We present a rare case of an 8-year-old male with Klippel-Trenaunay syndrome (KTS) and a Chiari I malformation (CIM). Magnetic resonance imaging (MRI) to investigate facial asymmetry and speech delay at age two revealed CIM with cerebellar tonsils 1.3 cm below the foramen magnum without syringomyelia. The patient underwent a craniectomy and posterior fossa decompression with C1 laminectomy. While gene sequencing determined the patient was negative for the PIK3CA gene mutation, the patient\'s clinical history strongly suggests KTS. He has hemihypertrophy, leg length discrepancy, hemangiomas and pigmentary mosaicism along the upper and lower extremities, heart murmur, chronic low heart rate, recurrent hip pain, and mild scoliosis. Neurodevelopmental concerns include difficulty reading, attention deficit hyperactivity disorder (ADHD), anxiety, and difficulty running and going downstairs. His most recent MRI shows good decompression at the cervicomedullary junction, global cerebrospinal fluid (CSF) flow, and less peg-like cerebellar tonsils. Also noted were two intravertebral hemangiomas at T5 and T6. While the patient\'s speech has improved, there is still difficulty with the expressive language. He still has mild delays, runs slowly, and does not alternate feet when climbing stairs. The patient is being followed by multiple specialists including neurology, hematology-oncology, genetics, orthopedic surgery, and developmental pediatrics.

Klippel-Trenaunay Syndrome (KTS) is a rare and sporadic congenital disorder, characterized by the classical triad of port-wine stains, varicosities along with bone and soft tissue hypertrophy. Symptoms of Klippel-Trenaunay Syndrome include pain, swelling, lymphedema, bleeding, superficial thrombophlebitis, and deep vein thrombosis. The etiology remains indistinct and has been attributed to both genetic and environmental factors. In most cases, a thorough history and clinical examination is enough for the diagnosis of Klippel Trenaunay Syndrome. However, when certain complications are present, noninvasive imaging techniques are used for the diagnosis and evaluation of the disease in patients. Due to the diversity of presentation, a multidisciplinary approach is essential for the proper management of such patients. At present, there is no cure for the disease; rather, symptomatic treatment is employed in order to improve the patients\' quality of life. In this review, we provide a brief overview of the clinicopathological profile and management of Klippel-Trenaunay Syndrome.

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.
METHODS: 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.

UNASSIGNED: Uncommon diseases are usually not suspected at initial presentation, and the diagnosis might be challenging. Here we present a rare disease diagnosed in a work-related injury setting, highlighting the importance of further investigation by means of a more detail physical exam, imaging studies and involvement of other specialties.
UNASSIGNED: A 21-year-old Hispanic male, who is a food service worker, presented following a work-related right elbow contusion with severe pain to his right elbow associated with swelling and purplish-red bruising/discoloration on its medial side and forearm. Physical exam demonstrated swelling, tenderness, and conspicuous dilated blood vessels across the right arm and forearm; additionally, multiple red-purplish scattered patches were found on the right arm, anterior and posterior right upper chest. His past medical history was significant for Capillary Hemangioma. He was initially treated conservatively and with work restriction; however, the pain in the forearm persisted. CT angiogram showed multiple interweaving vascular structures on the forearm, and further imaging by MR angiography depicted multiple vascular malformations in the right upper extremity and chest. Vascular surgery was consulted, and the diagnosis of Klippel-Trenaunay syndrome was made.
UNASSIGNED: Klippel-Trenaunay syndrome is a rare congenital disorder that could present in a wide-range of signs and symptoms. Thorough history taking and clinical examination is warranted in any work-related injuries. Further work up and referral to specialist should always be considered when diagnosis is unclear, or when initial symptoms do not resolve with treatment.

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.

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.
METHODS: 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.

Klippel-Trenaunay syndrome is characterised by vascular abnormality which increases the risk of thromboembolism and haemorrhage. Physiological changes in pregnancy pose an increased risk to these complications. Being an uncommon disorder, there is limited literature about the management of women with pregnancy and Klippel-Trenaunay syndrome. We report in detail two of three pregnancies in a woman with Klippel-Trenaunay syndrome who had repeated episodes of haematochezia leading to anaemia, managed with Argon laser Photo-Coagulation in pregnancy and also reviewed the complications and the management of pregnant women with Klippel-Trenaunay syndrome.

Klippel-Trenaunay-Weber syndrome (KTWS) involves a triad of conditions, including cutaneous hemangiomas, venous varicosities, and osseous and soft-tissue hypertrophy of the affected limb. We describe a rare case of multiple cavernomas in the central nervous system in a patient with KTWS. A-64-year-old man with KTWS and a previous brain hemorrhage presented with sudden onset of gait and vesicorectal disturbance. The magnetic resonance imaging scan showed a cavernoma associated with hemorrhage in his lumbosacral spinal cord. Moreover, numerous cavernomas were identified in his brain. He was treated conservatively with no adverse events. Gait disturbance improved, but vesicorectal disturbance did not improve.

Klippel-Trenaunay syndrome (SKT) is a rare disease characterized by cutaneous haemangiomas, capillary malformations venous (venous varicosities), bone and soft tissue hypertrophy affecting one or more limbs. It is often associated with hemorrhagic and thrombotic complications, especially during pregnancy. Vulvovaginal anomalies at risk of bleeding may occur in late trimester of pregnancy, affecting delivery. The terms of delivery depends on the severity of vascular malformations and the experience of the obstetrician. We report the case of a woman in labor at 38 weeks gestation with a SKT with involvement of the left leg up to the corresponding large lip. She presented after vaginal delivery a severe post-partum hemorrhage (2000mL) secondary to vaginal lacerations requiring sutures and supplemented by arterial embolization. A multidisciplinary approach is required at delivery.

BACKGROUND: Klippel-Tranuanay Syndrome is a rare sporadic disease characterized by clinical triad of capillary malformation; soft tissue and bony hypertrophy; and atypical varicosity. Although this syndrome was first described more than hundred years ago, exact incidence has not been estimated yet. Several theories have been postulated to describe its pathogenesis. Clinical presentation of this syndrome is protean ranging from minimal asymptomatic disease to life threatening bleeding and embolism. Management of this syndrome includes careful diagnosis, prevention and treatment of complications.
METHODS: We are presenting a case of Klippel-Tranuanay Syndrome in a 19-year-old male patient presenting with varicosity in lateral aspect of right leg. On careful examination other components of the syndrome were found. Patient was kept on yearly follow up.
CONCLUSIONS: Usually patients with Klippel-Tranuanay Syndrome present with complication. This case shows that there is also a need for medical solutions in patients who seek advise for cosmetic reasons.