MULLERIAN DUCT APLASIA – RENAL AGENESIS – CERVICOTHORACIC SOMITE DYSPLASIA (MURCS) ASSOCIATION WITH KLIPPEL FEIL SYNDROME (KFS): A CASE REPORT

Introduction: Mullerian duct aplasia – renal agenesis – cervicothoracic somite dysplasia (MURCS) association and Klippel Feil Syndrome (KFS) are two rare developmental disorders with prevalence rates of 0.002% and 1.7-2%, respectively.

Objective: The objective of this case report is to discuss the approach to the diagnosis and management of two rare congenital disorders presenting in one patient.

Case Presentation: A 29-year-old presented with progressive dysmenorrhea and primary infertility. The patient has short stature, webbed neck, and shoulder asymmetry. On pelvic examination, a single cervix was appreciated with a small uterus and a 5 x 5 x 4 centimeter left adnexal mass. Imaging showed a unicornuate uterus with functioning rudimentary horn. The patient underwent laparoscopic excision of functioning distal uterine remnant to remove the cause of dysmenorrhea. After treatment care included counseling regarding plan for pregnancy.

Discussion: The clinical presentation of MURCS is usually primary amenorrhea from Mullerian agenesis. In contrast, our index case had regular menstruation from a hypoplastic unicornuate uterus and dysmenorrhea from a functioning distal uterine remnant. Also, she presented with the triad of limited neck motion, short neck and low hairline, which is consistent with KFS. The diagnosis of these disorders are based on clinical presentation, imaging and karyotyping. These syndromes have favorable prognosis with option to observe postoperatively. Pregnancy may be possible with a hypoplastic uterus but with higher risk of miscarriage and preterm birth.