Introduction. Neurofibromatosis type 1 (NF1), also known as von
Recklinghausen disease, is one of the most common single-gene disorders
(mutation on chromosome 17q) and usually associated with cutaneous,
musculoskeletal and neurological disorders in humans. NF1 is generally
complicated with one or more neurobehavioral disorders or tumors located in
the peripheral nervous system such as neurofibromas, peripheral nerve sheath
tumor, pheochromocytoma, etc. In the available medical literature, the
thoracic manifestations of NF1 have been rarely described in these patients.
There are few reports about intrathoracic neurogenic tumors, kyphoscoliosis,
pneumonitis and pulmonary fibrosis in patients with NF1. Case report. A
65-year-old female was admitted to the Intensive Care Unit at the Lung Clinic
of Belgrade University Clinical Center of Serbia. The patient?s general
condition was poor with shortness of breath and present cyanosis. At the same
time, the skin changes similar to NF1 were noticed, which were additionally
documented by her medical history and diagnosed as NF1. After the application
of noninvasive mechanical ventilation and other emergency respiratory
medicine measures, the patient soon felt better. The parenchymal changes were
viewed by subsequent X-rays and CT scanning of the thorax. Conclusion. This
is a case report presenting the NF1 associated with the abnormality of lung
parenchyma established during diagnostic procedures at the Intensive Care
Unit, Clinic of Pulmonology.
Spontaneous Remission of Primary Hyperparathyroidism in a Patient with Neurofibromatosis Type 1: Case Report
