Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations. (31st January 2018)

• Record Type: Journal Article
• Authors: Nguyen, Khoa Anh; Elnaggar, Mohamed; Gallant, Natalie M.; Tanios, Maged
• Is Part Of: BMJ case reports. Volume 2018
• Publication Date: 2018-01-31
• Subjects: genetic screening / counselling -- adrenal disorders -- respiratory medicine -- neurology -- cardiovascular medicine; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2017-222614
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : 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.