We report a patient with stiff-person syndrome and insulin-dependent diabetes mellitus with anti-glutamic acid decarboxylase (GAD) antibody, who suddenly complained of diplopia due to dysthyroid ophthalmopathy. Therapeutic efficacy of plasmapheresis and high-dose intravenous immunoglobulin was transient. After starting administration of rituximab, the patient showed obvious improvement of muscle spasms due ...

The clinical differences were evaluated in spinal hemangioblastoma between patients with sporadic disease and patients with von Hippel-Lindau (VHL) syndrome. The distribution of hemangioblastomas in the central nervous system was investigated in 56 patients treated between 1988 and 2008 at the University of Tokyo Hospital. The characteristics of spinal hemangioblastomas ...

We reviewed our deep brain stimulation patient database to describe hardware complications which resulted from implantable pulse generator mobility, a phenomenon referred to as twiddler's syndrome. A prospectively collected database of adverse events for all patients operated on at the University of Florida was queried searching for hardware malfunctions. Of ...

Based on the revised criteria of the American-European Consensus Group, we retrospectively established the diagnosis of primary or secondary Sjögren's syndrome for 202 patients referred to a Sjögren's syndrome clinic. Of these, 58 patients and 8 patients fulfilled criteria for primary and secondary Sjögren's syndrome, respectively. Of the 58 patients ...

BACKGROUND: Delusional misidentification syndrome (DMS) is of considerable interest, but rarely diagnosed clinically. It is supposed to occur relatively frequently in schizophrenia, and to be related to the pathophysiology of face processing. Two antagonistic forms of DMS are the hypoidentification (Capgras) and hyperidentification (Fregoli) syndromes. We aimed to highlight differences ...

We report a rare presentation of Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis. A 45-year-old male being treated with antitubercular therapy for tubercular panuveitis presented with unilateral, non-pitting right upper eyelid edema. Excision biopsy showed granulomatous inflammation involving the lymphatics. Immunohistochemistry confirmed the presence of histiocytes around the lymphatics.

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). All ...

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 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 ...

OBJECTIVE: Ollier disease (OD) and Maffucci syndrome are closely related, very rare syndromes, that are both associated with multiple sites of chondrodysplasia. They differ primarily with the additional association of Maffucci syndrome with vascular abnormalities, including hemangiomas. Both are associated with chondrosarcomas and other nonsarcomatous neoplasms (NSN), but Maffucci syndrome ...

A 75-year-old man presented with painful oral and groin ulcers. The lack of any infections and the location of the ulcers suggested Beh??et's disease. Subsequently, pancytopenia developed and bone marrow examination revealed myelodysplastic syndrome. Cytogenetic examination revealed 7q- and 20q- but not 8+. Immunosuppressive therapy with cyclosporine and corticosteroid resulted ...

Patients with Saethre-Chotzen syndrome have a heterogeneous phenotype. The purpose of this study was to use the genotypic diagnosis of the authors' series of patients with TWIST1-confirmed Saethre-Chotzen syndrome to describe their natural history and long-term surgical outcomes. A retrospective chart review was performed on patients treated at The Children's ...

We describe the successful anesthetic management of cesarean section in a patient with Eisenmenger's syndrome secondary to an atrial septal defect. Although conception is discouraged in women with Eisenmenger's syndrome, in inevitable circumstances, careful and meticulous planning of anesthesia can help the parturient survive the ordeal of a cesarean section. ...

OBJECT: Eagle syndrome is characterized by unilateral pain in the oropharynx, face, and earlobe, and is caused by an elongated styloid process or ossification of the stylohyoid ligament with associated compression of the glossopharyngeal nerve. The pain syndrome may be successfully treated with surgical intervention that involves resection of the ...

OBJECTIVE: To describe the clinical and laboratory features of macrophage activation syndrome as a complication of juvenile systemic lupus erythematosus (SLE). METHODS: Cases of juvenile SLE-associated macrophage activation syndrome were provided by investigators belonging to 3 pediatric rheumatology networks or were found in the literature. Patients who had evidence of ...

We describe a typical case of apical ballooning syndrome in an octogenarian female patient with left ventricular wall motion abnormality on electrocardiography, whose ventricular function returned to normal. The patient has allergic rhinitis and had used nasal decongestant excessively a few hours prior to the episode of pain.

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) is a syndrome of intermittent, brief, unilateral, severe paroxysms of orbital-temporal pain recurring multiple times per day. The pain modulation is often very difficult. The reported SUNCT patient is the first who responded to a combination treatment of oxcarbazepine ...

To investigate the expression of CXCL9, -10, -11, and CXCR3 in the tear film and ocular surface of patients with dry eye syndrome. Thirty-three patients with dry eye (16 with and 17 without Sjögren's syndrome) and 15 control subjects were recruited. The concentrations of CXCL9, -10, and -11 in tears ...

Objective: to compare cephalometric measurements of patients with and without velocardiofacial syndrome. Design: cross-sectional. Setting: public tertiary craniofacial center. Patients: lateral cephalograms of 18 patients with velocardiofacial syndrome and 18 controls without morphofunctional alterations, matched for gender and age; all cephalograms were obtained before orthodontic intervention. Main outcome measures: the ...

In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12 years. Five patients showed limb-girdle and facial weakness, three a floppy infant syndrome with bulbar ...

A 76-year-old female had suffered from distal arch aortic aneurysm and chronic DeBakey IIIB type dissecting aneurysm. The patient underwent thoracic endovascular aortic repair (TEVAR). After TEVAR the patient had a motor and proprioceptive loss on the left side and a pain and body temperature loss on the right side ...

OBJECTIVE: Minor salivary gland specimens were analyzed to investigate dysregulation of the proteasome system in patients with Sj??gren's syndrome (SS) and patients with sicca syndrome. METHODS: Labial biopsy specimens from 17 patients with SS and 11 patients with non-autoimmunesicca syndrome were analyzed by immunohistochemistry for expression of the inducible proteasomal ...

We describe a 26-year-old patient with long-standing autoimmune hypothyroidism. She was doing well until she developed Addisonian crisis accompanied by severe metabolic acidosis, hypoglycemia, hypomagnesemia, and hypokalemia. Subsequently she developed a life-threatening cardiac arrhythmia due to QT prolongation secondary to electrolyte imbalance. The association of autoimmune hypothyroidism and adrenal insufficiency ...

Endometriosis in Rokitansky-Kuster-Hauser syndrome has been reported only once previously. We present here a case of endometrioma in a patient with Rokitansky-Kuster-Hauser syndrome. A 26-year-old patient with Rokitansky-Kuster-Hauser syndrome presented with abrupt pain in the left iliac quadrant. A mass was confirmed by sonography. Laparoscopic inspection revealed no uterus. The ...

The anti-tumor necrosis factor (TNF)alpha medications demonstrate efficacy in the induction of remission and its maintenance in numerous chronic inflammatory conditions. With the increasing number of patients receiving anti-TNFalpha agents, however, less common adverse reactions will occur. Cutaneous eruptions complicating treatment with an anti-TNFalpha agent are not uncommon, occurring in ...

Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human disorders and cancers. The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two ...

Patients with chromosome 22q11 deletion syndrome exhibit significant phenotypic variability. Epidemiologic data suggest a higher incidence in Hispanics, but limited clinical information is available from Latin-American patients. We describe the clinical features of Chilean patients with 22q11 deletion syndrome and compare their findings with those reported in large European, Japanese ...

A patient with cancer undergoing chemotherapy via Portacath presented with severe progressive dysphagia and dysphonia. Unilateral paresis of the 9, 10, 11, and 12th cranial nerves was found (Collet-Sicard's syndrome or Villaret's syndrome), associated with ipsilateral jugular vein thrombosis identified by imaging. The use of central venous catheters is increasing, ...

Cushing's syndrome is a pathological condition associated with excessive cortisol production, the commonest etiology being Cushing's disease. Corticosteroids in high doses have been used in the management of Steven Johnson Syndrome (SJS) with favourable outcome. We describe a patient with Cushing's disease who developed SJS, one week after taking sperulina ...

A total of 60 patients aged 6-16 years with tics and Tourette's syndrome were studied. Antibodies to caudate nucleus proteins were assayed by western blot hybridization. Ten patients with Tourette's syndrome were found to have antibodies to caudate nucleus protein. Seven patients with neuroleptic-resistant types of Tourette's syndrome received single ...

PURPOSE: To study the neuroanatomic characteristics of patients with Duane's retraction syndrome with high-resolution magnetic resonance imaging. METHODS: The study included 11 consecutive cases, including five patients with type I, one patient with type II, four patients with type III, and one patient with inverse Duane's retraction syndrome. The patients ...

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 ...

This study examines factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome. The study population comprised 98 patients diagnosed with West syndrome and monitored for at least 3 years. During follow-up, West syndrome evolved to Lennox-Gastaut syndrome in 48 of the 98 patients. Etiology analysis indicated that West syndrome ...

Melioidosis is an emerging infectious disease in our country. It is an important cause of community-acquired 'sepsis syndrome' particularly in patients with underlying immunosuppression which often goes undetected due to lack of awareness resulting in high fatalities. Here we report a case of septicaemic melioidosis in a diabetic patient.

We describe a 14-year-old girl with hyperimmunoglobulin E (Job) syndrome who presented with fatigue, abdominal pain, fever, and weight loss. Endoscopic examination of the terminal ileum revealed ulceration, edema, and erythema. Histopathologic findings of the terminal ileum demonstrated intracellular yeast forms compatible with Histoplasma capsulatum. The patient was treated with ...

Immune reconstitution inflammatory syndrome (IRIS) after HAART may become manifest in form of aseptic severe leucoencephalopathy. All HIV-1-positive patients in this case series had widespread laboratory tests and follow-up MRI in order to investigate the course and the underlying pathophysiology of IRIS-associated leucoencephalopathy. All patients were treated with corticosteroids, in ...

The occurrence of infective aortic pseudoaneurysms tends to be intractable and difficult to treat. We experienced a very rare case of a recurrent infective pseudoaneurysm in the ascending aorta that occurred after cardiac surgery in an atomic bomb survivor with myelodysplastic syndrome. The pseudoaneurysm was successfully repaired using a femoral ...

Both Sjögren's syndrome (SS) and non-Sjögren's syndrome (NSS) can present with the sicca symptoms of dry eyes and a dry mouth but they are distinct pathological entities that require diagnostic discrimination. This study included 82 sicca syndrome patients and examined the ability of sialoscintigraphy and antibodies against the autoantigens alpha-fodrin, ...

BACKGROUND & AIMS: Patients with Budd-Chiari syndrome can present with acute, subacute, or chronic disease; the definitions and significance of these variants have been disputed. An increased level of serum alanine aminotransferase (ALT) is an objective marker for acute liver injury. We analyzed the significance of changes in ALT levels ...

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 nerve palsy) ...

BACKGROUND: The diagnosis of myelodysplastic syndromes is not always straightforward when patients lack specific diagnostic markers, such as blast excess, karyotype abnormality, and ringed sideroblasts. DESIGN AND METHODS: We designed a flow cytometry protocol applicable in many laboratories and verified its diagnostic utility in patients without those diagnostic markers. The ...

The Kearns-Sayre syndrome is a rare condition characterized by external ophthalmoplegia, retinal pigmentary degeneration and progressive impairment of cardiac conduction. We report a patient with the permanent pacemaker. The spontaneous cardiac impulse formation disappeared during long-term follow-up in this patient with Kearns-Sayre Syndrome.

PURPOSE: To evaluate the rate of Sjögren syndrome (SS) in a cohort of patients with dry eye syndrome. METHODS: Medical records of patients with a primary diagnosis of dry eye syndrome (International Classification of Diseases [ICD] code 375.15 or 370.33) were reviewed retrospectively. Patients who had 2 or more visits ...

There are limited data in the literature on the performance of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) treatment in patients with Klinefelter syndrome. The current study compared TESE-ICSI treatment in patients with non-mosaic Klinefelter syndrome with controls having non-obstructive azoospermia and normal karyotype. Thirty-three consecutive patients (39 ...

OBJECTIVE: Genetic syndromes occur in more than 20% of patients with conotruncal heart defects. We investigated the impact of genetic syndromes on the surgical outcome of conotruncal anomalies in infancy. METHODS: This retrospective study reviews the outcome of 787 patients (median age 6.3 months) who underwent primary (598) or staged ...

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 ...

Low-T3 syndrome is highly prevalent and independently prognostic in cardiovascular patients. The relationship and prognostic impact with the cardiac marker NT-pro-BNP have not been thoroughly investigated. Thyroid hormone levels and NT-pro-BNP were assessed in 615 consecutive patients hospitalized for cardiovascular disease. Patients with primary overt or latent thyroid disorder, hormone ...

BACKGROUND: Tilted disc syndrome is a congenital anomaly characterized by an inferonasal "tilting" of the optic disc. We report three patients affected by macular neovascularisation-complicated tilted disk syndrome treated by intravitreal bevacizumab. METHODS: Three interventional case reports are hereby documented. Ophthalmic evaluations were registered, including monthly visual acuity examination, OCT ...

We describe a combination case of Down's syndrome and Cardiac Tamponade with Pulmonary Tuberculosis in an adult patient.

A 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. The ...