Prenatal diagnosis of Klippel-Trenaunay syndrome: Series of four cases and review of the literature.
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SUBMITTER: Ivanitskaya O
PROVIDER: S-EPMC7254946 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by the triad of venous varicosities, capillary malformations and limb hypertrophy. However, KTS may rarely occur in combination with kyphoscoliosis. CASE PRESENTATION:We presented an 18-year-old female with KTS and kyphoscoliosis. Hypertrophy of bone and soft tissue affected her left face, trunk and lower limb. Moreover, the patient is associated with subacute thyroiditis, vitamin D deficiency and iron deficiency anemia, high level of D-dimer, swollen tonsil, kyphoscoliosis and Chiari-I-malformation without syringomyelia. A posterior correction and spinal fusion from T10 to L5 levels were performed for this patient. The lumbar curve was corrected from 105° to 60° and the kyphosis improved from 58° to 26°. The distance of trunk shift decreased from 10?cm to 1.4?cm. There were no thrombotic events occurred. At the 8th month follow-up, there was no significantly change of the curve in the coronal and sagittal radiographs. During the 31-month follow-up, the patient did not experience any discomfort. And her general appearance did not have any change until the last follow-up. However, she refused to take radiograph for worrying about radiation. CONCLUSIONS:KTS is a rare disease with classic clinical triad. However, it can also have other different features, including kyphoscoliosis, elevated D-Dimer, vitamin D deficiency and iron-deficiency anemia. These issues should be taken into consideration when planning treatment for kyphoscoliosis in KTS patients.
| S-EPMC6320630 | biostudies-other
Project description:IntroductionKlippel Trenaunay Syndrome (KTS) is a rare congenital malformation with capillary and venous malformations and soft tissue/bony overgrowth with or without lymphatic malformation. Cutaneous vascular stain, varicosities and tissue hypertrophy represent its main clinical features. Besides, the patient can develop thromboembolic pathologies, recurrent bouts of infection, stasis eczema, limb length discrepancy and intolerable pain typical of intraosseous involvement.MethodsHere, we report a case series of seven patients aged 10-45 who presented to our centre with clinical features suggestive of KTS. Out of them, six patients had involvement of unilateral lower limb, while only one had involvement of bilateral lower limb. They all had typical cutaneous vascular stains and underlying venous malformation, while one patient had developed complications with multiple ulcer formation.OutcomesAn interdisciplinary team of vascular surgeons, dermatologists, interventional radiologists, orthopaedics, and physiotherapists managed the cases. We performed an individualized treatment as per the patient's presentation, which included a combination of supportive, medical, interventional radiologic, and surgical interventions. The follow-up outcomes of all the patients revealed significant resolution of symptoms.ConclusionPatients with KTS can have diverse presentations. Therefore, clinicians should ensure an individualized treatment with the involvement of a multidisciplinary team for proper management and prevention of complications.
| S-EPMC9114462 | biostudies-literature
Project description:Klippel-Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel-Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.
| S-EPMC10453504 | biostudies-literature
Project description:BACKGROUND:Klippel-Trenaunay syndrome (KTS) is a rare complex vessel malformation syndrome characterized by venous varicosities, capillary malformations, and limb hypertrophy. However, extensive heterotopic ossification (HO) secondary to this syndrome is extremely rare. CASE PRESENTATION:We report the case of a patient with previously undiagnosed KTS and extensive HO who presented with a femoral fracture secondary to a motor vehicle accident. Extensive ossification, which leads to compulsive contracture deformity and dysfunction of the leg, was distributed on the flexor muscle side, as revealed by the radiograph. The diagnosis was finally established by combining imaging and histological analysis with classical clinical symptoms. Amputation was performed at the fracture site proximal to the infected necrotic foci. Open management of the fracture was challenging owning to the pervasive ossification and tendency for excessive bleeding. Gene sequencing analysis showed homozygous mutation of FoxO1 gene. CONCLUSIONS:Definitive diagnosis of a combination of KTS and extensive HO requires detailed imaging analysis and pathologic evidence. Mutation of the FoxO1 gene, which regulates bone formation by resistance to oxidative stress in osteoblasts, is a potential factor in the microenvironment of malformed vessels caused by KTS.
| S-EPMC7149888 | biostudies-literature
Project description:Klippel Trenaunay syndrome (KTS) is a rare, sporadic congenital syndrome characterized by cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. It is genetically heterogeneous, and its clinical presentation is variable. We report the case of a 13-year-old male with KTS, who presented with a cerebral cavernous angioma in the corpus callosum. To the best of our knowledge, this is the first reported case of its kind from Pakistan and the only known case in the literature of KTS to be treated with stereotactic radiosurgery. The possibilities of shared genetic pathways between KTS and cavernous angiomas and the need for neurovascular scrutiny in patients with this syndrome are discussed.
| S-EPMC6538107 | biostudies-literature
Project description:The relationship between lymphatic and venous malformations in Klippel-Trénaunay syndrome is difficult to assess. Herein the authors describe near-infrared fluorescence lymphatic imaging to assess the lymphatics of a subject with a large port-wine stain and right leg edema. Although lymphatic vessels in the medial, affected knee appeared dilated and perhaps tortuous, no definitive abnormal lymphatic pooling or propulsion was observed. The lymphatics in the affected limb were well defined but less numerous than in the contralateral limb, and active, contractile function was observed in all vessels. As demonstrated, near-infrared fluorescence lymphatic imaging enables the clinical assessment of lymphatics in lymphovenous malformations.
| S-EPMC5474947 | biostudies-literature
Project description:Background and purposeKTS is a rare limb overgrowth disorder with slow-flow vascular anomalies. This study examines the presumed association between KTS and spinal AVMs.Materials and methodsWe performed a MEDLINE search of articles and reviewed textbooks of spinal diseases to study the association between KTS and spinal AVM. Our goal was to ascertain the basis on which the diagnosis of KTS was established and to evaluate the evidence of its association with spinal AVMs. In addition, the data base of the Vascular Anomalies Center at Children's Hospital Boston was queried for patients with KTS, and the association with spinal AVM was investigated.ResultsTwenty-four published reports on spinal AVMs in 31 patients with KTS were reviewed. None of these references provided solid evidence of the diagnosis of KTS in any patient. Clinical data were either incompatible with the diagnosis of KTS or were inadequate to establish the diagnosis. Alternative possible diagnoses (CLOVES syndrome and CM-AVM) were suggested by the first author for 9 of the patients reported in these articles. The medical records of 208 patients with the diagnosis of KTS were analyzed; not a single patient had clinical or radiologic evidence of a spinal AVM.ConclusionsAn association between KTS and spinal AVM, as posited in numerous references, is most likely erroneous. The association has neither been reliably proved in the limited published literature nor encountered in a large cohort.
| S-EPMC7964980 | biostudies-literature
Project description:Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2-4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS.
| S-EPMC8435413 | biostudies-literature
Project description:Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder. It is typically characterized by unilateral, posterior leptomeningeal angiomas that calcify, glaucoma, and facial portwine tains. Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by ipsilateral cutaneous capillary malformations, venous varicosities, and bony or soft tissue overgrowth of the affected limbs. The clinical, neuroradiological features as well as the outcome of a Saudi boy who was referred to the Division of Pediatric Neurology, King Saud University Medical City, Riyadh, Saudi Arabia, with intractable focal seizure and left-sided hemiparesis who was eventually diagnosed with combined SWS and KTS is described here. The rare coexistence of SWS and KTS should be suspected in a child presenting with neurological manifestation such as epilepsy, mental sub normality, or hemiparesis, with port-wine staining or capillary hemangioma and enlarged limbs. Awareness may help in improving the quality of life and survival of these patients.
| S-EPMC5237841 | biostudies-literature
Project description:Klippel-Trenaunay syndrome (KTS) is a rare disorder with a wide array of clinical manifestations. It is primarily a disorder of vascular malformations that is classically associated with the development of hemangiomas and venous malformations. Rarely will KTS present with visceral involvement. Venous malformations of the gastrointestinal tract in specific are an exceedingly rare manifestation of KTS. When present, it can result in life-threatening bleeding that is oftentimes difficult to manage. Our case highlights a 53-year-old woman who presented to our clinic with chronic rectal bleeding secondary to KTS.
| S-EPMC6306110 | biostudies-other