Síndrome congénito de Klippel-Trenaunay-Weber: caso clínico / Congenital Klippel-Trenaunay-Weber syndrome: clinical case

RESUMEN: El síndrome de Klippel-Trenaunay-Weber (SKTW) es una enfermedad congénita poco frecuente caracterizada por hipertrofia de un miembro que afecta a los huesos y a las partes blandas, con extensos angiomas planos, várices y otras anomalías vasculares, como fístulas arteriovenosas. Su incidencia es de 1:100.000 personas. El objetivo fue describir un caso raro de SKTW bilateral, confirmado con hallazgos clínicos e imagenológicos en un niño de 9 años de edad, de sexo masculino, con antecedentes de sangrado digestivo bajo, herniorrafía inguinal izquierda y orquidopexia ipsilateral. En ambos miembros inferiores se identificaron lesiones hemangiomatosas e hipertrofia muscular y edema en miembro inferior izquierdo con ausencia de segundo y tercer dedos del pie izquierdo por antecedente quirúrgico de amputación. Adicionalmente, presentaba adenopatías cervicales e inguinales. Dentro de los hallazgos radiográficos importantes, se observó una cortical ósea delgada en el fémur del miembro inferior izquierdo. El SKTW afecta típicamente a los miembros inferiores de forma unilateral; este es un caso infrecuente de afección bilateral (con predominio izquierdo). Algunos pacientes, registran compromiso visceral con hemorragia digestiva baja, además de alteraciones genitourinarias, presentes en el 30% de los casos. La presentación de adenopatías es inusual.

SUMMARY: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disease characterized by limb hypertrophy affecting bones and soft tissues, with extensive flat angiomas, varicose veins, and other vascular abnormalities, such as arteriovenous fistulas. Its incidence is 1: 100,000 people. The aim of this work was to describe a rare case of bilateral KTWS, confirmed with clinical and imaging findings in a 9-year-old male, with a history of lower gastrointestinal bleeding, left inguinal herniorrhaphy and ipsilateral orchidopexy. In both lower limbs, hemangiomatous lesions and muscle hypertrophy were identified, and in the left lower limb edema was identified with absence of the second and third toes due to a surgical history of amputation. Additionally, the patient presented cervical and inguinal lymphadenopathy. Among the important radiographic findings, in the left lower limb femur a thin bony cortex was observed. KTWS typically affects the lower limbs unilaterally; this is an infrequent case of bilateral affection (predominantly left). Some patients have visceral involvement with lower gastrointestinal bleeding, as well as genitourinary alterations, present in 30 % of cases. The presentation of lymphadenopathy is unusual.

Retinal vascular abnormalities in Sturge-Weber syndrome

Sturge–Weber syndrome (SWS) includes facial, leptomeningeal and choroidal hemangioma. The retinal vasculature is essentially normal. Rare cases of retinal vascular tortuosity and arterio-venous malformations have been reported. We report two cases with rare concomitant retinal vascular abnormalities along with SWS. Both the patients had nevus flammeus, hemifacial hypertrophy, and choroidal hemangioma. In one case, retinal cavernous hemangioma was seen in the affected eye. The other case revealed retinal neovascularization secondary to proliferative diabetic retinopathy in the eye with choroidal hemangioma.

Clinical analysis of peripancreatic vascular abnormalities complicated with pancreatitis / 中华胰腺病杂志

Objective To determine the prevalence and clinical features of peripancreatic vascular abnormalities in patients with pancreatitis.Methods The clinical data of 102 pancreatitis patients between January 2013 to December 2014 in the General Hospital of Shenyang Military Command who underwent contrast enhanced CT or contrast enhanced MRI scans were retrospectively analyzed.The radiological features of peripancreatic vascular abnormalities in such patients were examined, and the clinical features of pancreatitis patients with or without peripancreatic vascular abnormalities were investigated.Results Peripancreatic vascular abnormalities were found in 18 patients(17.6%), and vascular abnormalities were relatively common in portal vessels.No significant differences were observed on the age at onset, gender ratio, smoking status, alcohol consumption and length of stay between patients with and without peripancreatic vascular abnormalities.Compared with those without peripancreatic vascular abnormalities, patients with peripancreatic vascular abnormalities had a significantly higher incidence of peripancreatic fluid collection, pancreatic pseudocyst and gastric varices, and the differences were statistically significant(all P<0.05).Conclusions Peripancreatic vascular abnormalities can be complicated with pancreatitis.Enhanced CT or enhanced MRI were valuable in the diagnosis.Pancreatic pseudocyst, peripancreatic fluid collection and gastric varices were more common in pancreatitis complicated with peripancreatic vascular abnormalities.

Dignosis and therapy on hemangiomas and vascular malformation in view of the new classification / 北京大学学报(医学版)

Vascular birthmarks are the most common disease.The morbidity is about 2.5%,most of the lesions occur in oral and maxillofacial regions which accounts for 40%-60% of the total lesions.In 1982,Mulliken and Glowacki proposed a biologic classification of vascular birthmarks on the basis of their clinical manifestations,histopathological features,and natural history.They defined hemangiomas as vascular tumors with a growth phase,marked by endothelial proliferation and hypercellularity,and an involutional phase.They recognized that many entities referred to as hemangiomas are actually structural malformations of the vasculature,derived from capillaries,veins,lymph vessels,or arteries or from a combination of these sources.The classification was confirmed and issued by International Society for the study of vascular anomality(ISSVA) in 1988.Waner and Suen amended the above category in 1995.This paper presents the new classification of vascular birthmarks and the developments in this field in re-cent years,including the pathology,clinical features and the therapy.For example,the classification of venular malformation categorized by Waner in 1989;the classification of lymphous malformation by Waner and Suen in 1995;and the treatments according to above classifications.

Hemangiomas, nuevos enfoques terapéuticos / Hemangiomas: focus on new therapeutic options

Debido a que los hemangiomas son tumoraciones benignas frecuentes en la infancia, es importante establecer las diferencias existentes con otras anomalías vasculares. Esta revisión bibliográfica tiene como objetivos determinar las características clínicas especificas que constituyen un hemangioma y las posibilidades de una regresión rápida del tumor mediante el manejo temprano de nuevas formas terapéuticas utilizadas en la actualidad con la finalidad de disminuir secuelas que puedan afectar el bienestar psicológico del paciente; en aquellos casos de crecimiento tumoral exagerado o con complicaciones.Concluimos que la utilización de alta tecnología como el láser en etapa precoz, ha disminuido la proliferación celular causantes del desarrollo de estos tumores.

Hemangiomas are benign tumors very common during infancy. It is important to establish the difference that exists between hemangiomas and other vascular abnormalities. The objectives of this article are to determine: 1.The specifics clinical characteristics that an hemangioma has. 2.The possibilities of a fast regression of the tumor using new therapeutic methods.These new therapeutic methods will lower the side effects that affect the psychological well being of the patient specially in cases where the tumor has grown in a exaggerated way or when there are complications.We conclude that the use of new technology like laser treatment in an early stage has slowed down cellular growth that leads the development of this tumor.