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Ginory Almari - - 2013
Drug reaction with eosinophilia and systemic symptoms (DRESS) is a hypersensitivity syndrome most commonly associated with antiepileptic agents, allopurinol, and sulfonamides. It is a severe adverse reaction associated with fever, rash, eosinophilia, lymphadenopathy, and internal organ involvement. We present the case of a 17-year-old Caucasian female with bipolar disorder type ...
Czepielewski Letícia - - 2013
Summarize data on metabolic syndrome (MS) in bipolar disorder (BD). A systematic review of the literature was conducted using the Medline, Embase and PsycInfo databases, using the keywords "metabolic syndrome", "insulin resistance" and "metabolic X syndrome" and cross-referencing them with "bipolar disorder" or "mania". The following types of publications were ...
Vancampfort Davy - - 2013
Patients with bipolar disorder have high levels of cardiovascular disease risk factors. The presence of metabolic syndrome significantly influences future cardiovascular disease morbidity and mortality. The authors sought to clarify the prevalence and moderators of metabolic syndrome in bipolar patients, accounting for subgroup differences. The authors searched MEDLINE, PsycINFO, EMBASE, ...
Ahmed Rebekah M RM Department of Neurology, Royal Prince Alfred Hospital, Sydney, - - 2013
We describe 2 patients with inexorably progressive pseudotumor syndrome (intracranial hypertension without mass lesion or ventriculomegaly) both initially misdiagnosed as having idiopathic intracranial hypertension and who were eventually found to have spinal leptomeningeal lymphoma. Neither had, at any time, any clinical signs of a spinal cord or root lesion. We ...
Jacobowski Natalie L - - 2013
Delirious mania is a severe but under-recognized neuropsychiatric syndrome characterized by the rapid onset of delirium, mania, and psychosis, not associated with a prior toxicity, physical illness, or mental disorder. Catatonia is often a prominent feature of the syndrome. While initially believed to be rare, recent reports suggest that delirious ...
Verhoeven Willem M A - - 2012
Phelan-McDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data about adult patients are virtually absent. The expression of its phenotypical characteristics ...
Yamamoto Asako - - 2012
Proteus syndrome is a rare, sporadic, hamartomatous disorder manifesting with multifocal overgrowth of tissue. The features seem to develop most often during childhood. Vertebral overgrowth with severe spinal canal stenosis is unusual, although scoliosis with abnormal vertebral bodies is one of the typical features of Proteus syndrome. We report a ...
Linfante Italo - - 2012
Cutaneomeningospinal angiomatosis, or Cobb syndrome, is a rare metameric developmental disorder presenting as an extradural-intradural vascular malformation that involves bone, muscle, skin, spinal cord, and nerve roots. A 14-year-old girl with a red nevus involving the T6-9 dermatomes on the left side of her back presented with a 5-year history ...
Lin Hung-Sheng - - 2011
Cheiro-oral syndrome (COS) is an established neurological entity characterized by a sensory impairment confined to the mouth angle and ipsilateral finger(s)/ hand. The current understanding of localization is a concomitant involvement of the spinothalamic and trigeminothalamic tract between the cortex and pons. The cervical spinal cord has not been mentioned ...
Son Dong Wuk - - 2011
There have been very few reports in the literature of Guillain-Barré syndrome (GBS) after spinal surgery. We present a unique case of GBS following spinal fusion for thoracic vertebral fracture. The aim of this report is to illustrate the importance of early neurological assessment and determining the exact cause of ...
Moriya Arata - - 2011
We have reported two patients with posterior spinal artery syndrome. Both of them had sudden onset back pain, paraparesis, loss of deep sensation and bladder-bowel disturbances. MRI disclosed spinal cord lesions positioned at its posterior part including the posterior column or posterior horn at thoracic levels. Spinal artery syndrome is ...
Radcliff Kristen E - - 2011
BACKGROUND CONTEXT: Injuries to the thoracolumbar spine may lead to a complex array of clinical syndromes that result from dysfunction of the anterior motor units, lumbosacral nerve roots, and/or spinal cord. Neurologic dysfunction may manifest in the lower extremities as loss of fine and gross motor function, touch, pain, temperature, ...
Herrera Alex F - - 2011
Diarrhea is a frequent complication of hematopoietic stem-cell transplantation (HSCT). Important causes of diarrhea after HSCT include acute graft-versus-host disease (GVHD), infections, and medications. After the transplantation and engraftment of hematopoietic stem cells from umbilical-cord blood, we observed a new syndrome of culture-negative, antibiotic-responsive diarrhea not attributable to any known ...
Pastorczak Agata - - 2011
Central nervous system (CNS) involvement is an independent risk factor for poor event-free survival and relapse confined to the CNS. Knock-out mice deprived of RAG2, the protein involved in DNA repair, developed leukemic infiltration within leptomeninges. Therefore, we hypothesized that DNA repair deficiencies in humans, such as Nijmegen breakage syndrome ...
Harned Michael E - - 2011
Spinal anesthesia has been a safe and popular anesthetic option for patients undergoing outpatient surgical procedures of the trunk and lower extremities. Occasionally, after a spinal anesthetic, patients can develop moderate-to-severe pain in the back, hips, and legs without neurologic deficit. They will often present to the emergency department with ...
Sethi Divya - - 2011
A 14-year-old boy underwent emergency debridement surgery of right foot under spinal anaesthesia. Four hours after the surgery, the patient developed symptoms of cauda equina syndrome (CES). Postoperative magnetic resonance imaging of the patient's spine suggested underlying tubercular arachnoiditis. The boy was started on intravenous methylprednisolone and antitubercular therapy. He ...
Kumar Ajay - - 2011
Carbamazepine and other anticonvulsants are commoner cause of severe adverse cutaneous drug reactions such as erythema multiforme, toxic epidermal necrolysis (TEN), and Stevens-Johnson syndrome (SJS). We report a case of SJS rapidly progressing to TEN with a combination of haloperidol and carbamazepine in a patient with bipolar affective disorder. The ...
Liu C-C - - 2011
Cauda equina syndrome (CES) is a rare manifestation in patients with long-standing ankylosing spondylitis (AS). We report a 57-year-old male patient with a 30-year history of AS who developed CES in the past 4 years. The CT and MRI examinations showed unique appearances of dural ectasia, multiple dorsal dural diverticula, ...
Nakata Makoto - - 2011
A 28-month-old African hedgehog was referred to our hospital with progressive tetraparesis. On the first presentation, the hedgehog was suspected as having wobbly hedgehog syndrome (WHS) and the animal was treated with medication and rehabilitation. The animal died 22 days after onset. Pathological examination revealed that the animal was involved ...
Wong Sau Wei - - 2011
Sturge-Weber syndrome is a neurocutaneous syndrome characterised by facial port wine stain, ipsilateral leptomeningeal angioma and vascular eye abnormalities. We report a rare case of Sturge-Weber syndrome without facial nevus presenting with neonatal seizures.
Fenske Wiebke - - 2011
Background: The water deprivation test (WDT) with direct or indirect measurement of plasma arginine vasopressin (AVP) is the method of choice for the differential diagnosis of the polydipsia-polyuria syndrome. In theory, direct measurement of AVP is highly attractive but is hampered by technical difficulties. Objective: The aim of the study ...
Kaballo Mohammed A - - 2011
Intramedullary spinal cord metastasis is very rare. The majority are discovered incidentally during autopsy. Most symptomatic patients present with rapidly progressive neurological deficits and require immediate examination. Few patients demonstrate features of Brown-Séquard syndrome. Radiotherapy is the gold-standard of therapy for Intramedullary spinal cord metastasis. The overall prognosis is poor ...
Larciprete Giovanni - - 2011
We describe an extreme case of amniotic band syndrome, presented with fetal stress during labor and associated with strangulation of umbilical cord.
Liu Yang - - 2011
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility. Surgical treatment of scoliosis associated with Ehlers-Danlos syndrome poses a challenge to spine surgeons because of the high risk of major complications. There is a paucity ...
Aktoz Meryem - - 2011
We report the case of a 55-year-old man who presented with acute coronary syndrome due to coronary slow flow after spinal cord injury. Data regarding the causes and clinical manifestations of coronary slow flow are inconclusive, but the autonomic nervous system is believed to be at least a contributing factor. ...
Cai Hong-Xin - - 2011
Spontaneous spinal epidural hematoma (SSEH) is an uncommon clinical entity. It produces a severe neurological deficit and prompt decompression is usually the first choice of treatment. Brown-Séquard syndrome is commonly seen in the setting of spinal trauma or an extramedullary spinal neoplasm, but rarely caused by SSEH. Case report and ...
Niclauss Lars - - 2010
Acute massive pulmonary embolism (PE) is a life-threatening event. Before the era of cardiopulmonary bypass, acute pulmonary embolectomy had been historically attempted in patients with severe hemodynamic compromise. The Klippel-Trenaunay syndrome (KTS) represents a significant life-long risk for major thromboembolic events. We present two young patients with Klippel-Trenaunay syndrome who ...
Taira Takaomi - - 2010
Intrathecal baclofen therapy (ITB) is a surgical treatment of spasticity by administrating small amount of baclofen directly into the spinal intrathecal space. This has been developed over the past twenty years, and now it is a well-established procedure. Indication of ITB is otherwise intractable severe spasticity of cerebral or spinal ...
Stephens Daniel - - 2010
We describe a case of a 3-year-old girl with Klippel-Trenaunay syndrome who presented with an enlarging abdominal mass caused by a serous borderline tumor of the fallopian tube. This case is notable for the rarity of this neoplasm in a premenarchal patient as well as the association with this syndrome. ...
Tepeler Abdulkadir - - 2011
Klippel-Trenaunay syndrome (KTS) is characterized by a triad of cutaneous port-wine capillary malformations, hemihypertrophy, and varicose veins. Intermittent gross painless hematuria is usually the first clinical sign. An 8-year-old boy with multiple hemangiomas, including glans penis, and associated with KTS presented with urethral bleeding. Radiologic and endoscopic evaluation revealed neither ...
Puttgen Katherine B - - 2010
There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery ...
Janson Marcos - - 2010
We describe the orthodontic treatment of a patient with Klippel-Trenaunay-Weber syndrome (KTWS) who received orthodontic treatment that included rapid palatal expansion and orthognathic surgery. There is no report in the literature with this orthodontic treatment protocol, that was considered successful. The pros and cons of this approach as well as ...
Boutarbouch Mahjouba - - 2010
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare syndrome in which patients harbor cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. The clinical presentation of this syndrome is variable and the etiopathogenesis is presumably genetic in view of recent discoveries of RASA1 gene mutations in KTWS patients. Similarly, ...
Finklea Lindsey B - - 2010
We present two rare cases of phacomatosis pigmentovascularis type IIb, with one patient demonstrating concurrent Sturge-Weber syndrome and Klippel-Trenaunay syndrome. To the best of our knowledge, this is the second infantile case meeting diagnostic criteria for systemic phacomatosis pigmentovascularis type IIb, Sturge-Weber syndrome and Klippel-Trenaunay syndrome in the English language ...
Suskauer Stacy J - - 2010
Sturge-Weber syndrome is a rare neurocutaneous disorder that often results in functional impairment caused by motor (typically hemiparesis) and cognitive deficits. A retrospective chart review of physiatric evaluation of 30 individuals, aged 4 mos to 55 yrs (median age, 2.4 yrs), with Sturge-Weber syndrome with brain involvement was conducted for ...
Dhir Luna - - 2010
Klippel-Trénaunay-Weber syndrome is characterized by the triad of capillary malformations (usually port-wine stains), varicose veins or venous malformations of unusual distribution, and soft-tissue or bony hypertrophy of an extremity. The syndrome can be diagnosed on the basis of 2 of these 3 features. In the atypical form of the syndrome, ...
Herman J - - 2010
Klippel-Trénaunay syndrome (KTS) is a rare, sporadic, congenital vascular disease of unknown aetiology. KTS could be associated with infliction of other regions. An association with great saphenous vein aplasia has never been described.
Holak Elena J - - 2010
Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of capillary or cavernous hemangiomas, venous varicosities or malformations, and soft tissue or bone hypertrophy. Neuraxial anesthesia in patients with Klippel-Trénaunay syndrome has been infrequently described and has not been previously reported when accompanied by consumptive coagulopathy with thrombocytopenia (Kasabach-Merritt ...
Beier Ulf H - - 2010
Vascular malformation is associated with coagulopathies, especially when hemostasis is challenged. We present the case of an 11-year-old Hispanic girl with Klippel-Trenaunay-Weber syndrome that developed disseminated intravascular coagulation after minor surgery, which was controlled by blood product transfusions and enoxaparin to address an ongoing consumptive coagulopathy. The patient, however, developed ...
Ozdemir Hakan - - 2010
OBJECTIVE: Klippel-Trénaunay syndrome (KTS) is characterized by triad of venous varicosity, naevus flammeus, and soft/hard tissue hypertrophy. Manifestations of the syndrome in the head and neck region are rare, but in some cases hemangioma of the lips, tongue, and gums, open bite and cross bite, and early tooth eruption are ...
Simas Angela - - 2010
We present a rare case of Stewart-Treves syndrome characterized by a diffuse angiosarcoma of the leg in a 22-year-old man with a history of chronic lymphedema due to Klippel-Trénaunay-Weber syndrome. He underwent limb disarticulation and medical treatment with cycles of doxorubicin, oral thalidomide and sunitinib with a very good response ...
Zabel T Andrew - - 2010
Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder involving facial capillary malformation (port-wine birthmark) and vascular malformation of the brain that is frequently associated with epilepsy, stroke-like episodes, cognitive deficits, motor impairment, and/or visual field cut. The four cases presented here (ages 8-9, two females) illustrate the broad range of ...
Cohen M Michael MM - - 2010
Certain terms used in medical genetics and more often in other medical fields are in need of clarification. The terms cited are frequently misunderstood, mispronounced, and/or misspelled. The discussion includes two Latin-derived terms (genua valga and calvaria), one Greek-derived term (apoptosis), one gene-derived term (RUNX), one syndromic eponym (Kartagener syndrome), ...
Pereira de Godoy José Maria - - 2010
This case report shows a genealogical study where a woman has limb hypertrophy and her son has an association of Sturge-Weber syndrome with Klippel-Trenaunay-Weber syndrome. The Sturge-Weber and Klippel-Trenaunay-Weber syndromes appear to be different manifestations of the same affliction. Familial aggregation exists and transmission may be almost imperceptible between generations. ...
Al-Ani Sami A - - 2009
A patient with Klippel-Feil syndrome, which was associated with Pierre Robin sequence, bilateral mandibular duplication, and occipital clefts, is described. The management, surgery, and possible etiology are discussed in relation to the relevant literature.
Rasheed Rashid - - 2009
Klippel-Trenaunay Syndrome (KTS) is a rare, congenital, vascular disorder affecting one or more limbs. Originally, it was defined as a triad including port wine stain, varicose veins and bony and soft tissue hypertrophy. We present a case of a 20-year-old female who walked with a limp. Because of swelling of ...
Shimakawa Shuichi - - 2010
We report a patient with Sturge-Weber Syndrome (SWS) who developed migraine-like headaches followed by cerebral infarction. SWS without facial nevus was diagnosed based on calcification detected by CT and pial angioma detected by enhanced MRI. His migraine-like headaches were preceded by left homonymous hemianopsia, which persisted for more than 60 ...
Rotholtz Nicolas - - 2009
Klippel-Trénaunay syndrome is a rare congenital vascular disorder characterized by varicose veins, hypertrophy of the soft tissues and bones, and hemangiomas. Although colorectal angiomatosis is uncommon, this association can lead to life-threatening complications because of acute or chronic bleeding. We report a patient with Klippel-Trénaunay syndrome who presented with transfusion-dependent ...
Freilinger Tobias - - 2009
Hemiplegic migraine (HM) in the setting of Sturge-Weber syndrome (SWS) has been previously described. Here, we report clinical and multimodal imaging data on a 21-year-old man with SWS and HM, who presented during an acute HM attack with a dense left-hemispheric syndrome (expressive aphasia and right sensorimotor hemiplegia), lasting for ...
Schreiber Adam L - - 2009
Objective. To report a case of improved urodynamics in a central cord syndrome spinal cord injury after intrathecal baclofen therapy. Methods. A 47-year-old man fell resulting in C4-C5 disc herniation with ventral spinal cord compression and cord edema. Results. He underwent an anterior cervical discectomy and fusion. Postoperatively, his examination revealed a C4 ...
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