Rhabdomyosarcoma of the genitourinary system in girls - the role of magnetic resonance imagining in diagnosis, treatment monitoring, and follow-up.

OBJECTIVES: Rhabdomyosarcoma of the genitourinary system in girls is a rare neoplasm, especially in non-dedicated centers. Our work aimed to sum up and present genitourinary rhabdomyosarcomas in girls from the radiological point of view. MATERIAL AND METHODS: We retrospectively reviewed all girls with genitourinary RMS who underwent treatment at the Institute of Mother and Child in Warsaw between 2009 and 2022. We evaluated the demographic, clinical, and pathological patient data and imaging studies. RESULTS: During the study period, ten patients presented with genitourinary RMS and underwent magnetic resonance imaging (MRI). The median age at the time of diagnosis was 2.8 years, six patients were younger than three years, and four patients were older than ten years. The most common clinical symptoms were tumor fragments protruding from the vagina/falling out of the vagina and vaginal bleeding or discharge, and the most common original location was the vagina. One hundred percent of patients had the embryonal subtype of RMS, and 100% of cases where molecular tests for PAX3/FOXO1 fusion gen status were performed had negative status. At presentation, the median tumor volume was 114 cm³. Eight patients (80%) were classified as clinical group III according to the IRS Group, and most patients (70%) were in a standard-risk group. All patients received multimodal treatment, including surgery and chemotherapy; 60% received radiotherapy. Neoadjuvant chemotherapy was the primary treatment for all our patients. In six patients (60%) with a measurable tumor mass after a biopsy, a gradual tumor volume reduction was observed after induction chemotherapy (approximately ten weeks of treatment) - all of which had a partial response (PR). All our patients (100%) responded completely to treatment. CONCLUSIONS: MRI was performed at every stage of diagnosis and treatment as well as during follow-up. It allowed for staging, monitoring of chemotherapy, and guided surgery.

Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations.

INTRODUCTION: Sprengel's deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and abnormal shoulder function. Nonsurgical management can be considered for mild cases. Surgical intervention is indicated in moderate to severe cases with the goal of improving cosmetic appearance and function. The best surgical results are obtained in children aged 3-8 years. Correct diagnosis is very important because Sprengel's deformity can be accompanied by additional abnormalities, even in mild cases, and lack of a diagnosis delays proper treatment of the child. The severity of the defect may progress, so it is important to correctly identify children with Sprengel's deformity, even those with a mild form of the defect. CASE PRESENTATION: We report a case of prenatal sonographic diagnosis of Sprengel's deformity with additional features, as yet undescribed and missed - although visible - on prenatal magnetic resonance imaging (MRI). Cesarean delivery was performed due to preterm rupture of membranes, and a postnatal MRI confirmed the unusual constellation of Sprengel's anomaly with lateral meningocele, vestigial posterior meningocele, and lipoma tethering of the cord to the dural sac at the cervical-thoracic junction. CONCLUSION: Diagnosis of Sprengel's deformity is possible with prenatal ultrasound. Asymmetry of the cervical spine, discontinuity of the vertebral arch and abnormal vertebral bodies, as well as the asymmetric position of the shoulder blades with the presence of an omovertebral bone are signs that can help diagnose the defect.

Hypertrophic olivary degeneration in a 16-year-old girl after subtotal surgery of a brainstem pilocytic astrocytoma - a case report.

PURPOSE: Hypertrophic olivary degeneration (HOD) is a unique neurological condition caused by interruption of the dentato-rubro-olivary pathway, also known as the triangle of Guillain and Mollaret. Magnetic resonance (MR) imaging is the best modality to diagnose both the degeneration of the inferior olivary nucleus and the underlying cause. CASE REPORT: We describe a case of a unilateral HOD in a 16-year-old girl several months after a subtotal excision of a brainstem pilocytic astrocytoma. Taking into account the patient's history, tumour recurrence must have been considered, but the typical location and MR morphology, as well as the time of occurrence after brainstem surgery, contributed to the diagnosis of HOD. The causative factor was the interruption of the central tegmental tract, which forms one arm of the Guillain and Mollaret triangle. Additionally, this is an interesting case of a child, who stayed in a coma for several months following brainstem surgery, but finally was discharged home with only minor neurological defects and returned to normal life. CONCLUSIONS: Hypertrophic olivary degeneration is an infrequent neurological condition, especially in the paediatric population. Nevertheless, it should be considered when interpreting late postoperative scans of children with a history of a brain tumour.