Dados do Trabalho

Título

MALIGNANT TRANSFORMATION OF NEUROCUTANEOUS MELANOSIS - DISSEMINATED MELANOMA OF THE NERVOUS SYSTEM IN A CHILD: CASE REPORT

Apresentação do caso

M.C.R., Child male, 3 years old, with a history of posterior fossa malformation and delayed speech. At birth, he presented with 10 hyperchromic patches on the body, some with hair, without prior biopsy. He began to show irritability, headache, vomiting, and strabismus. A computed tomography scan revealed compression of the ventricular system. He underwent arachnoid cyst drainage and ventriculoperitoneal shunt. One month later, he developed epileptic seizures, drowsiness, worsening speech, and right hemiparesis. Cranial and neuro-axis magnetic resonance imaging, cerebrospinalfluid and Immunohistochemistry indicated neurocutaneous melanosis (NCM) with malignant degeneration and infiltration by melanoma cells. Due to the severity of the case and the patient's age, it was decided to postpone biopsy and radiotherapy and initiate immunotherapy for metastatic melanoma with nivolumab and ipilimumab for 4 cycles. Despite therapeutic attempts, the disease followed a rapidly progressive and lethal course, disseminating throughout the nervous system, coma and brain death 3 months after.

Discussão

Neurocutaneous melanosis is a rare, non-hereditary congenital syndrome characterized by congenital melanocytic nevi and meningeal melanosis or melanoma in the central nervous system. It usually manifests before the age of five and exhibits phenotypic variability. 60-70% of individuals experience seizures, hydrocephalus, developmental delay, psychiatric disorders, cranial nerve paralysis, and intracranial hemorrhage. Malignant transformation occurs in 40-60% of cases. In many cases, it is challenging to differentiate when this transformation occurs. Cerebrospinal fluid analysis shows pleocytosis, hyperproteinorrachia, and melanin cells. Brain and/or spinal magnetic resonance imaging reveals extensive leptomeningeal infiltration; the paramagnetic behavior of melanin, hyperintense in T1, suggests the diagnosis of NCM. The presence of nodular mass or plaque-like thickening, contrast enhancement, and perilesional edema predict melanoma. Currently, there are no standardized treatments for childhood cases; the proposed treatment in this case was based on the adult melanoma protocol since melanoma is rare in pediatrics. Therapeutic benefits are limited, and survival is reduced.

Comentários finais

NCM requires early suspicion and frequent patient evaluations to improve prognosis and detect malignancy. Meningeal biopsy may have diagnostic and therapeutic value, identifying genetic targets for more precise treatment.

Palavras Chave

neurocutaneous melanosis ; malignant transformation; melanoma

Declaração de conflito de interesses de TODOS os autores

No conflict of interest