1.
Proc (Bayl Univ Med Cent)
; 37(4): 662-665, 2024.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38910798
RESUMEN
Lymphangioleiomyomatosis is a rare progressive disease characterized by abnormal smooth muscle cell proliferation leading to a diffuse cystic lung disease and extrapulmonary manifestations. Most cases are caused by mutations in the TSC1 and/or TSC2 genes, which are also associated with tuberous sclerosis complex. We describe a case of sporadic lymphangioleiomyomatosis with autosomal dominant polycystic kidney disease and renal angiolipomas in a patient who tested negative for gene mutations on the TSC1 and TSC2 gene panel.