Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.

INTRODUCTION: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. METHODS: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. RESULTS: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. CONCLUSION: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.

Endovascular Treatment of Brain Arteriovenous Malformations in Pediatric Patients: A Single Center Experience and Review of the Literature.

BACKGROUND: Brain arteriovenous malformations (bAVMs) are abnormal vascular connections with direct arteriovenous shunts, generally symptomatic in the adult life. However, a small number of bAVMs may manifest in pediatric patients, with higher bleeding risk and mortality rates when compared to adults. The purpose of this study is to review our experience with endovascular treatment of bAVMs in pediatric patients. METHODS: This is a retrospective analysis of all bAVMs in pediatric patients (0-18 years) who underwent diagnostic digital subtraction angiography (DSA) at our institution from January 2010 to June 2021. RESULTS: Twenty-six patients met the inclusion criteria, of which 12 underwent endovascular treatment. Treated patients had a mean age of 10.25 years and 58% were females. Complete angiographic exclusion was achieved in five (42%) patients with endovascular treatment. Five patients with residual bAVM after embolization needed adjuvant therapy with surgery (n = 3) or stereotactic radiosurgery (SRS; n = 2). Two patients are still undergoing embolization sessions. Procedure-related complications occurred in two patients (17%) and included small vessel perforation and an occipital ischemic stroke. Two patients showed bAVM recurrence on follow-up (17%) and subsequently underwent SRS (n = 1) or surgery (n = 1), both resulting in complete bAVM exclusion. All patients had a modified Rankin scale (mRS) score of 0 to 2 on follow-up. CONCLUSION: Our experience supports the effectiveness and safety of endovascular treatment of bAVM in selected pediatric patients. A multidisciplinary approach combining surgery and SRS is warranted to achieve higher complete bAVM obliteration rates. Long-term follow-up is important as these lesions may show recurrence over time, especially in the pediatric population.