Klippel-Trenaunay-Weber syndrome is characterized by cutaneous hemangiomas, varicosity and bony hypertrophy of extremities. Urinary tract hemangiomas may occur in 3 to 6% of these patients. This work intends to report a case of a patient with a huge vesical hemangioma, who presented this syndrome. A 5 year-old boy with Klippel ...

Klippel-Trenaunay syndrome is a congenital disorder characterised by the 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 but rare is ...

PURPOSE: To investigate the cause of the secondary glaucoma in a case of Sturge-Weber syndrome by histopathology. CASE: A 10-year-old boy with Sturge-Weber syndrome and glaucoma in the right eye was studied. Trabeculectomy was performed because of uncontrolled intraocular pressure, and the trabeculectomy specimen was examined histologically by both light ...

Aortic coarctation was diagnosed in a 27-year-old man with Klippel-Feil syndrome, an inborn skeletal defect of the vertebral column associated with anomalies of various organs. The presented findings are discussed in the context to the theory of vascular artery supply disruption sequence during embryogenisis as a potential explanation for the ...

OBJECTIVE AND IMPORTANCE: Cobb syndrome is a rare clinical entity characterized by the combination of a vascular skin nevus and an angioma in the spinal canal at the same metamere. We present a case report of an infant with Cobb syndrome. CLINICAL PRESENTATION: A 5-month-old girl presented with cutaneous hemangioma ...

Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous ...

The Klippel-Trenaunay syndrome (KTS) is a rare syndrome characterised by the triad of varicose veins, bony and soft tissue hypertrophy, and cutaneous haemangioma. A 30 year old man with KTS with a right mediastinal mass which progressively enlarged over 5 years is described. Computed tomography, magnetic resonance imaging, and bronchial ...

The aim of this report is to explain the historical differences between Klippel-Trenaunay (KT), Klippel-Trenaunay-Weber (KTW), and Klippel-Trenaunay-Servelle (KTS) syndromes. Furthermore, an attempt will be made to describe the different causes, symptoms, and consequences of the pathology, largely as a consequence of venous hypertension. The significance of these syndromes within ...

Klippel-Trenaunay-Weber syndrome (KTW), also known as angio-osteohypertrophy syndrome, is a complex developmental disorder characterized by asymmetric hemi-hypertrophy of limbs and trunk due to bony and soft tissue overgrowth that may extend across the midline, varicose veins, and cutaneous hemangiomata. This rare syndrome has been previously described in the prenatal period ...

OBJECTIVE AND IMPORTANCE: Spinal cord involvement in Klippel-Trenaunay-Weber (KTW) syndrome is rare. Cases of intradural spinal cord arteriovenous malformations (AVMs) have been associated with this syndrome. Likewise, cases of epidural hemangioma and angiomyolipoma have been reported to occur at the same segmental level as cutaneous hemangioma in KTW syndrome. This ...

Port wine stain of Sturge-Weber syndrome represents a cosmetic prejudice with social consequences. We have treated eight patients with a 585 nm pulsed dye laser. According to our experience, the treatment is not risky provided that adequate care is taken; the cosmetic result on the V1 port wine stain component ...

Neurocutaneous syndromes are congenital or hereditary conditions that have many features in common: hereditary transmission, involvement of organs of ectodermal origin (nervous system, eyeball, retina, and skin), slow evolution of lesions in childhood and adolescence, and disposition to fatal malignant transformation. Except for Sturge- Weber syndrome, these major neurocutaneous syndromes ...

We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma. Although he does not have macrocephaly, his clinical picture is compatible with the diagnosis of Macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC). Interestingly, retinoblastoma is not generally associated with overgrowth syndromes, and its ...

A patient with association of Klippel-Feil syndrome and posterior fossa dermoid cyst is presented. The patient, a 36-year-old man, presented with an acute obstructive hydrocephalus due to the cyst and exhibited the typical triad of the Klippel-Feil abnormality with short neck, low hairline implantation and limited neck motion along with ...

Kasabach-Merritt syndrome, the association of a vascular lesion and consumptive coagulopathy, can represent a diagnostic and therapeutic challenge to clinicians. We describe an infant with a large complex vascular lesion of the left forearm that was successfully surgically excised. We propose surgical excision as an appropriate therapeutic option for some ...

Large vestibular aqueduct syndrome (LVAS) is a congenital disorder characterized by progressive or fluctuating sensorineural hearing loss of unknown etiology. Serial MR examinations were performed before and after the development of hearing loss in two patients with LVAS. The signal and volume of the enlarged endolymphatic sac (EES) vary even ...

We report a 15-year-old boy with bilateral chylothorax complicating Gorham's syndrome. Thoracic duct ligation failed to prevent fluid reaccumulation. The patient died of lymphocytopenia. Autopsy revealed vascular proliferation in the parietal and visceral pleura as well as in the ribs, which seemed to cause persistent chylothorax responsible for the poor ...

Classic Sturge-Weber syndrome is characterized by a facial nevus and hamartomatous lesion in the brain. Hamartomatous lesions are usually located in the ipsilateral occipital region of the facial nevus. The other lobes may be involved. A few cases of Sturge-Weber syndrome without facial nevus have been reported. A 9-month-old male ...

A 57-year-old man with a 5-year history of progressive left-sided rigidity and apraxia had extensive bilateral calcification of basal ganglia, centrum semiovale, dentate nuclei, and cerebellar white matter on brain imaging. The case is an example of radiological Fahr's disease accompanying a clinical syndrome of corticobasal degeneration. Possible pathogenetic and ...

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare mesodermal phakomatosis characterized by (1) cutaneous haemangiomata (usually unilateral and involving an extremity) (2) venous varicosities and (3) osseous and soft tissue hypertrophy, also of the affected limb. Sturge-Weber Syndrome (SWS), also a mesodermal phakamatosis, is characterized by meningofacial angiomatosis with cerebral calcification. Overlap ...

Swyer James syndrome (SJS) is a rare disorder. It is generally discovered on a chest radiograph as increased translucency involving one hemithorax with diminished vascular markings. We present a 5-year-old girl admitted for the treatment of recurrent bronchiolitis. She was diagnosed as having Swyer James syndrome from the results of ...

The association of three physical findings including capillary malformation, varicosities, and hypertrophy of bony and soft tissues corresponds to Klippel-Trenaunay syndrome. This triad of findings, described by the two French physicians Klippel and Trenaunay in 1900, differs from Parkes-Weber syndrome, in that Klippel-Trenaunay syndrome does not incorporate significant hemodynamic arteriovenous ...

Klippel-Trenaunay (KT) syndrome is a vascular malformation characterized by a port-wine stain, varicose veins and hypertrophy of the affected limb. Ulceration is considered an uncommon complication of KT syndrome and occurrence of skin cancer has been previously reported only in one case. We observed a case of KT syndrome in ...

BACKGROUND: Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo's developing axis during weeks 3-8 of gestation. Persons with Klippel-Feil syndrome and cervical stenosis may be at increased risk for spinal cord injury after minor ...

The Klippel-Trenaunay-Weber syndrome is a rare disorder characterized by congenital vascular hamartomas, limb hypertrophy, cutaneous manifestations, lymphangiomas and atresia of lymph vessels with non-pitting edema. A three-year-old boy was referred to our clinic for progressive hypertrophy of leg and feet with 32-month history. We diagnosed Klippel-Trenaunay-Weber syndrome, and determined vesicoureteral ...

Cervico-oculo-acoustic (COA) or Wildervanck syndrome is characterized by the triad of Klippel-Feil anomaly, bilateral abducens palsy with retracted bulbs (Duane 'syndrome') and hearing loss. The clinical findings of this syndrome have been well documented. A few case reports with MRI findings have appeared in the literature showing brainstem and cerebellar ...

Speckled lentiginous nevus syndrome, a so far unrecognized cutaneous phenotype associated with neurological anomalies, is postulated on the basis of the following arguments. Phacomatosis pigmentokeratotica represents a twin spot phenomenon. One isolated half of this complex phenotype is observed rather often in the form of Schimmelpenning syndrome, whereas the other ...

Klippel-Trénaunay syndrome was first reported in 1900 by Klippel and Trénaunay. The syndrome is characterized by the triad of vascular nevi, venous varicosity, and hyperplasia of soft tissue-and possibly bone-in the affected area. The original description was made with regard to the extremities. The syndrome is diagnosed on the basis ...

PURPOSE: To report the clinical findings and surgical treatment of multifocal, bilateral orbital hemangiomas in a patient with the blue rubber bleb nevus syndrome, a rare vascular disorder characterized by distinctive cutaneous and visceral hemangiomas. DESIGN: Interventional case report. METHODS: Review of clinical findings, radiologic studies, and treatment of the ...

OBJECTIVE: Evaluation of the auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome, a rare genodermatosis characterized by follicular hyperkeratosis, vascularizing keratitis, and congenital hearing loss. STUDY DESIGN: Five individuals with sporadic KID syndrome were evaluated in the outpatient audiology clinic at the Warren Grant Magnuson Clinical Center of the National Institutes of ...

BACKGROUND: Sturge-Weber syndrome has been known to be frequently associated with facial cutaneous angioma and ipsilateral glaucoma. However, as far as we know, no cases accompanied by acute angle-closure glaucoma have been reported in patients with Sturge-Weber syndrome. CASE: A 14-year-old boy with unilateral acute angle-closure glaucoma secondary to posterior ...

Because patients with Swyer-James syndrome have almost always been treated conservatively, few reports exist of pathological findings of the lung in this syndrome. We report a case of this rare disease treated surgically and discuss pathological findings. A 36-year-old woman repeatedly contracted bronchitis and pneumothorax since adolescence, until April 26, ...

OBJECTIVE: To describe a case involving the cryopreservation of testis tissue retrieved from a 15-year-old male teenager with Klinefelter's syndrome. DESIGN: Case report. SETTING: An academic medical center. PATIENT(S): A 15-year-old boy with Klinefelter's syndrome. INTERVENTION(S): Microsurgical testis sperm extraction with cryopreservation of harvested tissue. MAIN OUTCOME MEASURE(S): Spermatozoa within ...

PURPOSE: We summarize the literature and present our experience with genitourinary manifestations of the Klippel-Trénaunay syndrome, which can lead to challenging management problems. MATERIALS AND METHODS: We report on 2 patients with genitourinary manifestations of the Klippel-Trénaunay syndrome and performed a MEDLINE review of the literature using the key words ...

We describe a 37-year-old man complaining of right back pain and gait disturbance. He had a big soft tumor on his right back, hemihypertrophy of the right lower extremity, and right thoracic scoliosis. We diagnosed Klippel-Trenaunay-Weber syndrome based on the pathological findings of the soft tumor. Computed tomography (CT) scan ...

This report describes the prenatal sonographic diagnosis of a case of Klippel-Trénaunay-Weber syndrome. The sonographic appearance of this disorder was characterized by the presence of multiple distorted cystic areas involving the right leg and abdomen and cardiomegaly with early fetal heart failure. Despite the prenatal detection of the extensive cutaneous ...

The authors report a case of oro-facial port-wine stain angiomatosis with cutaneous and mucosal lesions localized in the first and the second branch surface distribution areas of the right trigeminal nerve in association with right upper and lower lip, cheek, and hemimaxillary true hypertrophy leading to a severe dento-skeletal malocclusion ...

The Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by a triad of port-wine stains, varicose veins, and bony or soft tissue hypertrophy of one extremity. Digestive bleeding is the most commonly observed gastrointestinal manifestation. In rare cases, the syndrome is associated with malignancies. We report the case of a ...

This overview of asymmetry addresses the following topics: chiral molecules; asymmetric signaling molecules, including N-cadherin, Shh, Fgf8, lefty1, lefty2, nodal, Pitx2, activin betaB, activin receptor IIA, and cSnR; situs abnormalities; asymmetric cell division; laterality in humans and animals; behavioral asymmetry in humans and animals; asymmetric embryopathies, including Tessier-type "clefts"; hemiasymmetries ...

Fabry disease (FD) is an X-linked recessive inborn error of glycosphingolipid metabolism. Among clinical symptoms, maculopapular skin lesions, known as angiokeratoma, most often appear on the lower abdomen, scrotum, and thighs, with a tendency toward bilateral symmetry. A 30-year-old male patient was referred to us for evaluation of a complex ...

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.

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 ...

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 ...

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 ...

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. ...

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 ...

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 ...

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 ...

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 ...

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 ...