A rare presentation of terminal myelocystocele associated with cervical dermal sinus tract: case report and literature review

Abstract

Purpose Terminal myelocystocele (TMC) and dermal sinus tract (DST) are uncommon forms of skin-covered spinal dysraphism, each arising from distinct embryological mechanisms. The objective of this report is to present, for the first time in the literature to our knowledge, the clinical features, diagnostic evaluation, surgical management, and detailed imaging description of this uncommon association. Case presentation We present the case of a female neonate with concomitant TMC and DST. Magnetic resonance imaging demonstrated a trumpet-shaped TMC associated with sacral osseous dysraphism and a DST extending from C7–T1 to the skin surface. Both malformations were surgically treated in a single session. The malformed distal neural tissue of the TMC was resected, and the DST was excised completely. Postoperatively, the patient developed a transient lumbar cerebrospinal fluid leak, which resolved with conservative management, and she remained neurologically intact at discharge. Histopathology confirmed malformed neural proliferation in the TMC and squamous-lined tract tissue in the DST. Discussion From an embryological perspective, the dual occurrence of TMC and DST highlights that neural tube formation can be disrupted at different stages of development in the same individual. Timely diagnosis and surgical management are critical to prevent complications. Addressing both anomalies in a single operative setting proved feasible and yielded a favorable short-term outcome. Further studies are needed to elucidate the intricate mechanisms involved.