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 our ...

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. ...

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 ...

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 been ...

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 ...

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. ...

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 ...

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) ...

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 for ...

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 ...

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 ...

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 ...

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: 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 ...

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 ...

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 ...

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

Purple urine bag syndrome is an uncommon condition characterised by purple colouring of the urine in a chronically catheterised patient. Typically seen in patients with a Foley catheter in the bladder, we report an uncommon case of purple urine bag syndrome in a patient with a long-term nephrostomy tube and ...

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 ...

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 ...

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.

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 ...

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 ...

Little information is available on a long-term follow-up in Bartter syndrome type I and II. 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 = 10) or ...

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 ...

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. Immunosuppressants, erythropoiesis-stimulating agents in combination with granulocyte colony-stimulating factor or all-trans-retinoic-acid have shown improvement in decreasing the need ...

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 ...

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

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

GOALS/BACKGROUND: The cannabis hyperemesis syndrome, which is associated with chronic cannabis use, was recently reported in seven case reports and one clinical series of ten patients from Australia. We further characterize this syndrome with eight well-documented cases in the United States and report results of cannabis discontinuation and cannabis rechallenge. ...

We report extremely rare combination of central and peripheral demyelination with immune polymyositis in a patient with Bardet-Biedl syndrome. The inciting factor postulated was mycoplasma pneumonia infection.

Paroxetine discontinuation symptoms can at times be severe enough to reduce the quality of life. However, it is currently not possible to predict the occurrence of discontinuation syndrome before the initiation or discontinuation of paroxetine treatment. In this study, we investigated the effects of genetic polymorphisms in the serotonin 1A, ...

BACKGROUND: A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The patient underwent surgery, which confirmed a malignant neck paraganglioma with metastasis to a cervical lymph node. He had no family history of carotid body tumors or pheochromocytoma. INVESTIGATIONS: Measurements of plasma free ...

Angelman syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. Many drugs that act on the CNS (Central Nerve System) during anesthesia are believed to exert their effects via the GABA receptors. We describe the anesthesia ...

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.

Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems. The typical facies resembles the make-up worn in Japanese Kabuki theater. Although there are several clinical findings, the ocular findings affecting vision have been underreported. The current patient shows esotropia and previously unreported nummular corneal opacities.

Mitral valve (MV) leaflet billowing, prolapse, and excessive tissue are hallmarks of Barlow syndrome. Successful MV repair can be a challenge in these oftentimes young and otherwise healthy patients. We herein present details on our stepwise approach to MV repair for Barlow syndrome including: (1) surgical approach; (2) MV exposure; ...

Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) syndrome represents a serious therapeutic and diagnostic challenge, since it is usually refractory to most drugs and lacks biological markers. Response to intravenous lidocaine administration has been reported in some patients while it has failed in others. We report a ...

Goldenhar syndrome is a rare congenital anomaly which consists of a triad of an ocular dermoid cyst, preauricular skin tags and vertebral dysplasia. We report two cases of Goldenhar syndrome, diagnosed in a 4-year-old girl and in a 20-year-old young adult. The dermoid cyst is a benign tumour with serious ...

Recipients of hematopoietic stem cell transplantation (HSCT) frequently have iron overload resulting from chronic transfusion therapy for anemia. In some cases, for example, in patients with myelodysplastic syndromes and thalassemia, this can be further exacerbated by increased absorption of iron from the gut as a result of ineffective erythropoiesis. Accumulating ...

Marfan's syndrome (MFS) is an autosomal dominant disorder of connective tissue involving musculoskeletal, cardiovascular and ocular systems. Aortic disease is the leading cause of mortality in MFS. Among all, dilated cardiomyopathy in the absence of severe valvular dysfunction is a very rare cardiovascular feature of MFS. We report a case ...