engleski

Neurocutaneus melanosis - a case report

Neurocutaneus melanosis (NCM) is a rare congenital disorder. Congenital melanocytic nevi are seen on the patients skin, but there is a great possibility of melanocytic tumors on the brain, the spinal cord and leptomeninges. Prevalence is estimated at 1/50, 000-1/200, 000. Symptoms usually appear before the age of five, and can include headaches, seizures, vomiting, visual disorders, movement and learning disorders, paralysis, intellectual deficit, papilledema, and/or hydrocephalus associated with other brain malformations, such as Dandy-Walker complex and Chiari malformation of the brainstem. Congenital heart anomalies (transposition of the great arteries, ventricular septal defect), renal agenesis, skeletal malformations, lipomatosis, or hem ¡hypertrophy have also been reported. NCM is believed to result from the prenatal, abnormal proliferation of neural crest-derived melanocytes in the central nervous system, but the pathogenic mechanism is still unclear. Diagnosis is based on physical examination and neuroimaging. Unfortunatly prognosis is poor for symptomatic patients due to limited treatment, also malignancy is seen in half of the cases. Our patient, a baby girl, bom on term (GA: 40 weeks, BW: 4020 g) with giant cutaneus lesions covering the majority of her body did not display any neurological symptoms during the neonatal period. All performed laboratory tests, radiographic and ultrasound scans had been normal. The child was sent for further examination to Zagreb Clinical Hospital and MR of the brain revealed melanocytic tumors of the central nervous system. Our patient is now three months old, she is still without symptoms and thriving well. Followup is regular and genetic diagnosis abroad is in plan.

Neurocutaneus melanosis

nije evidentirano