Delayed Presentation of Tuberour Sclerosis Complex in Adult Women.
キーワード
概要
BACKGROUND
Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC.
METHODS
A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Physical examination findings revealed Shagreen patches and multiple angiomyolipomas of the skin. Computed tomography scan of the chest and abdomen was remarkable for pulmonary lymphangioleiomyomatosis and renal angiomyolipomas. Brain imaging revealed multiple subependymal nodules and cortical dysplasias. Subsequent genetic testing later confirmed pathogenic mutation in the TSC2 gene and patient was referred for Genetic counseling and further management.
CONCLUSIONS
Clinical features of TSC continue to be the principal means of diagnosis, with the inclusion of identification of a pathogenic mutation in TSC1 and TSC2 as an independent diagnostic criterion. Affected patients may present early in life with the classic triad of seizures, intellectual disability, and cutaneous angiofibromas, but some findings, notably renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM);, emerge later, placing adults with undiagnosed TSC at increased risk for morbidity and mortality. Recent advances in the treatment of TSC highlight.
