Neurofibromatosis 1 and massive hemothorax: a fatal combination

Stefano D’Errico, Massimo Martelloni, Francesco Pio Cafarelli, Giuseppe Guglielmi

Research output: Contribution to journalArticle

Abstract

Type 1 neurofibromatosis (NF 1), a rare genetic disease with autosomal dominant transmission, has typical dermatologic manifestations with pathognomonic Lisch nodules, and is rarely known for vascular alterations. Among these, aneurysmal dilatation is the most common form. We report a fatal case of massive hemothorax due to a spontaneous rupture of the left pulmonary artery branch micro-aneurysm in a NF 1 patient. Indeed, spontaneous rupture of these pathologic vessels is very rare in clinical practice and the literature, but, for its potentially life-threatening complications, there is the need for it to be taken into account in differential diagnosis. The origin of bleeding was first confirmed by computed tomography angiography (CTA). The patient’s condition worsened suddenly leading to pulmonary hemorrhage and death. A clinical autopsy was required to assess the definitive cause of death.

Original languageEnglish
Pages (from-to)377-380
Number of pages4
JournalForensic Science, Medicine, and Pathology
Volume14
Issue number3
DOIs
Publication statusPublished - Sep 1 2018

Fingerprint

Hemothorax
Spontaneous Rupture
Neurofibromatosis 1
Hemorrhage
Inborn Genetic Diseases
Rare Diseases
Pulmonary Artery
Aneurysm
Blood Vessels
Dilatation
Cause of Death
Autopsy
Differential Diagnosis
Lung
Computed Tomography Angiography

Keywords

  • Autopsy
  • Micro-aneurysm
  • Neurofibromatosis type 1
  • Pulmonary artery
  • Spontaneous hemothorax
  • von Recklinghausen’s disease

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Neurofibromatosis 1 and massive hemothorax : a fatal combination. / D’Errico, Stefano; Martelloni, Massimo; Cafarelli, Francesco Pio; Guglielmi, Giuseppe.

In: Forensic Science, Medicine, and Pathology, Vol. 14, No. 3, 01.09.2018, p. 377-380.

Research output: Contribution to journalArticle

D’Errico, Stefano ; Martelloni, Massimo ; Cafarelli, Francesco Pio ; Guglielmi, Giuseppe. / Neurofibromatosis 1 and massive hemothorax : a fatal combination. In: Forensic Science, Medicine, and Pathology. 2018 ; Vol. 14, No. 3. pp. 377-380.
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