Lymphangiomyomatosis syndrome with hyperparathyroidism: a case report

Area of Science:

• Pulmonology
• Oncology
• Genetics

Background:

• Lymphangiomyomatosis (LAM) is a rare, progressive disease affecting the lungs.
• It is characterized by the abnormal growth of smooth muscle-like cells in the lungs, thoracic duct, and lymphatics.
• LAM is associated with mutations in the TSC1 or TSC2 genes, often linked to tuberous sclerosis complex.

Observation:

• A 48-year-old woman with classical lymphangiomyomatosis experienced a rapid decline despite standard therapies.
• Pathological examination revealed extensive pulmonary, thoracic duct, and lymph node involvement.
• A mediastinal lymphangiomyoma and a renal lesion mimicking angiomyolipoma were identified.

Findings:

• The patient's lymphangiomyomatosis progressed rapidly, proving unresponsive to conventional treatments.
• Widespread involvement of pulmonary tissue, thoracic duct, and lymph nodes was confirmed.
• Unusual findings included a mediastinal lymphangiomyoma and a renal lesion with features similar to angiomyolipoma.

Implications:

• This case underscores the potential for aggressive progression and atypical presentations of lymphangiomyomatosis.
• The presence of renal and mediastinal lesions suggests a possible overlap or connection with tuberous sclerosis complex.
• Further research into the physiopathology of LAM and its relationship with genetic disorders like TSC is warranted.