Nursel TÜRKMEN, Recep FEDAKAR, Okan AKAN, Oktan EROL, Bülent EREN

NF1 olgusunda ilginç kardiyak ve pulmoner patoloji

Adli otopsilerde nörofibramatozis (NF1) olgularına nadir olarak rastlanmaktadır. Kalp, akciğer ve pankreasında ilginç histolojik bulgular saptanan NF1 olgumuz 40 yaşında kaplıcada ölen bir erkektir. Vücudun tüm kısımlarında yaygın nörofibromlar, her iki kalça dış yan ve uyluk bölgesinde sütü kahverenginde cafe au lait deri lezyonları dışında herhangi bir bulgu saptanmadı. Otopsi incelemesinde akciğerlerde konjesyon, barsak-larda değişik bölgelerde yerleşmiş çok sayıda nörofibromlar dışında özellik izlenmedi. Mikroskobik incelemede kalpte adale liflerinde hipertrofi, endokartta kapiller damarlanma, akciğerlerde amfizematöz değişiklikler, alveol duvarlarında kalınlaşma, pnömoni ve pankreasta pankreatit bulguları olduğu görüldü. Toksikolojik incelemelerinde ise herhangi bir özellik saptanmadı. Bu çalışmada NF1 olgularında ölüm üzerine etkili olduğu düşünülen son yıllarda üzerinde çalışılan kardiovasküler ve puimoner hastalıkların patogenezini, medikolegal ve klinik açıdan anlamını tartışmayı amaçlamaktayız.

Interesting cardiac and pulmonary pathology in a NF1 case

Neurofibromatosis (NF1) cases are rarely seen in forensic autopsy practice. Our case was 40 year old man died in a Turkish bath, presented with interesting cardiac, pulmonary and pancreatic findings. In physical examination there were only wide spreaded neurofibromas and cafe au lait spots on buttocks and thighs. In the autopsy only lung congestion, numerous neurofibromas located in different segments of the bowel determined, on microscopic evaluation heart muscle hypertrophy, alveolar wall thickening, pneumonia and pancreatitis were observed. In toxicologic study no substance was detected. We aimed to discuss pathogenesis of investigated cardiac and pulmonar findings effected on death in NF1 cases in recent years in the clinical and medicolegal aspects.

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