Dados do Trabalho

Título

Neurocutaneous melanosis with central nervous system invasion

RESUMO

An 18-year-old female patient with comorbid cutaneous melanosis was admitted to the emergency room reporting headaches for more than two months. After neuroimaging findings, acute hydrocephalus was observed and an emergency external ventricular shunt was performed. Therefore, endoscopic third ventriculostomy approach was performed for arachnoid biopsy of the pre-pontine cistern, followed by septostomy. In the biopsied pathological analyses, the presence of melanocytic cells was then confirmed. In the immediate postoperative period, there was clinical improvement, however, six months later there was decompensation of condition, with reduced visual acuity, with failure of the third ventriculostomy and the need for a new bypass - however, due to the presence of disseminated skin lesions in the abdominal region, it was then ventriculoatrial shunt was performed by puncture, resulting in clinical improvement. One year after this last event, the patient developed tetraparesis with plural predominance. The entire central nervous system was then reinvestigated, where several syringomyelia and spinal cord injuries were identified. After that, the patient entered palliative and exclusive care, however, thirty days later, she died.
Neurocutaneous melanosis is a rare syndrome that is associated with a cutaneous manifestation and even more rarely invades the central nervous system. This condition can evolve in a benign or malignant form, therefore, when presented early in life, it is associated with a high mortality rate. Although skin lesions pose a risk of melanoma, the most likely source of morbidity and mortality comes from "benign" melanocytic proliferation to central nervous system, as presented here. Common neurologic manifestations usually arise in the first few years of life, however, continued melanocytic proliferation can lead to other findings, as discussed here.
This way, the present report discussed the clinical history of a young woman with the rare form of neurocutaneous melanosis with evolution to the brain and spinal cord central nervous system. The description of the clinical history of rare conditions enriches knowledge and makes it possible to guide other diagnostic and therapeutic approaches.

Palavras Chave

neurocutaneous melanosis . central nervous system. rare syndrome