We report the efficacy of the ketogenic diet in refractory epilepsies focusing on outcomes with regard to epilepsy syndromes and etiology in children and adults with refractory epilepsy. Sixty-four consecutive children and four adults were prospectively enrolled from 2002 to 2009; seven were excluded from analysis. The classical ketogenic diet ...

AIMS: Catatonia is a neuropsychiatric syndrome characterized by alterations in motor behavior, vigilance, thought and mood. Catatonia syndrome occurs in many neuropsychiatric and medical conditions, but it is very rarely mentioned as occurring during alcohol withdrawal. We think that this co-occurrence could be underestimated in clinics because alcohol withdrawal symptoms ...

INTRODUCTION: Juvenile polyposis syndrome (JPS) is a rare, autosomal dominant condition. The polyps predominate in the colon but may be seen less commonly in the stomach or small intestine. We report an unusual case of JPS associated with massive gastric polyposis, resulting in a giant stomach, severe anemia, hematemesis, protein-losing ...

Gastric antral vascular ectasia (GAVE) syndrome represents a rare cause of gastrointestinal bleeding. More extensive small-bowel involvement must be excluded in those patients with GAVE syndrome in whom aggressive endoscopic treatment of antral lesions results in lack of control of digestive bleeding, and for this subset of patients videocapsule endoscopy ...

Objective The purpose of this study was the clinical and pathological characterisation of a new autosomal dominant gastric polyposis syndrome, gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Methods Case series were examined, documenting GAPPS in three families from Australia, the USA and Canada. The affected families were identified ...

A 66-year-old man developed dysphagia during dinner and was evaluated 2 d later in our hospital because of persistent symptoms. Upper gastrointestinal endoscopy showed no impacted food, but advanced esophageal cancer was suspected based on the presence in the upper esophagus of a large irregular ulcerative lesion with a thick ...

A plea is made for not using in publications the terms J-wave syndromes and early repolarization until such terms are properly defined by appropriate task forces established by recognized authorities. The currently used electrographic terminology, including J-point elevation, meets our needs.

Pancoast's syndrome includes Horner's syndrome, atrophy of the hand muscles and shoulder, axilla or arm pain. This syndrome is caused by an apical thoracic lesion, most commonly a bronchogenic carcinoma, which invades the brachial plexus roots and the cervicothoracic sympathetic chain. Several nonmalignant causes are documented in the literature with ...

: Giant fornix syndrome is a chronic copiously purulent conjunctivitis seen in elderly patients with dehiscence of the levator palpebrae superioris aponeurosis. We report a case of giant fornix syndrome secondary to methicillin-resistant Staphylococcus aureus conjunctivitis that was recalcitrant to standard treatment modalities, and we describe 2 novel interventions for ...

Parry-Romberg syndrome (PRS) is a sporadic disease of unknown etiology with typical onset in childhood or in young adults. It is characterized by a slow and progressive atrophy affecting one side of the face, the skin, the subcutaneous tissue, the muscles, the cartilages, and the underlying bony structures. The neurological ...

The presence of transient lesions involving the splenium of the corpus callosum (SCC) has been described in patients with encephalitis or encephalopathy of varied etiology. We have termed it RESLES (reversible splenial lesion syndrome). To describe 3 additional patients (2 encephalitis, 1 hypoglycemia) and review the literature to define this ...

Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor. Here we report on a newborn with a prenatal history of polyhydramnios who presented with nephromegaly, hypotonia, macrosomia, facial dysmorphism, cholestasis and characteristic ultrasonographic and computed tomographic appearances of renal ...

A 10-year-old girl with anorexia nervosa developed the refeeding syndrome following cautious reintroduction of nutrition, emphasizing that even with cautious refeeding a shift in fluid, glucose, and electrolytes can still occur, increasing the risk of morbidity and mortality in this ever growing vulnerable group. Biochemical, nutritional, and anthropometrical monitoring in ...

To describe the etiology and complications of the refeeding syndrome. Complications of the refeeding syndrome can include electrolyte abnormalities, heart failure, respiratory failure, and death. This syndrome is of particular importance to critically ill patients, who can be moved from the starved state to the fed state rapidly via enteral ...

: Alport syndrome is a hereditary basement membrane disease that typically involves the kidney, the cochlea, and the eyes. Characteristic ocular problems include posterior polymorphous corneal dystrophy, lenticonus, and dot-and-fleck retinopathy. : A 48-year-old male patient with Alport syndrome presented with corneal and retinal changes. In 2003, he was diagnosed ...

Short anagen syndrome (SAS) is a recently described disease, but is rarely reported in the literature probably because of its under-recognized status. It is characterized by the inability to grow long hair because of an idiopathic short anagen phase. The condition is not associated with hair shaft fragility or hair ...

Introduction: Are there electrophysiological findings that predict response to intravenous immunoglobulin (IVIg) in patients with lower motor neuron (LMN) syndromes without multifocal conduction block (MCB)? Methods: We enrolled 9 patients with LMN syndromes without MCB to receive 18 weeks of IVIg therapy. Response was measured at weeks 2 and 18 ...

Various cutaneous signs presenting in childhood, for example café-au-lait macules, may have systemic cancer associations. Indeed, this may be the first manifestation of the underlying cancer predisposition. The syndromes covered in this review fall into four main categories: (i) DNA damage processing defects including Fanconi anaemia, ataxia telangiectasia, Bloom syndrome, ...

This article reviews the current state of knowledge regarding the epidemiology of frailty by focusing on 6 specific areas: (1) clinical definitions of frailty, (2) evidence of frailty as a medical syndrome, (3) prevalence and incidence of frailty by age, gender, race, and ethnicity, (4) transitions between discrete frailty states, ...

Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, ...

Objective: To add to the current scant literature on rare clinical presentations of Sheehan syndrome.Methods: We describe the study patient's clinical, laboratory, and imaging findings and review the literature for publications regarding varied clinical presentations of Sheehan syndrome.Results: A 36-year-old multigravida woman developed severe postpartum hemorrhage and disseminated intravascular coagulation ...

Evans syndrome is a very rare hematologic autoimmune disease, characterized by a direct Coombs' positive hemolytic anemia and immune thrombocytopenic purpura without a known underlying etiology. The clinical course is generally chronic with frequent relapses and remissions. Evans syndrome usually is complicated by hemolytic or thrombocytopenic symptoms. This is seldom ...

Inappropriate inhibition of atrial pacing due to T-wave oversensing (TWOS) was observed in a patient presenting with congenital long QT syndrome, treated with an implantable cardioverter defibrillator (ICD) and beta-adrenergic blocker. Development of TWOS was associated with further QT interval prolongation in the absence of amplitude changes in the intracardiac ...

Introduction: Poland's syndrome (PS) is an inborn defect consisting in unilateral underdevelopment of the pectoralis major muscle, homolateral anomalies of upper extremity, as well as mammary gland aplasia. PS occurrence frequency is determined as 1:7000 to 1:100 000. Turner's syndrome (TS) results from lack of one sex chromosome or its ...

Cerebrovascular diseases in patients with Klippel-Trenaunay Syndrome (KTS) are uncommon, and the mechanism of stroke has remained elusive. We describe a patient with KTS who experienced a transient ischemic attack (TIA). Contrast-transcranial Doppler with the Valsalva maneuver revealed a right-to-left shunt and contrast-transesophageal echocardiography confirmed patent foramen ovale. Ultrasonography revealed ...

Auriculo-condylar syndrome (ACS, OMIM 602483) is an autosomal dominant condition with marked phenotypic variability. In some patients, the condition may be limited to the auricular deformity which can vary from auricular cleft, cupped helix to the 'question mark' ear, where there is constriction between the middle and lower thirds of ...

In May-Thurner syndrome, the left common iliac vein is compressed between the overlying right common iliac artery and the underlying vertebral body. Chronic and/or repetitive compressions at this site cause fibrosis of the vein and thus stenosis, potentially occluding the lumen. This report describes a case of May-Thurner syndrome discovered ...

Skin manifestations of immune reconstitution inflammatory syndrome in response to highly active antiretroviral therapy may account for up to 50% of the clinical presentations in this syndrome. Viable or dying infective antigens, host antigens, tumoral antigens, and others may target immune reconstitution inflammatory syndrome, resulting in a wide spectrum of ...

Ross syndrome is a rare disorder first described in 1958 with partial autonomic dysfunction. It has three basic components including unilateral or bilateral segmental anhidrosis, Adie's tonic pupils and areflexia or hyporeflexia of deep tendon reflexes. The most disturbing symptom in the patients is segmental compensatory hyperhidrosis and often the ...

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by sensorineural hearing loss and multiple cranial nerve palsies, usually involving the VIIth and IXth to XIIth cranial nerves. We describe the clinical and pathological features of a 33-year-old woman with BVVLS. The patient developed progressive exertional dyspnea, with clinical ...

Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy that associates, in 70% of cases, with genetic or acquired disorders leading to dysregulation of the alternative pathway of complement. Autoantibody directed against Factor H causes at least 6% to 10% of aHUS cases, but only a few ...

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability of cells to produce sufficient energy in the form of adenosine 5'-triphosphate. Although it is one of the most common maternally inherited mitochondrial disorders, its exact incidence is unknown. Caused ...

Moebius syndrome is a rare disease characterized by congenital facial paralysis and abducens palsy. Involvement of other cranial nerves, orofacial dysmorphism, and limb abnormalities are frequently associated. Reported here is the case of a 10-month-old child born with Moebius syndrome and presenting with holoprosencephaly, following exposure in utero to misoprostol. ...

Kallmann syndrome (KS) is defined by the association of idiopathic hypogonadotropic hypogonadism and anosmia/hyposmia. Diagnosis is frequently delayed, however, because hypogonadotropic hypogonadism is usually not apparent until puberty and individuals with anosmia/hyposmia are often unaware of this sensory deficit. Mutations in at least six genes have been associated with KS; ...

When a patient enters the acute or critical care environment, it is imperative that the nurse select the best lead for monitoring the patient based on initial interpretation of the 12-lead electrocardiogram. Understanding that significant electrocardiogram changes can occur in the absence of chest pain presents a challenge, supporting the ...

Cannabinoid hyperemesis is a syndrome characterized by severe nausea and hyperemesis associated with chronic marijuana abuse and marked by compulsive bathing habits, which temporarily alleviate symptoms. We describe the syndrome in 4 adult patients for whom extensive gastrointestinal evaluations failed to identify another clear cause. Cessation of marijuana use resulted ...

The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in diseases of the head and neck is found mainly in specialties dealing with medically compromised individuals (paediatric dentistry, special care dentistry, oral ...

As many as forty to fifty per cent of children with Down syndrome are born with a cardiac anomaly. Sinus of Valsalva aneurysm in this syndrome is extremely rare, only three previous reports, and of adult onset. An asymptomatic 9 and a half year boy with Down syndrome presented with ...

A 59-year-old woman presented with increasing breathlessness several weeks after right pneumonectomy. Imaging confirmed features of postpneumonectomy syndrome with marked mediastinal shift, and compression of the left main bronchus and pulmonary vein. The mediastinum was repositioned by insertion of saline-filled prostheses into the pneumonectomy space with symptomatic and radiologic improvement. ...

For more than three decades, topical cocaine has been used to confirm the diagnosis and hydroxyamphetamine to localise the causative lesion in oculosympathetic palsy or Horner's syndrome. More recently, other drugs have demonstrated the ability to point to the diagnosis or anatomical site. Apraclonidine and phenylephrine, given their similar diagnostic ...

Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We ...

We describe two previously healthy children who were hospitalized in the same period in different departments of our University with clinical signs of Kawasaki syndrome, which were treated with intravenous immunoglobulins and acetylsalicylic acid: in both cases, Coxsackie virus infection was concurrently demonstrated by enzyme-linked immunosorbent assay, and complement fixation ...

Aplastic anemia (AA) and myelodysplastic syndromes (MDS) are a heterogeneous group of rare hematological disorders belonging to the Bone Marrow Failure (BMF) syndromes. The Aplastic Anemia and Myelodysplastic Syndromes International Foundation (AA&MDSIF) is a non-profit organization dedicated to supporting patients and families living with a BMF disease. They work to ...

The discovery of hypogammaglobulinemia, which is defined as a plasmatic level of immunoglobulin (Ig) under 5g/L is rare in clinical practice. However, the management of immunodepressed patients in rheumatology, sometimes due to the use of immunosuppressive treatments such as anti-CD20 in chronic inflammatory rheumatisms, increases the risk of being confronted ...

Obesity hypoventilation syndrome describes the association between obesity and the development of chronic daytime alveolar hypoventilation. This syndrome arises from a complex interaction between sleep-disordered breathing, diminished respiratory drive, and obesity-related respiratory impairment, and is associated with significant morbidity and mortality. Therapy directed toward reversing these abnormalities leads to improved ...

The term mast cell activation syndrome (MCAS) is finding increasing use as a diagnosis for subjects who present with signs and symptoms involving the dermis, gastrointestinal track, and cardiovascular system frequently accompanied by neurologic complaints. Such patients often have undergone multiple extensive medical evaluations by different physicians in varied disciplines ...

The immune reconstitution syndrome (IRS) is an increasingly recognized disease concept and is observed with a broad-spectrum of immunosuppressive therapy-related opportunistic infectious diseases and severe drug eruptions complicated by viral reactivations. Clinical illness consistent with IRS includes tuberculosis, herpes zoster, herpes simples, cytomegalovirus infections and sarcoidosis: thus, the manifestations of ...

We describe a case of inadvertent intracranial placement of a nasotracheal tube in a patient with an undiagnosed major congenital cranial anomaly (a variant of Goldenhar syndrome, which included absence of the cribriform plate). We believe that this is the first reported case in which this complication arose as a ...

Larsen syndrome is a rare genetic disorder characterized by multiple dislocations of the large joints and characteristic craniofacial abnormalities. It exists in both a severe autosomal recessive form and a mild autosomal dominant variety. To date, only three authors have reported oral findings for this syndrome. This paper describes an ...

Acral mutilation syndrome (AMS) is a rare canine hereditary sensory neuropathy that results in progressive mutilation of the distal extremities and which has been reported only in German short-haired pointers, English pointers, English springer spaniels and French spaniels. The present report describes a case of AMS in an 18-month-old female ...