A young female presents with progressive shortness of breath & cough of 7 years duration, requiring home oxygen. She had previously been worked up for her dyspnea and has repeatedly been treated for pneumothorax. Today she had a CXR and aspiration of the right pleural collection (See below). In which genetic disorder is this condition most frequently found?
A. Neurofibromatosis
B. Tuberous sclerosis
C. Down syndrome
D. Turner syndrome
E. Ataxia telangiectasia
F. Von Hippel landau
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Lymphangioleiomyomatosis (LAM) is a rare lung disease, resulting from proliferation in the lung, kidney, and axial lymphatics of abnormal smooth muscle–like cells (LAM cells) that exhibit features of neoplasia and neural crest origin.
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LAM is almost exclusively seen in adult women and occurs both sporadically and in patients with tuberous sclerosis complex (TSC), an inherited an autosomal dominant neoplastic syndrome due, in part, to mutations in the TSC1 or TSC2 gene.
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Dyspnea and cough are common lymphangioleiomyomatosis (LAM) symptoms. Less common symptoms (findings) are associated with pneumothorax and pneumoperitoneum, chylothorax and chylous ascites, and lymphedema.