The case number 506 of Mostyn Embrey Syndrome: Imaging Studies and Ethics of Naming Syndromes

Background: Mostyn Embrey syndrome is a rare disorder associated with unilateral renal agenesis and malformations of the female reproductive tract. Delayed diagnosis is associated with serious diagnostic difficulties that may lead to inappropriate management including harmful surgery. The aim of this paper is to present imaging studies of case number 506 of the syndrome which was the first case of this rare syndrome in Iraq, and was originally reported in 2016. Ethics of naming syndromes relevant to this syndrome is discussed. Patients and methods: An 18-year-old female presented with acute abdominal pain and poor urine output associated with retention of urine; about three years after the onset of menses. The pain was radiating to the back and pelvis. Her menstrual cycles started at the age of fifteen, and were lasting seven days. Cycles were associated with normal flow. The first physician the patient consulted considered the diagnosis of uterine tumor and the need for hysterectomy, but the family of the patient consultedanother physician. Vaginal exam was performed and showed bulging left vaginal wall. The diagnosis of hematocolpos was made. A clotted blood was drained by trans- vaginal approach. Results: It was difficult to identify the two separate uteri and two separate cervices and to make a diagnosis of didelphys uterus on hysterosalpingography. Abdominal MRI showed left renal agenesis, and two uterine bodies, cervices, and vaginas with normal myometrium and endometrium (uterine didelphys), and normal ovaries. Conclusions: It is recommended that pediatricians, and pediatric nephrologists need to be aware of this syndrome to avoid unexpected presentations which may lead to delayed diagnosis and sometimes to inappropriate management. The imaging modalities that can be used to diagnose Mostyn Embrey syndrome include ultrasonography, hysterosal pingography and MRI. In this case, hysterosal pingography was not of much help. Ultrasound is affordable, non-invasive, widely available imaging modality that contributes to the accurate diagnosis of Mostyn Embrey syndrome. However, there can be difficulties in visualizing the vaginal septum on ultrasound which best shown on MRI. MRI can facilitate early diagnosis and thus help in the prevention of further complications. Syndromes in medicine are often named after the physician or group of physicians that discovered them or initially provided the full clinical picture or the best description of the syndrome. Unfortunately, Mostyn Embrey syndromes has been attributed unfairly and inappropriately to physicians other that those first described them in almost all previous papers.