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Neurofibromatosis presenting as a severe systemic vasculopathy

  • Medical Genetics
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Abstract

In a boy with neurofibromatosis type 1 (NF-1), hypertension, septic infection of an aneurysm in the deltoid muscle, bowel infarction, multiple arterial aneurysms and venous thrombosis occured within a period of 6 weeks. Histologically, vascular neurofibromatosis of the small vessels of the gut was found. This unusual occurrence of a multitude of clinical features within a few weeks was caused by vascular neurofibromatosis. Awareness of this condition in patients with NF-1 may help the paediatrician to avoid unnecessary diagnostic procedures and to initiate appropriate symptomatic therapy.

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Abbreviations

NF-1 :

Neurofibromatosis type 1

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Lehrnbecher, T., Gassel, A.M., Rauh, V. et al. Neurofibromatosis presenting as a severe systemic vasculopathy. Eur J Pediatr 153, 107–109 (1994). https://doi.org/10.1007/BF01959219

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  • DOI: https://doi.org/10.1007/BF01959219

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