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\title{COLOSSAL UTERINE LEIOMYOMA IN A ACHONDROPLASTIC FEMALE- A CASE REPORT}



\author[1]{Jyotsna Madana}%
\author[1]{Rathnamma Papanna}%
\affil[1]{Sri Devaraj Urs Academy of Higher Education and Research Medical College}%


\vspace{-1em}



  
  \date{June 13, 2024}


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\textbf{COLOSSAL UTERINE LEIOMYOMA IN A ACHONDROPLASTIC FEMALE- A CASE
REPORT}

\textbf{MADANA JYOTSNA PRIYA, RATHNAMMA P}

Department of Obstetrics and Gynaecology, Sri Devaraj Urs Medical
College, Sri Devaraj Urs Academy of Higher Education and Research
(SDUAHER), Tamaka, Kolar, Karnataka, India

\emph{INTRODUCTION:}

Uterine leiomyomas- they are the resultant smooth muscle and connective
tissue overgrowths which are the most common solid benign uterine
neoplasms . About 20-40\% of women of age group between 20-35yrs (i.e,
reproductive age) present with the uterine leiomyoma. As noted in many
studies prevalence increases in reproductive age group and is reduced in
women of menopausal age group.\textsuperscript{{[}1,2{]}}Fibroid uterus
have been classified according to their location: Submucosal,
intramural, subserosal by FIGO clinical staging. Intramural and
submucosal leiomyomas present with many symptoms, while subserosal
fibroids are often asymptomatic. The most common symptoms a lady with
uterine fibroids present with menorrhagia, dysmenorrhea, infertility,
subfertility, pelvic pain, dyspareunia and pressure symptoms resulting
in constipation, increased frequency of
micturition\textsuperscript{{[}3,4{]}.} A detailed clinical history,
physical and medical examination utrasonographic examination, computed
tomography scanning and magnetic resonance imaging are used often to
diagnose fibroids {[}5{]}. In this case study, we have aimed to present
the surgical management of a colossal uterine leiomyoma in a
perimenopausal achondroplastic female with medical comorbidities.

\emph{CASE DESCRIPTION:}

A 45-year-old perimenopausal unmarried lady presented with complaints of
mass per abdomen which for about 3 months. Mass was insidious in onset,
gradually progressive and was occupying whole abdomen, not associated
with pain. She was a known case of bronchial asthma and was on
rotahalers occasionally. She was a known case of hypothyroidism and was
on treatment. She also had a history of mitral valve prolapse since 4
years and was on treatment for the same. The patient's personal history
revealed loss of appetite, dyspnea. Her last menstrual period was 1
month back and she had no menstrual abnormalities or irregularities.
Vitals of the patient on presentation were within normal limits. On
general physical examination,she had kyphosis (FIGURE NO.1) and short
limbed dwarfism (? K/C/O Achondroplasia)(FIGURE NO. S1). Her height was
43 cm and weight was 25 kg. On palpation a solid abdominal mass of about
32 weeks gravid uterus size mass was extending from pubic symphyisis to
halfway between umbilicus and xiphisternum with smooth surface,
irregular borders and with a dull note on percussion. Tenderness was not
present. On inspection patient had a normal external genitalia.
Patient's pelvic organ examination could not be done (perspeculum and
pervaginal). The results of routine laboratory testing including a
complete blood count, serum electrolyte levels, tumor markers, tests of
liver and renal function, thyroid function tests and Pap smear, ECG,
Chest x-ray, were within normal limits 2d Echo was done which showed EF
of 60\% and with mild mitral regurgitation and mitral valve prolapse.
Magnetic Resonance Imaging Abdomen revealed a large pelvicoabdominal
heterogenous lobulated mass, approximately 20 cm \selectlanguage{ngerman}× 16 cm x 14 cm in
size, seen connected with te uterine fundus- s/o Large Uterine fibroid.
Ovaries couldn't appreciated well and were compressed peripherally due
to mass. Minimal free fluid noted in pouch of douglas. Preoperatively, a
possible large leiomyoma was suspected and the patient underwent
laporotomy. A midline vertical incision was made 1 cm below the
umbilicus extending down to 2 cm above the pubic symphysis.
Intraoperatively, an enlarged intramural leiomyoma arising from uterine
fundus and if of 32 weeks size. A multi septate mass was separated from
the lower pole of the left kidney and samples were sent for frozen
section. (FIGURE NO. S2). Bilateral ovaries visualized separately with
multicystic fluid spaces present in the broad ligament (FIGURE NO. S 3).
A total abdominal hysterectomy with bilateral salpingo-oophorectomy was
performed. After achieving hemostasis, drain was placed in the pouch of
douglas, to drain any blood for the first 24 hours postoperatively. The
drain was removed on the first postoperative day, and she was discharged
on the 8th postoperative day in excellent condition. Ceftriaxone
(Rocephine®, Roche) was applied 1 g twice a day. On histopathological
examination revealed a 20 cm × 20 cm × 15 cm, 3600-g intramural,
myomatous,cellular leiomyoma (FIGURE NO. S4)and cervix had shown
features of chronic cervicitis . bilateral tubes histology was normal
and and right fallopian tube paratubal cyst. Sections from right ovary
showed corpus albicans and with normal architecture. Sections from the
left ovary showed simple serous cyst with fibrous subepithelium.
Sections studied from lower pole of the left kidney shows features of
angiomyolipoma. Histologic signs of malignancy were not found. The final
diagnosis was a intramural uterine leiomyoma with degenerative changes
with simple serous cyst of left ovary and Angiomyolipoma of left lower
pole of the kidney.

\emph{DISCUSSION:}

Achondroplasia a multifactorial disorder of bone growth is a most common
type of short-limbed
dwarfism\textsuperscript{{[}6{]}{[}7{]}}particularly in the long bones
of the arms and legs and is characterized by dwarfism, reduced range of
motion at the elbows, big head (macrocephaly), small fingers, and normal
IQ.~The condition occurs in 1 in 15,000 to 40,000 newborns
worldwide.\textsuperscript{{[}8{]}{[}9{]}{[}10{]}}No particular race has
been documented to be more commonly affected.\textsuperscript{{[}5{]}}It
is caused by mutations in the FGFR3 gene. Most cases of achondroplasia
are not~inherited.\textsuperscript{{[}4{]}}If inherited it Inheritance
is autosomal dominant.{[}6{]}{[}7{]}.

Uterine fibroids are benign tumors that are more prevalent in
reproductive age group. many studies suggests that activated receptor
tyrosine kinases (RTKs) play a major role in proliferation of fibroids.
In Linda Yu et al study,\textsuperscript{(11)}they found that fifteen
out of seventeen RTKs activity was highly expressed in the leiomyomas,
and included the IGF-I/IGF-IR, EGF/EGFR, FGF/FGF-R, HGF/HGF-R, and
PDGF/PDGF-R gene families which was done by a phospho-RTK array
technique.

Ultrasonography is most commonly done for the initial evaluation, as it
is the least invasive and cost-effective technique. Magnetic resonance
imaging is the gold standard in ruling out the pathology. Expectant
management,medical and surgical approaches, or uterine artery
embolization are used in treating uterine fibroids. The choice of
treatment depends on the patient's age, type and severity of symptoms,
suspicion of malignancy, desire for future fertility and proximity to
menopause.Surgical approach done in management of large uterine
fibroids. This case represents a successful surgical management of a
unmarried perimenopausal patient with large uterine leiomyoma and with
many medical illness. Factors like reproductive factors, age, race,
harmones, obesity, lifestyle, environmental conditions and infection
were associated with the development of uterine
fibroids\textsuperscript{{[}12{]}.} The most common symptomatology in
women with fibroids are pelvic pain, menorrhagia, tumor bulk-related
symptoms, fatigue, loss of appetite, dyspnea. On the other hand, some
may not have any symptoms. Surgical treatment differ acoording to the
patient factors and are the following: Menorrhagia not responding to
medical therapy, suspicion of malignancy, unexplained infertility,
fibroids growing after menopause, the presence of symptoms that have a
negative effect on daily life \textsuperscript{{[}13{]}}. Transverse
vertical incision of the abdominal wall may be planned for operation.
According to the ACOG guidelines, oophorectomy should be done at the
time of hysterectomy in postmenopausal women \textsuperscript{{[}14{]}}.
She was treated a total abdominal hysterectomy with bilateral
salpingo-oophorectomy and she was discharged on the seventh
postoperative day in excellent condition. Careful pre anaesthetic
evaluation, perioperative management and multidisciplinary workup will
help in preventing morbidity and mortality associated in this kind of
cases.

\textbf{Contribution of authorship:}

Collected the data and designed the case report: Dr Madana Jyostna Priya

Contributed data and Performed the analysis: Dr Rathnamma P.

\textbf{Disclosure of interest} : Nothing

\textbf{Funding resources} : Nothing

Patient's consent: Enclosed

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\emph{References :}

1. Sparic R, Mirkovic L, Malvasi A, Tinelli A (2016) Epidemiology of
uterine myomas: A review. Int J Fertil Steril 9: 424-435.

2. Okolo S (2008) Incidence, aetiology and epidemiology of uterine
fibroids. Best Pract Res Clin Obstet Gynaecol 22: 571-588.

3. Levy BS (2008) Modern management of uterine fibroids. Acta Obstet
Gynecol 87: 812-823.

4. Evans P, Brunsell S (2007) Uterine fibroid tumors: Diagnosis and
treatment. Am Fam Physician 75: 1503-1508.

5. Parker WH (2007) Etiology, symptomatology, and diagnosis of uterine
myomas. Fertil Steril 87: 725-736.

6. Achondroplasia.~Genetics Home Reference. May
2012;~http://ghr.nlm.nih.gov/condition=achondroplasia.

7. Pauli RM. Achondroplasia.~GeneReviews. February
2012;~http://www.ncbi.nlm.nih.gov/books/NBK1152/.

8. Bacino CA. Achondroplasia.~UpToDate. November 15,
2017;~https://www.uptodate.com/contents/achondroplasia.

9. Learning About Achondroplasia.~National Human Genome Research
Institute (NHGRI). May 11, 2012;~http://www.genome.gov/19517823.

10. Defendi GL. Genetics of Achondroplasia.~Medscape Reference. May 16,
2014;~http://emedicine.medscape.com/article/941280-overview

11. Linda Yu, Katrin Saile, Carol D Swartz, Hong He, Xiaolin Zheng,
Grace E Kissling, Xudong Di, Shantelle Lucas, Stanley J Robboy, Darlene
Dixon, Mol Med. Differential Expression of Receptor Tyrosine Kinases
(RTKs) and IGF-I Pathway Activation in Human Uterine Leiomyomas 2008
May-Jun; 14(5-6): 264--275.

12. M\selectlanguage{ngerman}ülayim B (2015) Unaware of a large leiomyoma: A case report with
respect to unusual symptoms of large leiomyomas. Ann Med Surg (Lond) 4:
431-433.

13. Yavuz A, Astepe B, Terzi H, Kale A (2015) Management of uterine
giant myoma: Case report. Sakaryamj 5: 34-38.

14. American College of Obstetricians and Gynecologists (2008) Clinical
management guidelines for obstetrician-gynecologists. ACOG Practice
Bulletin 89 Washington, DC, 231-241.

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