NEUROCUTANEOUS MELANOSIS: CLINICAL AND IMAGING CHARACTERISTICS IN 7 PATIENTS

OBJECTIVE:

Describe the clinical presentation of 7 patients with diagnosis of Neurocutaneous Melanosis.

MATERIAL AND METHOD:

Retrospective and descriptive study of the clinical characteristics and outcomes of patients with NCM treated at our hospital service.

RESULTS:

Seven patients were diagnosed with NCM, 5 boys and 2 girls. Diagnosis was established within the first week of life in 5 patients, before the first year in 1, and before 10 years of age in another. The most frequent symptom was presence of melanocytic nevi (86%) (Graphic 1), most often scattered or in the thoracoabdominal (43%) region, and less often limited to the lower limbs (28%). Twenty-nine percent of patients presented with epilepsy, all of which were focal in nature and consistent with electroencephalogram findings. nti-epileptic treatment. In the MRI, 71% presented parenchymal involvement and 86%, leptomeningeal enhancement and spinal cord lesions (Graphic 2) (Figure 1 and 2). Fifty-seven percent of the patients required ventriculoperitoneal shunt to control hydrocephalus. Two of the patients were twin sisters. All the patients had characteristic skin lesions. With regards to the neurodevelopment, a general developmental delay or language impairment was observed in 60% of the patients. In 29%, the eye fundus examination was altered.

CONCLUSION:

Although NCM is rare and has wide clinical variability, awareness of the disease is essential. An interdisciplinary approach is the cornerstone to improve outcomes in this pathology.
Keywords: Neurocutaneous melanosis, melanocytic nevi, MRI, leptomeningeal enhancement