71 CONGRESO AEP. Libro de comunicaciones

495 ISBN: 978-84-09-79209-2 ÁREA DE ESPECIALIDAD (MEDICINA PEDIÁTRICA)  NEONATOLOGÍA #1953 PÓSTER ELECTRÓNICO Congenital neurocutaneous melanosis Madalena Torrado Malato 1 , María Beatriz Morais 1 , Inês Azevedo Carvalho 1 , Inês Pereira Soares 1 , Pedro Simões Farinha 2 , Helena Sofia 1 , Daniela Ramos 1 1 Hospital de Vila Franca de Xira, Portugal 2 Unidade Local de Saúde, São José, Portugal INTRODUCCIÓN Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome (less than 1/20,000), non-he- reditary. It arises from an embryonic anomaly in the devel- opment of the neuroectoderm, affecting the skin and cen- tral nervous system (CNS). NCM may be asymptomatic, characterized by the presence of large or multiple congeni- tal melanocytic nevi (CMN) and evidence of neuronal mela- nosis in CNS magnetic resonance imaging (MRI); or sympto- matic (3-10% of NCM cases) associated with neurological symptoms. The prognosis of NCM is variable, however, symptomatic cases generally carry a poor prognosis, with high mortality rates in the first years of life. RESUMEN DEL CASO A female melanodermic infant born from a poorly moni- tored pregnancy, was delivered via eutocic at 41 weeks of gestation, with Apgar scores of 9/10/10 and a birth weight of 3330 g. Family history was unremarkable without con- sanguinity. At birth, a giant CMN was identified, black, with irregular borders, resembling “shorts”, affecting the abdo- men, perineum, and thighs, with hair present on the inner thigh. Multiple satellite melanocytic nevi were scattered across the body, including the scalp and right pinna. No mu- cosal melanocytic lesions were identified, and neurological examination was normal. Analytical evaluation, transfonta- nellar and abdominal ultrasounds revealed no significant abnormalities. After discharge, a cranial MRI was performed, revealing leptomeningeal melanocytosis, leading to the diagnosis of NCM. The patient is currently under multidisciplinary follow- up involving neonatology, genetics, pediatric neurology and dermatology. A multigene rasopathy panel yielded negative results. At two years of age, the child exhibits normal psy- chomotor development and without neurological symp- toms. Dermoscopy didn’t reveal lesions suggestive of prolif- erative nodules or malignancy. CONCLUSIONES Y COMENTARIOS The authors report this case due to its rarity and empha- size the importance of performing CNS MRI in children with large or multiple CMN to confirm the diagnosis of NCM early, even in the absence of neurological symptoms. Multidiscipli- nary follow-up is essential. Neurologic manifestations occur at a median age of two years and melanoma risk should be monitored.