This case report presents a hydroptic trisomy 21 fetus affected by lymphatic dysplasia with no other malformations. Our studies using CD31, CD34, smooth muscle actin, desmin, and D2-40 antibodies immunohistochemistry confirm the diagnosis of severe pulmonary lymphangiectasia associated with lymphangiectasia ih the mediastinum and small bowel.
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Respir Res
November 2024
Center for Pulmonary Medicine, Department of Pneumology, Mainz University Medical Center, Mainz, Germany.
Rev Esp Patol
October 2024
Servicio de Anatomía Patológica, Hospital Universitari i Politècnic La Fe, València, Spain.
Vet Pathol
November 2024
Pathology Sector and MULTILAB, Department of Clinic and Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Arch Bronconeumol
September 2024
Pathology Department, Royal Liverpool University Hospital, United Kingdom.
Key Clinical Message: Rare yet significant, this case sheds light on the uncommon presentation of Waldmann's disease in adults, showcasing the diagnostic challenges it poses. A multidisciplinary approach, integrating clinical, endoscopic, histological, and radiological evaluations, is crucial for accurate diagnosis and management. Further research is needed to deepen our understanding of this complex disorder.
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