RESUMEN
Peripheral arteriovenous malformations (AVMs) are rare vascular anomalies characterized by abnormal connections between arteries and veins that bypass the capillary system. This case report details a three-year-old female child who presented with an enlarging swelling on her knee's medial side. AVM was diagnosed using computed tomography (CT) angiography and surgically excised. The case highlights the importance of early detection and timely intervention of AVMs to prevent complications.
RESUMEN
Pediatric arteriovenous malformations (AVMs) are rare but carry a risk of devastating neurological morbidity and mortality. Rupture of a cerebral AVM is the most common cause of spontaneous intracranial hemorrhage in children, with an unruptured AVM having an approximate hemorrhage risk of 2%-4% per year. The complex etiology of pediatric AVMs persists as an impediment to a comprehensive understanding of pathogenesis and subsequent targeted gene therapies. While AVMs secondary to vascular malformation syndromes have a clearer pathogenesis, a variety of gene mutations have been identified within sporadic AVM cases. The Ephrin B2/EphB4 (RASA-1, KRAS, and MEK) signaling axis, hemorrhagic telangiectasia, NOTCH, and TIE2 receptor complexes (PIK3CA and mTOR), in addition to other isolated gene variants, have been implicated in AVM pathogenesis. Furthering the understanding of the molecular mechanisms of AVM pathogenesis will lead to future novel therapies and treatment paradigms. Given the expected lifespan of a child, pediatric patients have an unacceptably high cumulative lifetime risk of hemorrhage. AVM treatment strategies are dependent on AVM grade, provider preference, and institutional resources. While open microsurgery is the mainstay of treatment for some AVMs, radiosurgery for definitive treatment and adjunctive endovascular embolization are also used extensively. There is increasing evidence indicating that all three modalities play important and potentially synergistic roles in the armamentarium for pediatric AVM treatment. This review serves to report current understanding in the genetic and molecular mechanisms of pediatric AVMs, review clinical diagnostic and classification criteria, and detail treatment options and subsequent outcomes of pediatric AVM patients.
RESUMEN
BACKGROUND: Ruptured arteriovenous malformations (AVM) hold a larger proportion as the cause of spontaneous intracranial hemorrhage in children compared to those in adults. Although surgical excision still remains as the gold standard therapy for arteriovenous malformations, some smaller ones are reported to resolve from embolization alone. However, difficulty arises when small arteriovenous malformations are not detected on certain diagnostic modalities such as Computed Tomography Angiography (CTA), giving rise to false negatives, which may compromise appropriate management of patients. Endovascular embolization can be used as alternative options as diagnostic and therapy for invisible arteriovenous malformation in children. We report two cases of ruptured paediatrics arteriovenous malformations with a complication of hydrocephalus, managed with endovascular embolization and a cerebrospinal fluid diversionary procedure. CASE DESCRIPTION: We report 2 case in from Dr. Soetomo academic general hospital in 2021, the first case was a fully conscious 6-year-old-female child with sudden left-sided weakness and severe headache in January, and the second case a 9-year-old female came with decreased consciousness in May. Both had evidence of intracerebral hemorrhage, intraventricular hemorrhage, and hydrocephalus on head radiological examination, but no visible vascular malformations on Computed Tomography Angiography. The first patient was treated with extra ventricular drainage initially, while the second case was not. Transfemoral cerebral angiography revealed small arteriovenous malformations in both patients, and both had successful endovascular embolization afterwards. The first case was shunt-free, while the second case had her drainage switched to ventriculoperitoneal shunt right after the embolization procedure. Both patients recovered fully without complications and sequelae, and were discharged afterwards. DISCUSSION: Both patients did not undergo surgical resection of the arteriovenous malformations; the first case only underwent endovascular embolization, while the second case underwent embolization and ventriculoperitoneal shunting. The cases described here help highlight the irreplaceable role of Transfemoral Cerebral Angiography as a gold standard for cases for arteriovenous malformations compared to other modalities, such as Computed Tomography Angiography (CTA). Smaller arteriovenous malformations in paediatrics are reported to achieve complete radiological resolution, and cerebrospinal fluid diversion in hydrocephalic cases are not always performed. Several factors to be considered include initial consciousness and severity of neurological deficit, which were taken into account in the management of our patients. CONCLUSION: Embolization procedures may be beneficial in some pediatric arteriovenous malformations, preferably in smaller ones that undetectable by angiography. Several factors such as the consciousness and neurological deficit upon initial presentation may help in the decision making of these cases.
RESUMEN
BACKGROUND: Brain arteriovenous malformations (AVMs) are complex vascular lesions composed of abnormal arteries directly connected to veins without the typical intervening angioarchitecture. Rupture rates range from 2% to 4%, with that risk increasing to 4.5% per year for those presenting with hemorrhage. Mortality ranges from 12% to 66.7% after rupture, and up to 40% of survivors suffer from permanent neurologic sequelae. Treatment commonly includes a multimodality approach consisting of a combination of microsurgery, embolization, and radiosurgery. Typically, preoperative embolization is undertaken in a staged manner several days to weeks prior to microsurgical resection. METHODS: We describe a series of 5 pediatric patients harboring intracranial AVMs who underwent embolization and resection in the same anesthetic event, an approach that has not yet been described in the literature. RESULTS: Three patients presented symptomatically, whereas 2 AVMs were discovered incidentally, and average Spetzler-Martin grade was 1.6. Average anesthesia length was 580.8 minutes, and intraoperative angiography revealed complete resection in all cases. All patients were extubated at the end of the case and were discharged and followed up with a modified Rankin Scale score of 0. CONCLUSIONS: We describe a novel approach to treatment of pediatric intracranial AVMs that is shown to be safe and feasible. A single anesthesia event allows for aggressive preoperative embolization without increasing the risk of hemorrhage in the waiting period until resection. A single anesthesia event also prevents the patients from undergoing another intubation and anesthesia and decreases the risk associated with another anesthesia in a relatively short time frame.
Asunto(s)
Anestesia General/métodos , Fístula Arteriovenosa/terapia , Embolización Terapéutica/métodos , Procedimientos Endovasculares/métodos , Malformaciones Arteriovenosas Intracraneales/terapia , Adolescente , Fístula Arteriovenosa/diagnóstico por imagen , Niño , Terapia Combinada/métodos , Femenino , Humanos , Malformaciones Arteriovenosas Intracraneales/diagnóstico por imagen , Masculino , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: Intracranial arteriovenous malformation (AVM) in children is a rare diagnosis. Little is known about factors determining AVM rupture and appropriate treatment strategies to prevent hemorrhage and associated disability. Available data suggest that children are subject to an increased risk for AVM rupture compared with adults. METHODS: In 46 pediatric patients with AVM, demographic factors, clinical presentation, angioarchitectural features, and treatment regimens as well as clinical and radiologic outcomes were retrospectively analyzed. First-line treatment option was microsurgical resection of the disease, with or without preoperative embolization. RESULTS: Twenty-four boys (52.2%) and 22 girls (47.8%) with a mean age on admission of 12.4 years (4-18 years) were included. Mean follow-up was 4 years (median, 1.5; range, 0.1-16.4). Thirty-one children presented with intracerebral hemorrhage (67.4%). Small AVMs (<3 cm) ruptured in 83.3% (n = 25) and were shown to be more prone to hemorrhage than larger ones (P < 0.01). Small AVM size (P < 0.01; odds ratio [OR], 0.12; 95% confidence interval [CI] 0.02-0.59) and exclusive deep venous drainage (P < 0.01; OR, 29.74; 95% CI, 2.45-4445.34) were independent risk factors for hemorrhage in the presented cohort. Good long-term outcome was associated with a high score on the Glasgow Coma Scale on admittance (P < 0.05; OR, 0.148; 95% CI, 0.03-0.73). CONCLUSIONS: Two-thirds of children with AVM are admitted with intracerebral hemorrhage. Microsurgical resection was successful as confirmed by radiologic studies in 95%, and 79.5% of patients presented in a good clinical condition on follow-up (modified Rankin Scale 0 or 1). Microsurgical treatment is recommended if the lesion is accessible and angioarchitectural risk factors favor definitive treatment.