Abstract
BACKGROUND
Müllerian duct cysts (MDCs) are rare congenital anomalies. They arise from Müllerian duct remnant (MDR) and usually present as prostatic utricle cyst or pelvic mass. The authors report their experience with an extremely rare case of multiple intradural extramedullary MDCs.
OBSERVATIONS
The patient, a 31-year-old female, presented with a 6-month history of progressive numbness, weakness, and sensory deficit in her lower extremities. After neurological examination at the authors’ hospital, an MRI study was performed, revealing multiple intradural cystic lesions from C6 to L3, extending over 17 vertebral segments. Preoperative differential diagnoses included hydatid cysts, arachnoid cysts, enterogenous cysts, tuberculosis, and infection. Seven extramedullary noncommunicating transparent cysts were totally removed by surgery, with significant improvement of the neurological symptoms. Pathological examination showed MDCs.
LESSONS
This is the first reported case of compressive myelopathy caused by multiple intraspinal subdural extramedullary MDCs. Regular imaging examinations and laboratory tests do not provide valuable information for differential diagnosis. Careful preoperative cyst localization and complete microsurgical resection are essential for a good outcome.
Keywords: Müllerian, duct cyst, spinal cord compression, multiple, intraspinal, extramedullary, case report
ABBREVIATIONS: MDC = Müllerian duct cyst, MDR = Müllerian duct remnant, MIS = Müllerian inhibiting substance
Intradural extramedullary cystic lesions are uncommon causes for spinal cord compression. Previous reports have described several types of cystic pathological entities, such like arachnoid cysts, enterogenous cysts, and hydatid cysts.1–4 They usually present as space-occupying lesions that contain CSF-like fluid, involved by a membrane of different histological structure. Such cysts can occur at any level within the spinal canal, exerting compressive effects on the spinal cord or nerve roots from dorsal, ventral, or lateral aspects. Clinical manifestations are diverse and commonly including pain, motor-sensory disturbances, and sphincter dysfunction.1,3,5
Müllerian duct cysts (MDCs) are very rare congenital anomalies, with a reported prevalence of 1%–4%.6,7 They arise from Müllerian duct remnant (MDR) and usually present as a prostatic utricle cyst or pelvic mass. In women, MDCs are the most common cause of vaginal cysts and can originate from various locations in the vagina.6 Here, we describe the first reported case of multiple intradural extramedullary MDCs in the setting of a compressive myelopathy in an adult. We highlight the importance of this rare entity as a potential cause of severe spinal cord compression.
Illustrative Case
A 31-year-old female presented to our hospital with a 6-month history of progressive numbness and sensory deficit in her left leg, followed by significant weakness in her right lower limb, especially below the knee joint, in the past 2 months before admission. Neurological examination showed grade 2–3/5 weakness, increasing from the proximal to the distal portions of her right leg. Sensory levels were noted bilaterally at the T6 area on the front chest and the T10 area on the back, respectively. There was loss of response to light touch and pinprick in her left lower limb. Deep tendon reflexes and Babinski reflexes were normal. Bowel and bladder functions were intact. MRI revealed multiple intradural cystic lesions extending from C6 to L3, spanning 17 vertebral segments (Fig. 1). The lesions were hypointense on T1-weighted imaging and hyperintense on T2-weighted imaging, without enhancement, and the spinal cord was compressed from different directions at each corresponding segment. No bony erosion was found on CT and radiography of the spine. The patient used to work in a pastoral area for 3 years and was in frequent contact with farm animals, such as cows, horses, and sheep. A craniotomy was performed for the resection of an intracranial arachnoid cyst 7 years earlier.
FIG. 1.
Preoperative sagittal and axial T2-weighted spine MR images demonstrating multiple small intradural extramedullary cystic lesions, located ventral, dorsal, or lateral to the spinal cord: C6–7 of the cervical spine (A and B; arrow); T2, T3–4, T6, T7, T8, and T11 of the thoracic spine (C–I; arrows); and L2–3 of the lumbar spine (J and K; arrow).
Laboratory investigations, including routine blood and biochemistry tests, coagulation profiles, procalcitonin, erythrocyte sedimentation rate, angiotensin-converting enzyme, adenosine deaminase, tuberculosis antibodies, MycoDot, and CSF immunoglobulin levels, were all within normal limits or negative. CSF routine and biochemical analyses, as well as metagenomic next-generation sequencing, showed no abnormalities.
Based on the preoperative localization of the cysts, the patient underwent laminotomy or hemilaminectomy at the C6–7, T2–3, T6–8, T11, and L3 levels. Seven extramedullary noncommunicating transparent cysts were found and totally removed (Fig. 2A). Pathological examination confirmed these as MDCs (Fig. 2). The patient’s postoperative recovery was uneventful, with significant symptom improvement. At the 36-month follow-up, the patient remained asymptomatic, and follow-up MRI showed no evidence of recurrence.
FIG. 2.
Intraoperative and histopathological findings. Photograph (A) of an intact cyst. (B) H&E stain (B) showing the fibrocystic wall is covered with monolayer and pseudostratified epithelia with cilia. Immunohistochemical stains showing positive cytokeratin (CK) (C) in cytoplasm and epithelial membrane antigen (EMA) (D) in membrane, indicative of epithelium-derived cells on the cyst wall. PAX8 (E), WT1 (F), and estrogen receptor (ER) (G) stains are positive in the nucleus, suggesting the lesion originated from the Müllerian duct. CDX2 (H) and TTF1 (I) stains are negative, suggesting the cyst is not an enterogenic cyst. Ki-67 stain (J) showing a low positive rate of only 2% in this case. Original magnification ×200 (B–J).
Informed Consent
The necessary informed consent was obtained in this study.
Discussion
Observations
MDCs are uncommon congenital anomalies that are caused by a focal failure of regression and saccular dilatation of the mesonephric duct.8 They usually present as prostatic utricle cysts or pelvic masses in males or as vaginal cysts in females.6 To the best of our knowledge, there are currently no reported instances of intraspinal MDCs. Here we describe the first reported case of compressive myelopathy caused by multiple intraspinal subdural extramedullary MDCs.
Mesonephric ducts and paramesonephric ducts appear during the 6th week of embryogenesis and differentiate to genital organs for male or female.9 From the 10th week of embryogenesis, they start to regress when Sertoli cells secrete Müllerian inhibiting substance (MIS). Decreased production of MIS, MIS receptor defects, and inappropriate timing of production may lead to incomplete degradation, causing MDR, which is the embryological origin of MDC.10 Most MDC patients are asymptomatic. The onset of illness tends to occur between the 3rd and 4th decades of life for those who become symptomatic. MDCs usually present as midline masses between the rectum and bladder neck or prostate.11 The major symptoms include frequent micturition, urgency, urinary retention, urinary tract infection, epididymitis, infertility, constipation, perineal pains, thin stool, and intrapelvic mass.7,12 Ultrasound, CT, and MRI are the three main methods used for the imaging diagnosis of MDCs, which usually present as cystic masses of various size but without enhancement after administration of contrast medium.12
As this patient used to work in a pastoral area and had previously undergone a craniotomy, hydatid cysts, arachnoid cysts, and enterogenous cysts, as well as those commonly seen intraspinal cystic lesions, were first suspected as initial diagnoses.2–4 However, preoperative MRI and CT examinations did not provide any specific evidence for differential diagnosis. In addition, a multidisciplinary collaboration, including neurosurgery, neurology, and tropical disease doctors, was launched before surgery. A number of laboratory tests for parasites, tuberculosis, and infection were conducted, but they produced no meaningful or supporting findings. Thus, there was no consensus regarding the patient’s diagnosis before the exploratory surgery. Careful preoperative localization is very important for surgical management of intraspinal lesions. In this case, all the MDCs were accurately located on radiographs, which significantly saved operative time and reduced surgical trauma during the laminotomy. Intraoperatively, we found that the MDCs were extramedullary and did not communicate with the subarachnoid space; thus, complete microsurgical resections were easy to achieve and essential for the final good outcome.
Lessons
This article highlights a very rare case of multiple intradural noncommunicating extramedullary MDCs presenting clinically as compressive myelopathy. Regular MRI, CT, or radiography examinations are not enough to provide valuable information for differential diagnosis. Careful preoperative cyst localization and complete microsurgical resection are essential for a good outcome. It is difficult to explain multiple intradural MDCs based on embryology for compressive myelopathy since most MDCs rarely develop within the spinal canal. Although we cannot hypothesize the exact embryological basis for this occurrence, we think that, similar to enterogenous cysts, they might result from residual or ectopic tissue embedded in the spinal cord and neuroectoderm during embryogenesis.1 However, further validation at an embryological level is required.
Acknowledgments
We express our gratitude to the patient for consenting to the publication of this case.
Disclosures
The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.
Author Contributions
Conception and design: Xu, X Wang. Acquisition of data: Xu, X Wang, W Wang. Analysis and interpretation of data: all authors. Drafting the article: Xu, W Wang. Critically revising the article: Yi, X Wang. Reviewed submitted version of manuscript: all authors. Approved the final version of the manuscript on behalf of all authors: Yi. Statistical analysis: Xu, X Wang. Administrative/technical/material support: all authors. Study supervision: Yi.
Correspondence
Zhiqiang Yi: Peking University First Hospital, Beijing, China. bdyyyzq@hotmail.com.
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