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Rare disease
CASE REPORT
Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations
  1. Khoa Anh Nguyen1,
  2. Mohamed Elnaggar2,
  3. Natalie M. Gallant3,
  4. Maged Tanios4
  1. 1Department of Internal Medicine, University of California Irvine School of Medicine, Irvine, California, USA
  2. 2Department of Pulmonary and Critical Care Medicine, University of California Irvine School of Medicine, Irvine, California, USA
  3. 3Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine School of Medicine, Irvine, California, USA
  4. 4Department of Medicine, Pulmonary Critical Care and Sleep Medicine, University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA
  1. Correspondence to Dr Khoa Anh Nguyen, khoaan3{at}uci.edu

Summary

Neurofibromatosis type 1 (NF1)-related lung disease is a rare but increasingly recognised, high morbidity associated feature of the condition. We present a 48-year-old male patient with NF1, who was initially admitted for a subarachnoid haemorrhage requiring aneurysmal coil embolisation. During his recovery, he developed a left-sided pneumothorax requiring chest tube placement followed by concerns for re-expansion pulmonary oedema requiring intubation. Subsequently, the patient also developed a right-sided pneumothorax requiring additional chest tube placement but did not develop right-sided pulmonary oedema. During his hospitalisation, the patient also exemplified other important NF1-related pathophysiology including pheochromocytoma, cerebrovascular abnormalities and cardiovascular manifestations. Due to his multiple comorbidities and poor prognosis, we held a goals of care discussion with the patient’s mother, and with her agreement, the patient underwent compassionate withdrawal of artificial life support.

  • genetic screening / counselling
  • adrenal disorders
  • respiratory medicine
  • neurology
  • cardiovascular medicine

https://doi.org/10.1136/bcr-2017-222614

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    Footnotes

    • Contributors KAN was involved in drafting the case report. ME, NMG and MT was involved in the clinical expertise in revising for important intellectual content. All authors contributed to the conception, acquisition of data and interpretation of data. All authors read and approved the final manuscript.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.