Neurocutaneous melanosis is associated with tethered spinal cord.

Purpose: Neurocutaneous melanosis (NCM) is a rare congenital disorder occurring in children born with multiple or large congenital melanocytic nevi (CMN) in association with melanocytic deposits in the leptomeninges. Multiple associations between NCM and other syndromes or neurologic abnormalities have been reported. Of note, there exists a possible association between NCM and tethered cord (TC).

Methods: We retrospectively reviewed charts and films of all patients with the diagnosis of NCM at the Children's Hospital of Pittsburgh (CHP) from August 2002 to present.

Results: Five children met the criteria for NCM at our institution over a 12-year period. Apart from the melanocytic deposits, one or more additional spinal abnormalities were identified in all children. Three children had radiographic evidence of a low-lying conus medullaris, two of which also demonstrated lipomatous infiltration of the filum terminale, consistent with a tethered cord (TC).

Conclusions: Clinical features of NCM include dermatologic and neurologic manifestations. To date, this is the first series to note an association between NCM and TC. While nearly all recent series of NCM patients advocate early MRI of the neuroaxis, we recommend screening imaging of the spine on children with possible NCM regardless of the locations of CMN.