*Correspondence: claupolloni@gmail.com.
Abstract
Case Presentation: 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.
Discussion: 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.
Final Comments: 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.
