A clinico-pathologic presentation of a 23-year old-female with lymphangioleiomyomatosis and Wilm's tumor.

Lymphangioleiomyomatosis (LAM), is an uncommon, progressive, cystic lung disease which predominantly affects young women of childbearing age. Our patient is a 36-year-old female diagnosed with LAM by open lung biopsy in January 1995. Her past history included a spontaneous left-sided pneumothorax in June 1994 which required chest tube for resolution. The last episode occurred on October. 2002. A chest CT scan at this time presented multiple cystic lesions. Followup with pulmonary function studies every 6 months since 1997 have shown a decrease in force expiratory volume in 1 second (%FEV 1) from 100% to an actual of 53%. The force volume capacity (%FVC) decreased from 105% to 85%, with a FEV1/FVC ratio of 49%. The patient's past medical history also includes a Wilm's tumor, resulting in left nephrectomy at age 6, left adnexal abscess requiring surgery in 2002, complicated with iliac and femoral vein thrombophlebitis and left iliac artery stenosis. A small pericardial effusion occurred in 2003, which resolved spontaneously. Osteoporosis of the spine was documented with a T score of -4.9. A hysterectomy was performed during her first gestation in 1992 due to the presence of ruptured ovarian cysts. She required blood transfusions during this intervention, acquiring chronic hepatitis C infection. She has two brothers and three sisters. One brother and one sister have bronchial asthma; her paternal grandfather had stomach cancer and her grandmother was diagnosed with type II diabetes mellitus. No family history of pulmonary disorders was identified. The chest CT scan showeds many small lung cavities compatible with moderate LAM. Our patient is one of three patients living in Puerto Rico who is currently followed by the NIH sponsored LAM registry.