Background Ovarian germ cell tumors are the most common ovarian malignancies in children. Because these patients have a notable risk of developing metachronous bilateral tumors or recurrences, maximizing the preservation of ovarian tissue during initial surgery is critical to protecting future fertility and endocrine function. Objective A previously healthy 8‐year‐old girl underwent emergency laparotomy for ovarian torsion, resulting the right oophorectomy, with histopathology confirming a mature teratoma. Sixteen months later, a contralateral ovarian mass was detected and treated with ovarian‐sparing excision, also diagnosed as a mature teratoma. At age 10 (10 months after the second excision), she was found to have an 8 cm pelvic tumor and elevated α ‐fetoprotein. Magnetic resonance imaging (MRI) showed complex solid and cystic components suggestive of a malignant germ cell tumor, with no metastases on computed tomography/MRI. The mass was removed intact at exploratory laparotomy, yielding a diagnosis of Fédération Internationale de Gynécologie et d′Obstétrique (FIGO) Stage 1A ovarian yolk sac tumor. She was discharged after completing combination chemotherapy. Currently, she is 16 years old and being managed with hormone replacement therapy. Conclusions The presented case highlights a disadvantage of overzealous oophorectomy. Detorsion of the seemingly necrotic ovary followed by second‐look surgery could have preserved some ovarian function.
Introduction HSPG2 ‐related dyssegmental dysplasia (heparan sulfate proteoglycan 2) is an extremely rare and severe autosomal recessive skeletal dysplasia. The low incidence and the overlapping features with other types of lethal skeletal dysplasia represent the main challenges in diagnosis. Early diagnosis is essential and can be achieved by ultrasound examination and genetic analysis. This report describes a case of HSPG2 ‐related dyssegmental dysplasia, Silverman–Handmaker type (DDSH) diagnosed prenatally through a combination of detailed ultrasound imaging and subsequent genetic analysis. Case Presentation A 21‐year‐old pregnant lady (G2P1) was referred to our center at 17‐week gestation upon the detection of severe shortening of fetal limbs. Detailed ultrasound examination revealed small for gestational age, and specific craniofacial features such as severe micrognathia, short neck, microcephaly, prominent eyes, and occipital encephalocele. Other abnormalities were detected in extremities in the form of bowing of lower limbs, severe tetramicromelia, and upper limbs in a fixed flexion. Amniocentesis for whole exome sequencing was performed. It showed a homozygous pathogenic variant in the HSPG2 gene (c.11565+1G>A), a result consistent with the genetic diagnosis of autosomal recessive HSPG2 ‐related DDSH. Medical termination was performed based on the decision of parents. Parents signed a written consent for the publication of this case report. Discussion Findings of this report support the growing evidence of the phenotypic spectrum and genetic underpinnings of the lethal disorder of HSPG2 ‐related DDSH, emphasizing the importance of early and accurate diagnosis for optimal patient care. DDSH can be diagnosed prenatally using fetal ultrasound as early as 13 weeks. Radiographic assessment and molecular analysis of the HSPG2 gene are essential for confirming the prenatal diagnosis. Accurate diagnosis enables appropriate healthcare delivery and facilitates informed reproductive decision‐making, including prenatal diagnosis and preimplantation genetic testing in future pregnancies.
Introduction Uterine incarceration is a rare and frequently underrecognized obstetric complication caused by persistent retroversion of the gravid uterus. Because clinical manifestations are often nonspecific, diagnosis may be delayed, increasing the risk of maternal and fetal complications. Imaging, particularly magnetic resonance imaging (MRI), may be essential when ultrasound findings are inconclusive. Case Presentation A 37‐year‐old multigravida with a history of recurrent pregnancy loss presented at 16 weeks′ gestation with acute urinary retention. Clinical examination raised suspicion for uterine incarceration. MRI confirmed the diagnosis by demonstrating a retroverted gravid uterus impacted within the posterior pelvis, associated with elongation and anterior displacement of the cervix and compression of the lower urinary tract. Prompt bladder decompression and successful uterine repositioning were performed, with subsequent resolution of symptoms and favorable maternal‐fetal evolution. Discussion This case highlights the importance of correlating clinical and imaging findings in pregnant patients presenting with acute urinary symptoms. MRI was decisive in clarifying pelvic anatomy and establishing the diagnosis when sonographic evaluation was limited. Early recognition of uterine incarceration enables timely intervention and may reduce the risk of obstetric and urological complications, contributing to improved maternal‐fetal monitoring and management.
Background Neural tube defects (NTDs) are congenital developmental anomalies resulting from incomplete neural tube closure during early embryonic development. They present a wide range of clinical manifestations along the craniospinal axis. Objective With only 6.2% of Lebanese women of childbearing age taking folic acid tablets during the adequate period, it is primordial to shed light on cases of NTDs in Lebanon. This case series presents four cases of NTDs that deviate from the conventional “zipper closure” model of neural tube development, aligning more with the modern multisite closure approach. This case series showcases the consequences of inadequate intake of folic acid prior to conception in addition to delayed prenatal diagnosis. The four cases are presented in accordance with CARE reporting guidelines. Methods The study presents four case reports of NTDs, including iniencephaly, anencephaly, encephalocele, and spina bifida. Each case details the clinical presentation, diagnostic findings, and outcomes. Results The cases demonstrate various manifestations of NTDs: (1) a case of iniencephaly with hydrocephalus and spina bifida in a 32‐week fetus, (2) a case of anencephaly in a 34‐week fetus, (3) a case of encephalocele in one fetus of diamniotic dichorionic twins at 37 weeks, and (4) a case of closed spina bifida diagnosed at 36 weeks. Discussion The article explores the embryology, classification, and epidemiology of NTDs. It discusses factors that can contribute to NTDs. We also note the limited prenatal follow‐up and care in vulnerable populations in Lebanon. Genetic and environmental factors are also discussed, with a particular focus on the role of folic acid and its metabolism. Conclusion This case series highlights the diverse presentations of NTDs. It further showcases the importance of early diagnosis and management. It also emphasizes the need for folic acid supplementation and the consideration of multiple etiologies in the prevention and understanding of NTDs.
Isolated torsion of the fallopian tube is a rare cause of acute abdomen in women of reproductive age, with an estimated annual incidence of approximately one per 1.5 million women. Its occurrence during pregnancy is rarer still, with fewer than 50 cases published. We present a 25-year-old primigravida at 27+6 weeks of gestation who was admitted to Farwaniya Hospital, Kuwait, with persistent right iliac fossa pain refractory to conservative management, associated with nausea and dysuria, on a background of recurrent urinary tract infection. Laboratory investigations showed leucocytosis and mild anaemia. Transabdominal ultrasound with colour Doppler identified a small simple right adnexal cystic lesion with preserved ovarian vascularity, and pelvic magnetic resonance imaging demonstrated an encysted fluid collection in the right iliac fossa of probable adnexal origin, together with a nondistended, normal-appearing appendix showing no features of inflammation. Following failure of conservative treatment and after counselling of the patient and her husband, diagnostic laparoscopy was performed. The right fallopian tube was gangrenous, twisted repeatedly upon itself and configured as a true knot, and salpingectomy was performed. Both ovaries and the appendix were macroscopically normal. Histopathology confirmed haemorrhagic infarction with epithelial necrosis of the tubal mucosa. The postoperative course was uneventful and the pregnancy continued to term, with spontaneous vaginal delivery of a healthy female neonate at 40+3 weeks of gestation. This case illustrates the diagnostic difficulty of isolated tubal torsion in pregnancy, in which urinary symptoms and non-specific imaging readily divert attention towards pyelonephritis, and supports laparoscopy as a safe and definitive diagnostic and therapeutic option in the second trimester. The intraoperative finding of a true knot is unusual and is documented here with annotated operative imaging.
