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Kalayjyan et al. http://dx.doi.org/10.36472/msd.v10i3.894
201
Medical Science and Discovery, 2023; 10(3):201-203
A case of Mullerian choristoma in lipomyelocele
Andronik Ishkhan Kalayjyan1, Avetis A. Kirakosyan1, Emma S
Maghakyan1*
1 Astghik Medical Center, Dept. of Neurosurgery, Yerevan, Armenia
* Corresponding Author: Emma S Maghakyan E-mail: emmamaghaqyan96@gmail.com
ABSTRACT
Objective: Müllerian choristoma associated with spinal dysraphism is a rare diagnosis.
Case:
We present a case of heterotopic fallopian tube tissue found in a lipomyelocele.
The patient, a 19-year-old woman, complained of swelling and pain in her lower back.
Magnetic resonance imaging revealed spina bifida occulta at L3, tethered cord, and L3
lipoma. L3 - L4 laminectomy was performed, and the lipoma was removed. Histological
examination revealed the presence of ectopic fallopian tube tissue within the lipoma.
Keywords: Müllerian choristoma, lipomyelocele,
Case Report Article
Received 23-02-2023
Accepted 27-02-2023
Available Online: 25-02-2023
Published 30-03-2023
Distributed under
Creative Commons CC-BY-NC 4.0
OPEN ACCESS
INTRODUCTION
A choristoma is a benign, tumor-like growth of microscopically normal tissue that develops
in an abnormal location (1). Lipomyelocele is a type of lipoma that is associated with spina
bifida and extends through a defect in the spinal cord. In this report, we present an unusual
case of a 19-year-old woman who was diagnosed with Mullerian choristoma in association
with spinal dysraphism, spina bifida occulta at L3, tethered cord, and lipomyelocele. At the
time of writing this text, there were fewer than 10 similar cases reported in the literature.
(2)
CASE
A 19-year-old woman presented with a soft swelling in the lumbar region of her spine,
which she had noticed since childhood. She also complained of low back pain, which
worsened while walking. She did not have a history of any neurological deficits, and her
menstrual history was normal. Upon physical and neurological examinations, there were no
notable abnormalities, and routine laboratory tests were within normal ranges.
Further imaging tests were conducted, including a 1.5 Tesla MRI with IV contrast of the
lumbo-sacral region of the spine. The MRI revealed spinal dysraphism, which is a
congenital abnormality characterized by incomplete closure of the neural tube, at the level
of L3 vertebra (
Figure 1
). Additionally, there was a tethered cord, which occurs when the
spinal cord is abnormally attached to the surrounding tissue, and an extradural lipoma that
was communicating with the subcutaneous fatty swelling. These findings were consistent
with an extradural lipomyelocele.
The patient underwent surgery, which involved a laminectomy at L3 and L4 and removal
of the lipoma. The surgical specimen consisted of two pieces that measured 6.5 x 4 x 2 cm
in total. Histological sections of the specimen showed skeletal muscles and mature adipose
tissue with cyst-like structures that were lined with a single layer of columnar epithelium
(
Figure 2).
Immunohistochemical examinations were performed, and the results showed that the
epithelial cells had a moderate positive nuclear reaction for PAX8 and an intensive
membranous reaction for CK7. The proliferative activity of the epithelial cells was low,
and Ki67 labeled only 0.5-1% of the cells. The epithelial cells were negative for CK20. The
overall histological picture and the results of the immunohistochemical examinations were
consistent with the presence of ectopic fallopian tube tissue (i.e., ectopic tissue from the
Mullerian compartment) within the soft tissues.
The patient recovered well after the surgery, and there were no postoperative
complications. She was discharged from the hospital without pain.
Kalayjyan et al. http://dx.doi.org/10.36472/msd.v10i3.894
202
Medical Science and Discovery, 2023; 10(3):201-203
Figure 1:
Figure 1 shows a 1.5 Tesla MRI with IV contrast of the lumbo-sacral region, revealing spinal dysraphism, spina
bifida occulta at the level of the L3 vertebra, a tethered cord, and an extradural lipoma communicating with subcutaneous
fatty swelling.
Figure 2:
Histological and immunohistochemical examinations of the specimen showed the presence of ectopic fallopian
tube tissue, which is a type of ectopic tissue from the Mullerian compartment, within the soft tissues.
Kalayjyan et al. http://dx.doi.org/10.36472/msd.v10i3.894
203
Medical Science and Discovery, 2023; 10(3):201-203
DISCUSSION
The Mullerian ducts play a crucial role in the development of
the urogenital system, giving rise to the uterus, uterine tubes,
cervix, and the upper third of the vagina in females, under the
influence of Anti-Mullerian Hormone (AMH). The
development of the Mullerian ducts is tightly regulated by
various signaling molecules and gene expression, including
EMX2, HOXA13, PAX2, LIM1, and Wnt. These genes are
also involved in the development of heterotopic sites, which
can lead to the formation of Mullerian choristomas.
Spina bifida is a type of congenital malformation that occurs
due to incomplete closure or formation of the embryonic
neural tube, resulting in the splitting (bifid) of the spinal
column (5). During primary neurulation, the ectoderm layer
above the notochord undergoes proliferation to form the
neural plate. The neural folds subsequently elevate from the
lateral edges of the neural plate, ultimately approaching one
another in the midline and fusing to create the neural tube.
During embryonic development, the process of neurulation
involves the proliferation and elevation of the neural plate,
which eventually fuses to form the neural tube. This process
begins in the cervical region and progresses in both the
cephalic and caudal directions. Below L-2, the spinal
segments are formed by secondary neurulation. After neural
tube closure, the epithelial ectoderm separates from the neural
ectoderm through disjunction. The epithelial layers then fuse
to form the skin covering the neural tube, while mesenchyme
migrates between the neural tube and skin to create the
meninges, neural arches of the vertebrae, and paraspinal
muscles. In the third month of development, the spinal cord
extends the entire length of the embryo. However, if there are
any abnormalities in these developmental stages, a spinal
dysraphism, or defect in neural tube closure, can occur (6).
While the exact cause of Mullerian choristomas is not fully
understood, one hypothesis is that they result from
misplacement of Mullerian duct tissue during embryonic
development. Normally, the Mullerian ducts migrate towards
the urogenital sinus to form the female reproductive tract.
However, if some of the Mullerian duct tissue becomes
misplaced and ends up in the caudal neural tube, it could
explain the presence of Mullerian tissue in this location (7).
This theory is supported by studies that have identified
Mullerian-like tissue within spina bifida cysts and lipomas.
Acknowledgments: None
Conflict of interest: The authors declared no potential
conflicts of interest with respect to the research, authorship,
and/or publication of this article. This research did not receive
and a specific grant from funding agencies in the public,
commercial, or not-for-profit sectors.
Author Contributions: AIK, AAK, ESA: Study Design,
Surgical Procedures, ESA: literature review and writing:
ESA: Revision
Ethical approval: All procedures followed were in
accordance with the ethical standards of the responsible
committee on human experimentation (institutional and
national) and/or with the Helsinki Declaration of 1964 and
later versions. Informed consent or substitute for it was
obtained from all patients for being included in the study.
Written consent was obtained from each patient to use their
hospital data.
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original work is properly cited. International Journal of Medical Science and Discovery.
