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Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report
Ai Li, Rong Jiang, Yongxia Li1
1Yongxia Li, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Kunming Medical University, Kunming, China, yongxiali999@163.com.
Abstract:
We report on a 34-year-old woman diagnosed with tuberous sclerosis complex. The patient was admitted for respiratory manifestations, while multi-organ involvement made the diagnostic process challenging. Genetic testing revealed a novel mutation TSC1 c.2094_2110del (p.His699Ter), which expands the disease-causing variant spectrum. Our results may facilitate the disease diagnostics and help to devise genetic counseling and targeted gene therapy.
