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INTRODUCTION AND IMPORTANCE: Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, and syndactyly. Prenatal diagnosis of this condition can be challenging. This case report highlights the importance of recognizing characteristic ultrasound findings for timely diagnosis and genetic counselling. CASE PRESENTATION: A 37-year-old, gravida 1, para 0 woman underwent a routine third-trimester ultrasound at 31 weeks gestation. The examination revealed significant hydramnios, bilateral hand syndactyly, foot abnormalities, and an unusual head shape with a prominent forehead, flat occiput, hypertelorism, and low-set ears. These findings raised suspicion for Apert syndrome. Subsequent molecular analysis confirmed a mutation in the FGFR2 gene, confirming the diagnosis. Three-dimensional (3D) ultrasound imaging was utilized to provide the parents with a clearer understanding of the foetal anomalies, aiding in their decision-making process. Given the high risk of impaired intellectual development and the complexity of its management, the pregnancy was terminated at 33 weeks' gestation. CLINICAL DISCUSSION: This case emphasizes the role of comprehensive prenatal ultrasound in identifying potential foetal anomalies, even in the absence of prior risk factors. Characteristic sonographic findings, such as craniosynostosis, syndactyly, and hydramnios, should raise suspicion for the diagnosis, even in the absence of family history. Molecular confirmation through FGFR2 gene testing is essential for definitive diagnosis and informed genetic counselling. CONCLUSION: While Apert syndrome is rare, recognizing its characteristic sonographic features can facilitate timely diagnosis. The use of 3D ultrasound imaging can be invaluable in enhancing parental understanding and facilitating informed decision-making.
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INTRODUCTION AND IMPORTANCE: Placenta accreta spectrum in the first trimester is a rare but life-threatening condition. Its diagnosis and management remain challenging due to the lack of diagnostic criteria and therapeutic guidelines. This case report emphasizes the importance of early diagnosis of first trimester placenta accreta to perform fertility-sparing management. CASE PRESENTATION: A 29-year-old gravida 2 para 1 woman, with history of cesarean delivery, presented with abnormal uterine bleeding. On physical examination, she had minimal vaginal bleeding with normal haemodynamic parameters. An endovaginal ultrasound revealed a non-viable fetus and a low implanted gestational sac. Cesarean scar pregnancy (CSP) was suspected. The patient underwent an ultrasound-guided uterine dilatation and curettage, complicated with massive bleeding. Before an emergency laparotomy was carried out, bleeding was controlled with a Foley catheter balloon. Conservative management was performed with bilateral hypogastric artery ligation followed by the placenta accreta niche resection. Pathology confirmed first-trimester placenta accreta. CLINICAL DISCUSSION: Placenta accreta spectrum disorders can occur even in the first trimester. Traditionally, hysterectomy has been the treatment of choice, but conservative management is possible with careful case selection and monitoring. Careful preoperative planning, including multidisciplinary consultation, is key to improving maternal outcomes. Maintaining high index of suspicion for placenta accreta spectrum disorders, and early diagnosis through ultrasonography, is crucial in the first trimester to perform fertility-sparing surgical management. CONCLUSION: Placenta accreta spectrum incidence is increasingly rising. First-trimester placenta accreta should be suspected in high-risk situations. Conservative management can be offered in selected cases.
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INTRODUCTION AND IMPORTANCE: Uterine perforation and bowel injury are rare but potentially life-threatening complications of surgical abortion. Early diagnosis results in easier management and better prognosis. We report here a case of a 39-year-old presented with peritonitis secondary to traumatic bowel perforation after second-trimester surgical abortion. CASE PRESENTATION: A 39-year-old Gravida 3 Para 2 presented with acute abdominal pain two days after second trimester induced abortion. On physical examination, the patient was febrile and hypotensive with diffuse abdominal tenderness. Emergency abdomino-pelvic-CT showed generalized peritonitis with pneumoperitoneum. The patient underwent an emergency laparotomy. Per operative exploration revealed a perforation of the fundus of the uterus and the sigmoid portion of the large intestine, resulting in stercoral peritonitis. We proceeded with thorough cleansing of the abdominal cavity with physiological serum, followed by partial colectomy including the perforated sigmoid and a Hartmann's procedure. The patient was admitted to the post-operative intensive care unit for 18 days and discharged on day 27 after the surgery. Intestinal continuity restoration was performed six months after the surgery. CLINICAL DISCUSSION: Given the severity of second trimester pregnancy termination complications, efforts should be made to promote contraception and medical first-trimester pregnancy termination. Any unusual symptom after surgical induced abortion should lead to suspect uterine perforation. CONCLUSION: Uterine perforation during induced abortion is usually asymptomatic and can generally be managed conservatively. However, bowel injury may result in peritonitis, requiring immediate laparotomy and resection of perforated bowel. CT-scans can help diagnose this rare complication.