We report this first case of synchronous cervical rhabdomyosarcoma and Sertoli-Leydig cell tumor (SLCT) of ovary with congenital absence of unilateral ovary and fallopian tube in a 16-year-old female patient. A review of the English-language literature identified only six cases of double malignancies with cervical rhabdomyosarcoma and SLCT but none of the case was associated with congenital absence of ovary and fallopian tube. When such multiple conditions involving one system occur in an individual, the possibility of single etiology arises, but beside some hypothesis, no definite link could be established in any of the cases reported.
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http://dx.doi.org/10.4103/0973-1482.139522 | DOI Listing |
Crit Care Med
January 2025
Division of Trauma, Surgical Critical Care and Emergency Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Objectives: To provide a narrative review of disordered lymphatic dynamics and its impact on critical care relevant condition management.
Data Sources: Detailed search strategy using PubMed and Ovid Medline for English language articles (2013-2023) describing congenital or acquired lymphatic abnormalities including lymphatic duct absence, injury, leak, or obstruction and their associated clinical conditions that might be managed by a critical care medicine practitioner.
Study Selection: Studies that specifically addressed abnormalities of lymphatic flow and their management were selected.
Cureus
December 2024
Department of Pediatrics, Division of Neonatology, Blythedale Children's Hospital, Valhalla, USA.
Retroperitoneal teratomas are rare neoplasms in neonates, presenting with nonspecific symptoms and variable clinical features, making diagnosis challenging. Radiological investigations, particularly fetal ultrasound and contrast-enhanced computed tomography, play a critical role in their detection. Differential diagnoses include neuroblastoma, adrenal hemorrhage, and congenital cystic lesions, which share overlapping clinical and imaging features.
View Article and Find Full Text PDFEur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFCureus
December 2024
Department of Obstetrics and Gynecology, Royal Medical Services, Amman, JOR.
Ovarian agenesis (OA) is a rare congenital condition characterized by the absence of one or both ovaries, often associated with chromosomal abnormalities, hormonal imbalances, and structural deformities. The condition is frequently diagnosed in females presenting with primary amenorrhea and delayed sexual development. This case report highlights a unique presentation of bilateral ovarian agenesis in a patient with chromosome X translocation, bone modeling disease, and primary amenorrhea.
View Article and Find Full Text PDFJ Pediatr Surg
December 2024
Department of Pediatric Surgery, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1-3, Mannheim 68167, Germany. Electronic address:
Introduction: Open repair of Congenital diaphragmatic hernia (CDH) in neonates often involves reconstruction of the abdominal wall using a patch. Data on predictors for the need of a patch and associated postoperative risks, such as infection or patch detachment, are limited. Specifically, the question regarding the ideal timepoint of patch removal remains unanswered.
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