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Results 251 - 300 of 557
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Lee H - - 2001
The Sturge-Weber syndrome consists of a unilateral port-wine hemangioma of the skin along the trigeminal distribution and is accompanied by an ipsilateral leptomeningeal angioma. Glaucoma is present in approximately half of the cases. The Nevus of Ota is a melanocytic pigmentary disorder, most commonly involving the area innervated by the ...
Sharma M S - - 2001
A posterior fossa dermoid cyst in association with the Klippel-Feil syndrome, in a 4 year old child is reported. Early diagnosis to prevent complications like neural compression, cyst rupture and staphylococcal meningitis justifies investigation for posterior fossa dermoids in cases of Klippel-Feil syndrome. Their embryological basis is discussed.
Mueller-Lessmann V - - 2001
The Klippel-Trénaunay syndrome is a triad of congenital anomalies characterised by haemangiomas, varicosities, and unilateral bony and soft tissue hypertrophy. Hypertrophy usually affects one distal limb, but trunk or face may be affected. Cutaneous haemangiomas (nevus flammeus) of varying extent and irregular contour are often present in the hypertrophic regions. ...
Pangkanon S - - 2001
Proteus syndrome is a rare genetic disorder, characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, multiple hamartomatous subcutaneous tumors, hyperostoses, and long bone overgrowth. A one day old Thai male infant is reported with macrosomia, hemihypertrophy of the left side of the face ...
Yacubian E M - - 2001
A 3-year-old boy with segmental vitiligo, poliosis, and alopecia over the right side of the scalp developed epilepsia partialis continua involving the left side of the body and progressive atrophy of the right cerebral hemisphere. There was a right ear dysacusia and a perilimbal vitiligo associated with an area of ...
Imtiaz K E - - 2001
A case of alexia without agraphia is presented. It is a rare but classic disconnection syndrome, first described by Dejerine in 1892. Recent advances in modern neuroimaging techniques such as FLAIR MRI can now localise in vivo the site of origin of the syndrome, especially when computerised axial tomogram of ...
Martin W L - - 2001
The diagnosis of the Klippel-Trenaunay-Weber (KTW) syndrome is rarely made antenatally. We report the use of both ultrasound and in utero magnetic resonance imaging (MRI) in the prenatal diagnosis of this syndrome. This is the first report of the use of prenatal MRI in the diagnosis of this condition. There ...
Arguedas M R - - 2001
We present two cases of hemangiomatosis of the gastrointestinal tract. The first case describes a 59-year-old patient with upper gastrointestinal hemorrhage due to the blue rubber bleb nevus syndrome. The second case illustrates a 26-year-old patient with recurrent rectal bleeding due to Klippel-Trenaunay syndrome. These two syndromes are distinct disorders ...
Dhamecha R D - - 2001
There are many documented cases of Klippel-Trenaunay-Weber syndrome characterized by the triad of port wine stain, varicose veins, and hypertrophy of bones and overlying tissue. A few cases have even included the additional findings of hemimegalencephaly. We report a case of Klippel-Trenaunay-Weber syndrome with hemimegalencephaly and calvarial hypertrophy, but no ...
O'Connor P J - - 2001
General anesthesia is best avoided in cases of Klippel-Feil syndrome where tracheal intubation is potentially difficult. The syndrome features severe abnormalities of the neck and upper thoracic spine, which may also lead to difficulties with neuraxial blockade. We describe the use of epidural anesthesia for bilateral reduction mammoplasty in a ...
Guzey M - - 2001
PURPOSE: The objective of the present investigation was to define the indocyanine green (ICG) angiographic features of angioid streaks (AS) in young patients with Grönblad-Strandberg syndrome and to compare them with findings on fluorescein angiography (FA) and red-free photographs. METHODS: Complete ophthalmological examination, red-free photography, FA and ICG angiography were ...
Nagashima H - - 2001
We report the case of a 42-year-old woman with Klippel-Feil syndrome, who showed severe hypermobility of the upper cervical spine without neurological involvement for more than 40 years. Radiographs revealed the presence of the odontoid bone and fusion of the atlas, odontoid bone, and occiput. Congenital fusion was present from ...
Allsopp G M - - 2001
Klippel-Feil syndrome is characterized by a variable degree of congenital fusion of the cervical spine. It can exist in association with other mesodermal deformities affecting several systems. Symptomatic cervical disc prolapse in the context of the syndrome is well documented in young adults. We present a case of a 5-year-old ...
Aksoy F G - - 2001
We present the second case of Klippel-Feil syndrome in association with a posterior fossa dermoid cyst extending through the occipital bone and presenting as a suboccipital subcutaneous mass. We describe its radiographic, CT, and MRI appearances as well as on MRI diffusion-weighted images. Posterior cranial fossa dermoid cysts and sinuses ...
De Blasi R - - 2000
The Klippel-Trenaunay syndrome (KTS) is a congenital disorder resulting from a mesodermal abnormality, characterised by cutaneous capillary haemangiomas, hypertrophy of bone and soft tissues and varicose veins. The presence of intracranial aneurysms has rarely been described, while oesophageal duplication has not been reported previously. We describe a patient with the ...
Reidy J - - 2000
Kartagener's syndrome is a hereditary syndrome involving a combination of dextrocardia (situs inversus), bronchiectasis and sinusitis, transmitted as an autosomal recessive trait. We describe a patient who had three anaesthetics over a period of a few months. Discussion relates to anaesthetic considerations in the syndrome and to recent findings relating ...
Winik B C - - 2000
In the present work we report the histopathological features of the cerebriform plantar hyperplasia observed in two patients with a mild form of the Proteus syndrome. Light microscopy revealed increased fibro-adipose tissue and adnexal structures in the dermis. Ultrastructurally, densely packed collagen fibrils variable in diameter and configuration, described as ...
Packwood E A - - 2000
Diffuse choroidal hemangioma is a congenital vascular hamartoma often associated with hemangiomatous lesions of the brain, orbit, and periocular skin (nevus flammeus) in the Sturge-Weber syndrome. Visual loss from diffuse choroidal hemangioma may result from chronic serous retinal detachments causing retinal pigment epithelial, photoreceptor or cystoid degeneration, and glaucomatous optic ...
Ceyhan A - - 2000
A 4-month-old boy with Proteus syndrome underwent a successful operation for a left abdominal mass due to hydroureter and hydronephrosis with left ureterovesical stenosis. The operation lasted 4.5 h under general anaesthesia; there were no anaesthetic complications. There is only one previous report on anaesthesia in a patient with Proteus ...
Thomsen M - - 2000
We reviewed data from 57 patients (40 women) with Klippel-Feil syndrome to identify and characterize limb deficiencies. The cervical synostosis was classified according to the description of Feil (1919). Limb deficiencies were classified according to Henkel et al. (1978) and compared with the sclerotome theory of McCredie and Willert (1999). ...
Minagar A - - 2000
A patient with advanced AIDS presented with right conjugate gaze palsy and impaired adduction on left gaze (the one-and-a-half syndrome). The responsible pontine lesion involved the ipsilateral abducens nucleus and the adjacent medial longitudinal fasiculus (MLF), as demonstrated by magnetic resonance imaging (MRI). Tuberculosis (TB) was the etiology of the ...
Amirikia A - - 2000
PURPOSE: To report bilateral choroidal hemangiomas associated with unilateral facial nevus flammeus in Sturge-Weber syndrome. METHODS: Case report. RESULTS: A 6-year-old male with a left facial nevus flammeus and a history of a left cerebral angioma had been followed 2 years for increasing esotropia. Examination demonstrated bilateral diffuse choroidal hemangiomas ...
Wen F - - 2000
PURPOSE: To analyze indocyanine green angiography (ICGA) features in one case of diffuse choroidal hemangioma associated with Sturge-Weber syndrome. METHODS: Color fundus photography, fluorescein angiography (FA) and ICGA were performed in a patient with diffuse choroidal hemangioma associated with Sturge-Weber syndrome. RESULTS: The diffuse choroidal hemangioma was not identified by ...
Castillo L C - - 2000
Cerebellar symptoms at onset are unusual in HTLV-I/II-associated tropical spastic paraparesis (TSP). A prospective study of neurological disorders in Panama (1985-1990) revealed 13 patients with TSP and 3 with HTLV-I/II-associated spinocerebellar syndrome (HSCS) presenting at onset loss of balance, wide-based stance and gait, truncal instability, and mild leg ataxia (vermian ...
Wiest G - - 2000
The supranuclear pathways for vergence eye movements are poorly understood. The authors report a 57-year-old patient who presented with selective loss of vergence control and dissociation of light and near reaction. MRI showed a symmetric paramedian thalamic infarction without midbrain lesion. The findings suggest that this syndrome is due to ...
Walder B - - 2000
Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by a triad of cutaneous vascular nevi, soft tissue or bony hypertrophy, and varicose veins or venous malformations involving one or more extremities. An incidence of venous thromboembolism of up to 22% has been reported in this disorder. Also reported is the ...
Kato M - - 2000
A case of endoscopic neodymium:yttrium aluminium garnet (Nd:YAG) laser coagulation of a bladder hemangioma associated with Klippel-Weber syndrome is presented. The patient presented with extensive nevus and swelling of the left lower limb since birth. She was diagnosed with Klippel-Weber syndrome by angiography at the age of 1 year. Gross ...
Nousari H C - - 2000
Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder causing erythrokeratoderma, vascularizing keratitis, and neurosensory deafness. Ichthyosis hystrix is a rare cutaneous disease characterized by well-demarcated, spiky, verrucous, linear plaques that is believed to be a clinical and pathologic chimera of two autosomal dominant diseases: epidermal nevus and epidermolytic hyperkeratosis. We ...
Sadda S R - - 2000
Visual loss in patients with encephalotrigeminal angiomatosis or Sturge-Weber syndrome usually results from secondary glaucoma or from damage to the retrogeniculate pathways by the angiomatous lesions. Optic neuropathy has not been reported as a component of this syndrome. This report describes a patient who developed bilateral optic neuropathy with progressive ...
van Emelen C - - 2000
BACKGROUND: Sturge-Weber syndrome is a rare congenital neuro-oculocutaneous disorder. Ocular involvement can include glaucoma and vascular malformations of the conjunctiva, episclera, choroid, and retina. METHODS: The records of 19 Sturge-Weber syndrome patients (mean age 8.2 years) treated at our institution were reviewed to determine the incidence of ophthalmologic manifestations in ...
Castilla-Guerra L - - 2000
A case of Sturge-Weber syndrome (SWS) with gastrointestinal hemorrhage is presented. SWS is a neurocutaneous disorder characterized by cutaneous facial angioma leptomeningeal angioma with seizures and other neurologic complications. Associated anomalies beyond the encephalofacial territory are very rare. The patient presented repeated bleeds from extensive gastric varices of the fundus ...
Shekarriz B - - 2000
Although hematuria has been reported in children with Klippel-Trenaunay syndrome, it is a rare presentation in the adult population. Two cases of massive hematuria in adults with Klippel-Trenaunay syndrome are reported here. A unique feature was venous malformations of the bladder which were responsible for massive recurrent bleeding in 1 ...
Ozdiler E - - 2000
A female eight year, one month old patient with Klippel-Feil syndrome has been introduced. General appearance of the patient was characterized by short neck with limited head movements, craniofacial asymmetry, low posterior hairline and a short stature. Cephalometric analysis revealed a Class I dentoskeletal pattern with an excessive mandibular plane ...
Suzuki H - - 1999
EMO syndrome, a rare complication of Graves' disease, exhibits exophthalmos, pretibial myxedema, and osteoarthropathy. The presence of functional thyrotropin receptors (TSHR) in adipocytes and osteoblasts, both of which we have recently observed, may be related to these extrathyroidal manifestations of Graves' disease. In addition, the expression of TSHR in the ...
Tester K - - 1999
This paper seeks to refute Alasdair MacIntyre's contention that the sociology of Max Weber is emotivist. MacIntyre understands emotivism to involve the collapse of all moral judgment into statements of personal preference. It is shown that Weber's sociology analyses this condition and seeks to repudiate it. In no way does ...
Bourcier T - - 1999
PURPOSE: To investigate sclerochoroidal calcification in a patient with Gitelman syndrome. METHOD: Case report. Bilateral fundus abnormalities observed in a 58-year-old woman were documented with fluorescein angiography and tomodensitometry. RESULTS: Symmetric yellow-white subretinal lesions were observed in the superotemporal midperiphery of the fundus of each eye. Tomodensitometry examination was consistent ...
Thong M K - - 1999
Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed ...
Othmane I S - - 1999
PURPOSE: To describe exacerbation during pregnancy of cerebellar hemangioblastoma in von Hippel-Lindau syndrome. METHOD: Case-report. A 21-year-old woman with von Hippel-Lindau syndrome was found on routine ocular examination to have severe papilledema 1 week after giving birth. RESULTS: Immediate magnetic resonance imaging disclosed a large cerebellar cyst from hemangioblastoma causing ...
Happle R - - 1999
A 7-year-old boy had partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of Proteus syndrome. Paradoxically, however, he had only few and rather mild lesions of disproportionate overgrowth. This unusual case is taken ...
Gianlupi A - - 1999
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare, congenital disorder characterized by the triad of varicose veins, cutaneous hemangiomas, and hypertrophy of soft tissue and bone. We present the case of a woman with KTWS, cor pulmonale, and death due to recurrent pulmonary embolism (PE). The risk of deep venous thrombosis and ...
Roberts R V - - 1999
A case of prenatal Klippel Trenaunay-Weber syndrome is presented, with a description of the sonographically observed disease progression in utero. The appearance of a complex thoracic multicystic mass in association with progressive unilateral lower limb enlargement was strongly suspicious of this disorder. Colour-flow Doppler studies of the cutaneous haemangiomata in ...
Mandal A K - - 1999
The Sturge-Weber syndrome consists of unilateral port-wine haemangioma of the face which may be associated with an ipsilateral intracranial haemangioma and choroidal angioma. The common derivation of the meningeal, choroidal and facial vessels may explain a congenital malformation of all three areas. I report the case of a child with ...
Ku P K - - 1999
A case of Sturge-Weber syndrome is described in which all paranasal sinuses were grossly enlarged. The mastoid, petrous and squamous portions of the temporal bone on both sides were fully pneumatized and the right orbit was distorted. There was resistant infection in the left maxillary sinus. These unusual features were ...
Dervendizi Sikova D - - 1999
Naevus varicosus osteohypertrophicus (synonym Klippel-Trenaunay Syndrome KTS) is relatively rare circumscribed, usually quadrant-related gigantism with vascular hyperplasia or malformations based on the embryonic development. The authors observed an 18- and a 30-year-old female with a triad of symptoms: cutaneous nevus flammeus, varicose and dilated veins, and bony and soft tissue ...
Faulborn J - - 1999
PURPOSE: To report visual and anatomic outcomes after modified scleral surgery in patients with uveal effusion syndrome with retinal and choroidal detachment. METHODS: In five eyes of four patients with retinal and choroidal detachment and uveal effusion syndrome due to nanophthalmos, we performed pars plana full-thickness unsutured sclerotomies without sclerectomy. ...
Dobbs P - - 1999
We describe the use of epidural analgesia for vaginal delivery of a parturient with Klippel-Trenaunay syndrome in whom the use of repeated magnetic resonance imaging during her obstetric care allowed us to see deep haemangiomata. This also allowed the safe sitting of an epidural catheter at L1-2 to provide analgesia ...
Inan C - - 1999
This is an 11 month old girl who has been referred to our institute for a seizure disorder. Her physical examination showed angiomas on the left side of her face, and more extensive and prominent ones on her palms and soles. Her right face and arm were smaller than the ...
Eliassi-Rad B - - 1999
PURPOSE: To report the postmortem histopathologic features that closely resemble the clinical features of parafoveal telangiectasis. METHODS: Light and electron microscopy. RESULTS: Histopathologic features included macular edema; telangiectatic vessels; retinal, subretinal, and superficial retinal neovascularization; retinal pigment epithelial hyperplasia around neovascular aggregates; retinal-choroidal vascular anastomosis; and superficial pigmented cells with ...
Coley S C - - 1998
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that is typically associated with progressive neurological deterioration. We describe a 12-year-old girl with SWS who suffered a permanent cerebral insult as the result of a period of protracted status epilepticus. The case illustrates the unique susceptibility of patients with SWS to uncontrolled ...
Maria B L - - 1998
Abnormal cerebral venous drainage is associated with hypoxia and glucose deprivation, which can account for progressive neurologic deterioration in Sturge-Weber syndrome. Although developmental delay is common in Sturge-Weber syndrome, bihemispheric calcification is uncommon. Computed tomography (CT) and magnetic resonance imaging (MRI) were used to study the neuroanatomy, while single photon ...
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