Primary Amelanotic Leptomeningeal Melanomatosis in a Child: A Rare but Severe Disease

Primary diffuse meningeal melanomatosis – a rare form of meningeal melanoma: case report

“…Therapeutic failure is mainly associated with the lack of quick diagnosis and thus with the lack of effective treatment. The symptoms of meningeal melanomatosis are uncharacteristic and occur in patients between 20 and 70 years of age (: 42 years), although a child with this disease has been described [5]. Meningeal melanomatosis affects the brain tissue in all of the cases described thus far and the spinal cord in 43% of cases.…”

Cerebellar amelanotic melanoma can mimic cerebellar abscess in a pediatric case of neurocutaneous melanosis

“…Different MRI pattern could be present in NCM patients, isolated or combined: ‐ in symptomatic patients, some authors noted an evident and spread enhancement of thickened leptomeninges surrounding the brain and spinal cord 4 ; ‐ a second pattern of meningeal involvement was reported by other authors as increased signal intensity on unenhanced T1‐w images and decreased signal intensity on T2‐w sequences, due to the paramagnetic proprieties of the melanin 38 . These findings are shown most in the anterior temporal lobes, especially in the amygdala; ‐ a third pattern was recognized in leptomeningeal melanomatosis, with the presence of amelanotic (unpigmented) tumor cells, 39 resulting in a more difficult diagnosis that is based mainly on immunohistochemistry.…”

Two cases of primary leptomeningeal melanomatosis mimicking subacute meningitis

“…Primary diffuse leptomeningeal melanomatosis (melanocytosis) is an extremely rare tumour, with the related literature primarily consisting of individual case reports. [2][3][4][5] Melanocytic lesions involving the CNS include both benign (leptomeningeal melanocytosis, melanocytoma) and malignant (leptomeningeal melanomatosis, melanoma) pathologies. 6 The signs and symptoms of these pathologies depend on the site of anatomical involvement (cerebral hemispheres, cranial nerves, spinal cord and nerve roots).…”

“…12 Most authors quote a median survival of less than one year. 3,4,11 Vemurafenib is a BRAF inhibitor that has demonstrated dramatic activity in BRAF V600E-mutated melanoma. There is a report of a patient who had melanoma with leptomeningeal melanomatosis, describing that the patient had remarkable clinical and radiological improvement after the initiation of vemurafenib.…”