Abstract

Closed spinal dysraphism (CSD) is a congenital condition caused by a failure in secondary neurulation during embryogenesis.  CSD are associated with characteristic cutaneous stigmata often identified clinically. Rarely, such stigmata have been reported to occur with complex congenital intraspinal lipomas containing pacinian corpuscle hyperplasia. Two such cases have been reported, however, none with an acrochordon type cutaneous lesion. Herein, we present our case of an asymptomatic 8-month-old female who presented with a midline lumbosacral acrochordon-like lesion. MRI revealed a midline lipomatous lesion at S2-S3 with a fibrovascular stalk likely continuous with the acrochordon. Given the absence of neurological symptoms concerning for tethered cord syndrome (TCS), only the skin lesion was removed for cosmesis. Subsequent histopathological examination revealed numerous Pacinian corpuscles in a background of dermal collagen and subcutaneous adipose tissue. There were no features to suggest a co-existent peripheral nerve sheath lesion (such as neurofibroma). Given the spinal cord abnormalities, and the histologic features of a pure proliferation of Pacinian corpuscles, a diagnosis of the so-called “Pacinioma” was made. To the best of our knowledge, only three other cases of a complex intraspinal lipomatous lesion associated with Pacinian hyperplasia (two with cutaneous stigmata and one with a palpable mass) have been previously reported. Since further surgical exploration did not occur, it is unclear if the lesion was in fact continuous with the fibrovascular stalk/lipomatous filum terminale. This case highlights the complexity of cutaneous stigmata of CSD and the need to further characterize their association with serious pathologies like TCS.