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 ...

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 ...

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, ...

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 ...

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 ...

Abstract 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.

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 ...

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 ...

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, ...

Klippel-Tr?naunay 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-Tr?naunay syndrome has been infrequently described and has not been previously reported when accompanied by consumptive coagulopathy with thrombocytopenia (Kasabach-Merritt ...

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), ...

Klippel-Tr?naunay 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.

ABSTRACT: INTRODUCTION: Vascular malformation is associated with coagulopathies, especially when hemostasis is challenged. CASE PRESENTATION: 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. ...

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 ...

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 ...

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 ...

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.

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 ...

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 ...

Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder with a leptomeningeal, facial trigeminal nerve dominative area and choroidal angioma. The cause of this disease remains unclear. Due to the occurrence of localized abnormality of blood vessel formation, somatic mutation has been put forward. Studies have indicated that fibronectin gene ...

PURPOSE: Report the resolution of a persistent exudative retinal detachment in a patient with Sturge-Weber syndrome following intravitreal pegaptanib injection. DESIGN: Case report. METHODS: A 13-year-old male with Sturge-Weber syndrome presented with a choroidal hemangioma associated with an exudative retinal detachment that failed to resolve 6 months after external beam ...

Sturge-Weber syndrome (also called encephalofacial or encephalotrigeminal angiomatosis) is a rare neurocutaneous syndrome characterized by facial port-wine stains in the trigeminal nerve distribution area. An innovative treatment based on surgical and laser techniques of a patient affected with Sturge-Weber syndrome is reported. The aesthetic and functional results were satisfactory.

The Klippel-Trenaunay syndrome is a combination of venous and capillary malformations associated with soft tissue and/or bony limb hypertrophy, with or without lymphatic malformations. Although persistent foetal veins are rare, the persistence of the lateral marginal vein is a common association in this syndrome. It results in venous hypertension, which ...

Klippel-Trenaunay-Weber syndrome is characterized by a triad of features, namely, vascular nevi, venous varicosities, and hyperplasia of hard and soft tissues in the affected area. Involvement of the orofacial region is uncommon, but nevertheless, a wide range of orofacial abnormalities may necessitate specialized dental and anesthesia management. We have documented ...

Klippel-Trenaunay syndrome (KTS) is a rare disorder involving a triad of cutaneous capillary malformations (port-wine stain), varicose veins or venous malformations, and bony or soft tissue hyperplasia of an extremity. It is one of many heterogeneous disorders known as overgrowth syndromes that are characterized by either generalized or localized somatic ...

MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformations, ...

Klippel-Trenaunay syndrome (KTS) is a rare disorder characterised by congenital vascular hamartomas, limb hypertrophy, lymphangiomas and atresia of lymph vessels with non-pitting oedema. A 6-year-old girl with KTS was referred to our hospital for evaluation of intractable seizures. In addition to findings consistent with KTS, we also found hemimegalencephaly, retroperitoneal ...

Sturge-Weber syndrome without facial nevus is rare. Twenty-four cases were previously reported. Although hypomelanosis of Ito is a relatively common disorder, there was only one previous case in association with Sturge-Weber syndrome. We describe an 11-year-old boy with Sturge-Weber syndrome without facial nevus, coexistent with hypomelanosis of Ito.

Klippel-Feil syndrome is a visually arresting deformity wherein severe restriction of cervical motion predicts a difficult airway. Even minor distraction of the neck risks cervical spine or neurologic injury, so regional techniques, awake fiberoptic intubation, or awake tracheostomy are recommended anesthetic approaches. We present a case of aortic dissection in ...

Klippel-Feil syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae and patients with KFS are frequently asymptomatic. However, these patients are especially prone to cervical cord injury after a minor fall or a major traumatic episode. We report an unusual case of KFS where the patient ...

Sturge-Weber syndrome is a rare neurocutaneous disorder that typically presents with angiomas involving the face, ocular choroid and ipsilateral supratentorial leptomeninges. Posterior fossa involvement is extremely rare. We present two patients with simultaneous supra- and infratentorial involvement. Magnetic resonance imaging (MRI) and digital subtracted angiography (DSA) findings are discussed.

Osteopoikilosis is a rare, usually asymptomatic, autosomal dominant bone disorder, which is usually found incidentally on X-ray. Klippel-Feil syndrome is a rare disorder characterized by the congenital fusion of any two of the seven cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of ...

SUMMARY: The Sturge-Weber Syndrome (SWS) is a neurocutaneous disorder characterized by leptomeningeal and facial angiomas, neurologic and ocular manifestations. We report a case of oophorectomy for ovarian dermoid in a 14 year-old girl who was a diagnosed case of Sturge-Weber Syndrome. General anaesthesia was given for the procedure. The perioperative ...

This is the first case description of the association of Klippel-Feil Syndrome (KFS), Tourette Syndrome (TS), Motor Stereotypies, and Obsessive Compulsive Behavior, with chromosome 22q11.2 Duplication Syndrome (22q11DupS). Neuropsychiatric symptoms in persons with 22q11.2 deletion, including obsessive compulsiveness, anxiety, hyperactivity, and one prior case report of TS, have been attributed ...

Sturge-Weber Syndrome is a nonheritable congenital syndrome characterized by a "port-wine stain" on the face and angioma of the meninges. Ocular findings include diffuse choroidal hemangioma, retinal detachment, and various types of glaucoma. Management of diffuse choroidal hemangioma is aimed at preserving the affected eye and preventing glaucoma. In the ...

Klippel-Trenaunay syndrome patients often suffer degenerative joint disease at an early age. Performing arthroplasty in these patients is particularly difficult for a number of reasons. In this case report, we describe the second reported case of total hip replacement in Klippel-Trenaunay syndrome, using novel techniques to surmount the problems faced ...

We present a case of gingival overgrowth, with aesthetic repercussions, associated with Rendu-Osler-Weber syndrome. Treatment consisted of electric gingivectomy. We noted that it is necessary to carefully monitor hemorrhaging during surgery as well as to provide a correct differential diagnosis to distinguish this syndrome from other illnesses that involve gingival ...

Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized predominantly by cutaneous vascular malformations and pigmentary naevi. The most frequently reported form, Type II b, is associated with systemic involvement. Sturge-Weber Syndrome (SWS) with concomitant glaucoma, Klippel-Trenaunay Syndrome (KTS) and naevus of Ota have been frequently described, but there have ...

PURPOSE: To report a case of uveal effusion with subtotal exudative retinal detachment induced by topical administration of travoprost. CASE REPORT: A 20-year-old woman with a medical history of right-sided Sturge-Weber-Krabbe syndrome and bilateral aphakia secondary to congenital cataract extraction was referred to our department for retinal detachment associated with ...

INTRODUCTION: The craniocervical junction is a vital component in understanding the function of the human central nervous system. It is the threshold for major pathways affecting both brain and spinal cord function, and these structures are intricately housed in a network of bone, ligaments, and soft tissues. Abnormal development of ...

Alpha-1-antitrypsin deficiency is a congenital error of metabolism linked to pulmonary (emphysema) and liver (cirrhosis) disease. Since 1972, panniculitis has been associated with this deficiency, initially related to Weber-Christian syndrome and finally as a differentiated entity. Clinical manifestations typically consist of wide nodular lesions on the trunk and proximal extremities ...

Vertebral artery dissection as a cause of stroke is rarely reported in children. The association between vertebral artery dissection and Klippel-Feil syndrome is also very rare. We report on a case of vertebral artery dissection with posterior circulation involvement in a child with Klippel-Feil syndrome after a hard physical-training lesson. ...

The case of a 14-year-old girl suffering from Klippel-Trenaunay syndrome associated with multiple port-wine stain type vascular anomalies and varicose veins involving upper limbs is described. Finger deformations are common in Klippel-Trenaunay syndrome. In our patient, striking hypertrophy of soft tissues and overgrowth of bones were observed on both forearms ...

A 10-year-old girl with features of Klippel Trenaunay Syndrome developed a large left frontoparietal subdural hemorrhage. CT angiography and cerebral angiography identified prominent subependymal veins and deep venous system predominantly in the left cerebral hemisphere in association with a dilated left vein of Labbe and hypoplastic superior sagittal sinus. No ...

A patient with extensive facial and intracranial features of Sturge-Weber syndrome was found to have a persistent primitive hepatic venous plexus, characterized by three additional vessels arising from the inferior vena cava, circulating between liver segments, which formed a common trunk in the supra-hepatic region that flowed into the right ...

BACKGROUND: Myomatous erythrocytosis syndrome is defined by the combination of erythrocytosis, myomatous uterus and persistent restoration of normal haematological values after hysterectomy. A pathogenic role of erythropoietin is suggested by clinical and experimental data. CASE REPORT: A postmenopausal patient is described with the classical clinical signs of the myomatous erythrocytosis ...

Sturge-Weber syndrome is a rare disorder manifesting with a facial port-wine birthmark and a vascular malformation of the brain. Infants and children present with seizures and stroke-like episodes with focal neurologic deficits. Our previous investigations revealed that growth-hormone deficiency occurs with an increased prevalence in Sturge-Weber syndrome, presumably secondary to ...

Summary: We describe a 24-year-old woman who presented with twice previously unverified subarachnoid hemorrhages from the conus medullaris spinal arteriovenous malformation with Parkes-Weber-syndrome. Spinal MRI examination is considered to be necessary for the diagnosis of Klippel-Trenaunay-Weber syndrome. For diagnosis of the spinal cord arteriovenous malformation, it is indispensable to search ...

OBJECTIVE: The purpose of this review is to describe the role of imaging and associated findings in the diagnosis of blue rubber bleb nevus syndrome, Proteus syndrome, Klippel-Trénaunay syndrome, and Kasabach-Merritt syndrome. CONCLUSION: Blue rubber bleb nevus, Proteus, Klippel-Trénaunay, and Kasabach-Merritt syndromes are a diverse group of vascular malformation and ...

BACKGROUND: Laser therapy is the optimal approach for treating port-wine stains, but whether it is effective for patients with facial dermatomal port-wine stains and Sturge-Weber syndrome is undetermined. This project aimed to verify the incidence of Sturge-Weber syndrome and glaucoma within the population, compare the response in syndromic and nonsyndromic ...