Neurocutaneous melanosis (NCM) is a rare, congenital neuroectodermal dysplasia generally resulting in early death from neurological decline due to leptomeningeal involvement. Nonmeningeal CNS epileptogenic lesions presenting in later childhood in the absence of leptomeningeal disease are rare. This report summarizes a rare presentation and curative epilepsy surgery.
The authors discuss the case of a 14-year-old girl with NCM who originally presented with intractable partial-onset seizures. The MRI, PET, and SPECT studies subsequently revealed a focal epileptogenic source in the right temporal lobe. Results of video-electroencephalography monitoring concurred with the imaging findings, and a right temporal lobectomy was performed including the medial structures. Following surgery, histopathological features of the lesion included multiple scattered mononuclear cells with brown pigmentation in the amygdala specimen. The patient remains seizure free 2 years postresection, and no longer needs medication for seizure management.
This patient presented with an atypical CNS manifestation of NCM that is curable by epilepsy surgery. Her intractable epilepsy developed secondary to amygdalar neuromelanosis, which had no associated leptomeningeal melanosis, an uncommon occurrence. As evidenced by the lack of seizure activity following resection, the patient's quality of life greatly improved after neurological surgery.
Abbreviations used in this paper:CMN = congenital melanocytic nevi; NCM = neurocutaneous melanosis.
DeDavidMOrlowSJProvostNMarghoobAARaoBKWastiQ: Neurocutaneous melanosis: clinical features of large congenital melanocytic nevi in patients with manifest central nervous system melanosis. J Am Acad Dermatol35:529–5381996