ABSTRACT
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.
Subject(s)
Humans , Male , Child , Klippel-Trenaunay-Weber Syndrome/diagnostic imaging , Magnetic Resonance Imaging , Radiography , Ultrasonography , Vascular Malformations/diagnostic imaging , Hypertrophy/diagnostic imaging , Musculoskeletal Abnormalities/diagnostic imagingABSTRACT
Abstract Introduction: Chronic upper airway obstruction due to marked nasal septal deviation may cause chronic hypoxia. It may change the balance of the sympathetic-parasympathetic system and may affect blood flow in the choroid. Objective: To assess choroidal thickness measurements of patients with marked nasal septal deviation. Methods: The patients who had nasal obstruction symptoms diagnosed with marked nasal septal deviation by anterior rhinoscopy and nasal endoscopy and scheduled for septoplasty were included in the study. The control group consisted of age, sex and body mass index-matched healthy individuals. The choroidal measurements at the central fovea and 1000 µm away from the fovea in the nasal and temporal regions were performed using enhanced depth imaging optical coherence tomography. Results: In the study group, 52 eyes of 26 patients with a mean age of 26.34 ± 8.14 years were examined. In the control group, 52 eyes of 28 healthy individuals with a mean age of 26.69 ± 7.84 years were examined. There was no statistically significant difference in terms of choroidal thickness measurements between the groups (p > 0.05). Conclusion: Our results suggest that marked nasal septal deviation may not lead to significant hypoxia and sympathetic activation, resulting in deterioration of the choroidal blood flow and consequent choroidal thickening.
Resumo Introdução: A obstrução crônica das vias aéreas superiores devido a acentuado desvio do septo nasal pode causar hipóxia crônica. Pode alterar o equilíbrio do sistema simpático-parassimpático e afetar o fluxo sanguíneo na coroide. Objetivo: Avaliar as medidas da espessura da coroide em pacientes com acentuado desvio de septo nasal. Método: Foram incluídos no estudo pacientes que apresentavam sintomas de obstrução nasal, com diagnóstico de acentuado desvio de septo realizado por rinoscopia anterior e endoscopia nasal, e com septoplastia programada. O grupo controle consistiu de indivíduos saudáveis pareados por idade, sexo e índice de massa corporal. As medidas da coroide na fóvea central e a 1.000 µm da fóvea nas regiões nasal e temporal foram feitas com tomografia de coerência óptica com imagem de profundidade melhorada. Resultados: No grupo de pacientes, 52 olhos de 26 pacientes com média de 26,34 ± 8,14 anos foram examinados. No grupo controle, 52 olhos de 28 indivíduos saudáveis com média de 26,69 ± 7,84 anos foram examinados. Não houve diferença estatisticamente significante em termos de medidas da espessura da coroide entre os grupos (p > 0,05). Conclusão: Nossos resultados sugerem que desvios do septo nasal acentuados podem não levar à hipóxia significativa e ativação simpática, resultar na deterioração do fluxo sanguíneo coroidal e consequente espessamento da coroide.