regurgitation and trivial aortic regurgitation. The anesthetic management of this ...

BACKGROUND: Inadvertent rapid infusion of parenteral lipid emulsion is an inherent risk when fats are infused separately from the dextrose-amino acid solution. Patients may experience hypertriglyceridemia that resolves upon discontinuation of the infusion; in other cases, complications such as fat overload syndrome can occur. Since 2004, fish oil-based emulsions have ...

Patients with the Wiskott-Aldrich syndrome are at high risk for development of lymphomas, which are predominantly extranodal and of the immunoblastic type. We present a case of a self-limited lymphoproliferation with features of lymphoplasmacytic lymphoma arising in a patient with the Wiskott-Aldrich syndrome. The patient also had stigmata of von ...

Periods of recovery were examined in patients with and without deficit syndrome schizophrenia. Fifty-six patients with schizophrenia were studied, 39 of whom were divided into deficit and nondeficit syndrome schizophrenia subtypes using a proxy method. We also studied 39 nonpsychotic depressive comparison patients. Patients were evaluated as part of the ...

We report a patient with Lewis-Sumner syndrome (LSS) who showed an improvement only with plasma exchange (PE). The patient, 32-yr old man, had progressive multifocal motor-sensory deficits with persistent, multiple conduction blocks and marked slowing of NCVs. Nerve pathology supported a diagnosis of demyelinating neuropathy by revealing marked loss of ...

We report on two previously healthy patients who developed severe form of postural orthostatic tachycardia syndrome (POTS) following an electric injury. Both the patients developed symptoms of orthostatic intolerance in the form of dizziness, fatigue, lightheadedness, and palpitations, weeks to months after electrical injury. Orthostatic intolerance produced considerable functional impairment ...

Vasoactive intestinal peptide-producing tumour (VIPoma) or Verner-Morrison syndrome is a very rare neuroendocrine tumour. It occurs in less than ten percent of all pancreatic islet cell tumours, and about 70 percent to 80 percent of these tumours originate from the pancreas. Diagnosis is characteristically delayed. The first-line treatment is surgical. ...

Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anaemia (DBA), and Shwachman-Diamond syndrome (SDS) comprise major inherited bone marrow failure syndromes (IBMFS). Adverse events include severe bone marrow failure (BMF), myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML), and solid tumours (ST). The natural history of FA is well characterised; hazard rates ...

BACKGROUND: Iron overload syndromes include a wide spectrum of genetic and acquired conditions. Recent studies suggest suppressed hepcidin synthesis in the liver to be the molecular basis of hemochromatosis. However, a liver with acquired iron overload synthesizes an adequate amount of hepcidin. Thus, hepcidin could function as a biochemical marker ...

The constitutional pericentric inversion on chromosome 3, inv(3), is rarely found in a normal population. The aim of our study was to investigate its possible link to hematologic malignancy. Chromosomes from bone marrow cells in 890 patients with hematologic disorders were analyzed with the Q-banding technique. Thirty-four patients had inv(3) ...

The use of selective serotonin reuptake inhibitors (SSRIs) poses the risk of both serotonergic excess and discontinuation syndromes in patients. The incidence of these syndromes is contingent on duration/amount taken and cessation/interruption of the SSRI regimen, respectively. Here, the authors report a dispensing error in an 18-month-old child that resulted ...

Patients with locked-in syndrome, although fully conscious, have quadriplegia, mutism, and lower cranial nerve paralysis. The preservation of vertical gaze and upper eyelid movements usually enables them to interact with the environment through an eye-coded communication. However, locked-in syndrome may be complicated by the development of an opsoclonus-myoclonus syndrome that ...

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes) syndrome is a rare paraneoplastic syndrome in which nearly all patients have a monoclonal lambda restricted plasma cell disorder. We investigated whether patients with POEMS have abnormal serum immunoglobulin free light chain (FLC) ratios. Fifty patients with newly diagnosed POEMS syndrome were ...

OBJECTIVE: To assess vestibular evoked myogenic potentials in patients with fibromyalgia syndrome. METHODS: Twenty-four patients with fibromyalgia syndrome (two men and 22 women) and 21 female controls were included in the study. All patients underwent vestibular evoked myogenic potential testing. RESULTS: Statistical comparison of fibromyalgia patients with control subjects showed ...

Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith-Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome ...

Fentanyl is frequently used for analgesia during emergency procedures. We present the cases of 2 patients who developed agitation and delirium after intravenous fentanyl administration. These patients were chronically taking selective serotonin reuptake inhibitors (SSRIs). Both developed neuromuscular examinations consistent with serotonin syndrome, a diagnosis that must be established on ...

Asplenia syndrome is commonly associated with complex structural cardiac malformations, and junctional tachycardia (JT), which may compromise hemodynamic status, has been reported in association with asplenia syndrome.(1) We report successful radiofrequency catheter ablation of reentrant JT in a patient with asplenia syndrome.

We report a case of longstanding multidrug resistant Schnitzler's syndrome that finally went into clinical remission upon treatment with anakinra and review the literature concerning IL1-RA treatment for Schnitzler's syndrome. A now 71-year-old patient presenting with recurring episodes of urticaria and fever and secondary weight loss for the past 16 ...

Infantile scimitar syndrome (SS) carries significant mortality. Consistent management guidelines have not been well established, and outcomes continue to be disappointing. We present our experience managing an SS patient with complex anatomy who developed stenosis of the pulmonary veins contralateral to the hypoplastic lung.

BACKGROUND: Visceral leishmaniasis is a protozoan infection usually asymptomatic, but can progress to fatal disease in immunocompromised hosts, especially in HIV patients. Visceral leishmaniasis is rare among patients under immunosuppressive therapies, and even more among patients under anti-TNF-alpha treatment, where only four cases have been described. OBJECTIVE: 1) To describe ...

OBJECTIVES:: Neuropsychiatric symptoms are common in patients with Alzheimer disease (AD). Treatment for both AD and psychiatric disturbances may affect the clinical observed pattern and comorbidity. The authors aimed to identify whether particular neuropsychiatric syndromes occur in untreated patients with AD, establish the severity of syndromes, and investigate the relationship ...

A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction. General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. In this case, anesthesia ...

Laboratory evidence and clinical evidence suggest that some patients with myelodysplastic syndrome (MDS) have immunologically mediated disease. This article describes the laboratory evidence supporting a role for the immune system in the marrow failure of MDS and clinical trials using IST in these patients.

Cytomegalovirus (CMV) infection is not only a common complication after liver transplantation (OLT), but also a significant contributing factor to morbidity and mortality. We investigated risk factors for CMV syndrome and tissue-invasive CMV disease in CMV antigenemia patients after OLT in a CMV endemic area. CMV antigenemia was regarded to ...

A sixty-four year old man with a past history of hypercholesterolemia, asthma, food allergy, epilepsy and myocardial infarction was admitted to the emergency department because of a generalized erythema, nausea, vomiting, and chest pain after taking an oral dose of amoxicillin. Electrocardiography showed ST segment elevation in anterior leads. After ...

Parry-Romberg syndrome is a rare inflammatory disorder characterized by progressive hemifacial atrophy and ocular involvement. Two patients with Parry-Romberg syndrome who had mild heterochromic uveitis but developed profound ocular hypotony were evaluated. A 17-year-old girl and a 32-year-old woman with Parry-Romberg syndrome developed chronic uveitis with gradual worsening of intraocular ...

INTRODUCTION: Studies to assess the hemodynamic status of patients with moyamoya syndrome are often done to determine the need for surgical revascularization. These studies, including transcranial Doppler (TCD) ultrasonography to assess vasomotor reactivity (VMR) to CO(2), are generally considered safe. CASE: We describe a patient with moyamoya syndrome who experienced ...

We cared for a victim of the Wenchuan earthquake who was rescued after being buried in rubble for 52 hours. On admission to the hospital, the patient had severe hyperkalemic acidosis and necrosis of both legs, requiring bilateral amputation. In the operating room, the patient developed ventricular fibrillation. The patient ...

PURPOSE: The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. The 4 most frequent syndromes are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS). ...

We describe a patient affected by severe incomplete locked-in syndrome (LIS) and left neglect caused by a combination of vascular lesions. Our patient's neglect prevented the use of augmentative communication devices based on a computerized eye-tracker system. For this reason, we adapted a visual scanning training for neglect rehabilitation. At ...

OBJECTIVE: To investigate the frequency of bipolar disorder, dopamine dysregulation syndrome and punding in Parkinson's disease patients from a Brazilian movement disorders clinic. METHOD: One hundred patients underwent a comprehensive psychiatric examination composed of MINI-plus and specific questionnaires to investigate dopamine dysregulation syndrome and punding. RESULTS: We identified, respectively, one ...

PURPOSE OF REVIEW: Several novel therapeutic approaches exist for treatment of patients with myelodysplastic syndrome, with goals to improve quality of life and prolong survival. This review highlights new therapies from the last 18 months. RECENT FINDINGS: Immunosuppressants, erythropoiesis-stimulating agents in combination with granulocyte colony-stimulating factor or all-trans-retinoic-acid have shown ...

Cornelia de Lange Syndrome is a well-known congenital disease characterized by multiple malformations that make anesthetic management a challenge. Since few individuals survive the earliest stage of life, papers describing the details of anesthetic management are mainly reported in the pediatric population. These individuals who move into adulthood develop physical ...

Twiddler syndrome occurs when a patient intentionally or unintentionally manipulates an implantable generator (usually a pacemaker) and dislodges the pacing leads, causing malfunction of the device. Though the syndrome has been described in patients with pacemakers, to our knowledge only one spontaneous case has been described in patients undergoing deep ...

PURPOSE: To report the clinical outcome and complications of the Scott Foster procedure for treating abduction deficiency in patients with Duane's syndrome type 1 and sixth nerve palsy. METHODS: A retrospective, interventional case series included 62 consecutive patients (62 eyes: 38 eyes with Duane's syndrome and 24 eyes with sixth ...

CHARGE syndrome is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T-cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adolescence, we studied post-neonatal ...