Dados do Trabalho

Título

CASE SERIES: KLIPPEL-TRENAUNAY SYNDROME

Apresentação dos casos

Case 1: 10 years old male patient, referred to the pediatric neurology clinic due to dysmorphisms associated with a history of seizures. Before birth, presented pleural effusion with need for intrauterine drainage. During the neonatal period, presented with an axillary nodule of hematic content and gastrointestinal bleeding. Episodes of bleeding from mucosal hemangiomas, post-operative procedures and susceptibility to abscess formation were referred. In February 2024 presented the first seizure, initially focal evolving to generalized tonic clonic seizure. At physical examination the patient had left hemi-megalia, augmented 2nd and 4th right fingers and toes, multiple hemangiomas (cutaneous and mucosal), varicose veins on lower limbs, and limping gait due to asymmetry of lower limbs.

Case 2: Female infant, 3 months old, referred to pediatric neurology clinic due to malformations observed at birth. At physical examination presented lower lip hemangioma, asymmetric face and body with augmented proportions at the right side, cutaneous hemangiomas on the torso, extranumerary toe and finger on right foot and hand. Had normal neurodevelopment and dimidiated right hipertonia. No history of seizure, workup including transfontanellar ultrasound showed lateral ventricles asymmetry and enhanced echogenicity of cerebral parenchyma. Whole body MRI (2024) showed periventricular leukomalacia, asymmetry of the face due to augmented soft tissue and vascular structures on the right side, and muscular asymmetry, bigger on the right side of the body.

Case 3: Male 7 year old patient, presented with multiple vascular and lymphatic malformations, right hemi-megalia and hemi-megaloencephalia associated with pachygyria and hamartomatous dysplasia, arterio-venous malformations on pelvic and thoracic region as well as lymphatic proliferation and soft tissue deformities on limbs. Evolved with untreatable pain secondary to deformities and drug resistant epilepsy. Deceased at age 7 after nonconvulsive status epilepticus and cardiac dysfunction.

Discussão

Klippel-Trenaunay syndrome (KTS) is a complex congenital disorder defined as the triad of capillary malformation, venous malformation, and limb overgrowth, with or without lymphatic malformation. Its genetic background is complex and clinical presentation may vary widely.

Comentários finais

Different presentations and severity of the syndrome demonstrate its heterogeneous character, and studying these particularities may allow better comprehension of it.

Referências

Ilona J Frieden, MDDerek H Chu. Klippel-Trenaunay syndrome: Clinical manifestations, diagnosis, and management. In: UpToDate, Wolters Kluwer (Acesso em 21 de julho de 2024).

Palavras Chave

Klippel-Trenaunay Syndrome; Hemi-megalia; arterio-venous malformations