Spinal melanoma with optic neuropathy –rare manifestation of Neurocutaneous melanosis and PET-MRI findings

• DOI: 10.1016/j.ensci.2024.100504
• Publication Date: 2024-05-14T15:48:13Z
• Authors: Dipti Baskar; Seena Vengalil; Priyanka Chakkera; Sai Bhargava Sanka; Pritam Raja; Karthik Kulanthai...; Preetham Patavardhan; Keerti Sitani; Yasha T. Chickaba...; Nupur Pruthi; Atchayaram Nalini
• Keywords: Neurological examination

Neurocutaneous melanocytosis (NCM) is a rare, sporadic neuroectodermal dysplasia characterized by the presence of large or multiple congenital cutaneous nevi and melanocytic deposits in central nervous system. Hitherto, unreported we describe case NCM with optic neuropathy spinal cord melanoma from India. A 20 year-old-lady had headache vomiting for 3 months followed consecutive profound painless visual impairment. Visual acuity was counting fingers at 1 m distance both eyes normal fundus. There were no symptoms involvement. Clinical examination showed small to over face body. Muscle power normal. Tendon reflexes exaggerated. evoked potential bilateral prolonged P100 latency (Right eye - 144 msec; Left 151 msec). Brain MRI revealed leptomeningeal enhancement brainstem, cerebellum, oculomotor facial-abducent nerve complex without spine extensive dorsal thoracic epidural lesion extending along entire segment compression. Positron Emission Tomography (PET) imaging Fludeoxyglucose F18 (FDG) avidity D1-D12 levels cord. Biopsy suggestive meningeal melanoma. Here document rare late onset intracranial infiltration asymptomatic cord, expanding its phenotypic spectrum. Optic has not been reported earlier. Periodic screening brain recommended early prognostication identification NCM.