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.

Hydrocephalus in children - A rare case of pineal cavernoma and literature review.

BACKGROUND: Cavernous malformations prevalence ranges from 0.4 to 0.6% and accounts for 5-15% of all central nervous system vascular malformations. Pineal cavernomas constitute <1% of all locations published in the literature, with a total of 26 cases reported, only 5 regarding the pediatric population until 2020. Overall annual hemorrhage rate is 2.4%. Symptoms are often due to hydrocephalus and intracranial hypertension. CASE DESCRIPTION: We report a case of a 5-year-old child with visual disturbances, headache, and progressive neurologic deterioration. MR showed a lesion in the pineal region and triventricular hydrocephalus. She was submitted to endoscopic third ventriculostomy and total excision of the lesion by the infratentorial supracerebellar approach a few days later. Histopathological examination confirmed a pineal cavernous malformation. The patient returned to her normal life without any neurologic deficit and a normal development. CONCLUSION: The ideal treatment is primary lesion removal; however, due to the infrequency and because it is a curable lesion, studies seeking to deepen the knowledge of this disease are considered relevant.

Nasal Lobular Capillary Hemangioma as a Complication after an Endoscopic Transsphenoidal Gonadotrophin-Producing Pituitary Adenoma Resection.

Background Lobular capillary hemangioma is a rare benign tumor, most frequently located in the head or neck region, the nasal cavity being uncommonly affected. Its etiopathogenesis is not fully established, although traumatic and hormonal factors have been implied. Case Description A 50-year-old female patient underwent an uneventful endoscopic transsphenoidal removal of a pituitary cystic macroadenoma at our institution. Nasal packing was used in postoperative hemostasis. Histopathology was compatible with a gonadotrophin-producing adenoma. One month after the surgery, the patient presented with frequent episodes of epistaxis and a progressively growing nasal mass, which was removed endoscopically. Its pathological examination confirmed a lobular capillary hemangioma. Conclusions The authors present a clinical case combining two possible predisposing factors to the development of a nasal lobular capillary hemangioma: local traumatic injury through surgery and postoperative nasal packing and hormonal influence. This lesion is a rare complication of endoscopic transsphenoidal resections of pituitary adenomas.