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Bilateral Ovarian Agenesis and Bone Modeling Disease in Pre-puberty Girl With Primary Amenorrhea.
Cureus
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 PDFAcquired Madelung's deformity as a cause of recurrent monoarthritis in a young patient.
Arch Rheumatol
September 2024
Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Polyarticular juvenile idiopathic arthritis with Madelung deformity and arthritis mutilans in 18p deletion syndrome.
Rheumatology (Oxford)
November 2024
Department of Nephrology and Rheumatology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination.
Heliyon
October 2024
Department of Medicine, Niramoy Hospital, Panchagarh, Bangladesh.
Article Synopsis
- - Scheie syndrome is a rare, milder form of mucopolysaccharidosis type I, which primarily affects multiple organ systems and is rarely linked to cancer, with only one prior case of associated brain tumors reported almost 30 years ago.
- - The case presented involves a 10-year-old girl diagnosed with Scheie syndrome, who also developed a brain tumor identified through MRI as a pilocytic astrocytoma, a rare type of brain tumor found in the fourth ventricle.
- - This situation emphasizes the need for careful evaluation of children with mucopolysaccharidoses for potential brain tumors, particularly when they exhibit signs of increased intracranial pressure, as early detection can prevent serious neurological issues.
Pediatric Wrist.
Semin Musculoskelet Radiol
August 2024
Medscanlagos, Cabo Frio, Rio de Janeiro, Brazil.
Pediatric wrist injuries pose unique diagnostic challenges due to distinct bone characteristics in children and their diverse injury patterns. The dynamic development of the wrist, marked by changes in bone age and emerging ossification centers, is crucial to evaluate growth and identify potential pathologies. The skeletal composition, rich in cartilage, renders bones relatively weaker yet more elastic, impacting their susceptibility to fracture.
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