ABSTRACT
Lymphangioleiomyomatosis (LAM) represents a rare, insidiously progressive disease of the pulmonary system, marked by cystic degradation of lung tissues leading to respiratory compromise. Pulmonary LAM has been identified as being associated with tuberous sclerosis complex (TSC) in its pulmonary manifestation (TSC-LAM), a multisystem genetic disorder resulting from mutations in either the TSC1 or TSC2 genes. Herein, we describe an early 20s female admitted to the hospital with dyspnea, chest pain, hypopigmented macules, and facial fibroadenomas. She has a medical history of renal angiomyolipomas (ALMs) and pneumothoraces. Diagnosis with LAM was confirmed through high-resolution computed tomography (HRCT) scan and histopathology of lung biopsy. Whole exome sequencing analysis identified a frameshift mutation c.4504del (p.L1502Cfs*74) in the patient's TSC2 gene. This variant was de novo due to its absence in the patient's parents. This is the first report on the clinical and genetic etiology of TSC-LAM in Vietnam.
ABSTRACT
Cystic pulmonary tuberculosis is a unique form of pulmonary tuberculosis (PTB) presenting with multiple reversible cysts of the lung. Unlike the other forms, this cystic lung disease can improve with prompt tuberculosis treatments. Here we report the case of a 15-year-old girl who presented with respiratory failure and severe lung damage at hospital admission. We diagnosed her with PTB based on her positive GeneXpert result test. The patient was treated with a standard tuberculosis regimen for 6 months and recovered completely.
