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DOI 10.1136/bcr-2017-222614

Медицинская библиотека · BMJ case reports · 2018

Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations.

Nguyen Khoa Anh, Elnaggar Mohamed, Gallant Natalie M, Tanios Maged

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Аннотация

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.

Для цитирования: Nguyen Khoa Anh, Elnaggar Mohamed, Gallant Natalie M, Tanios Maged. Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations.. BMJ case reports. 2018. DOI: 10.1136/bcr-2017-222614.

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