Pulmonary manifestations in tuberous sclerosis complex

Gupta, Nishant; Henske, Elizabeth P.

doi:10.1002/ajmg.c.31638

Cited by 58 publications

(73 citation statements)

References 95 publications

(168 reference statements)

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“…Patients with LAM are at higher risk of spontaneous pneumothorax [18]. Second pulmonary disease is multifocal micronodular pneumocyte hyperplasia (MMPH) [19], which is a rare, benign hamartomatous subtype of type II pneumocyte proliferation [19]. In contrast to LAM, MMPH occurs both in women and in men.…”

Section: Discussionmentioning

confidence: 99%

Late-presenting congenital diaphragmatic hernia in an infant with tuberous sclerosis – case report and a review of the literature

Komarowska¹,

Matuszczak²,

Baran³

et al. 2020

polp

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Tuberous sclerosis complex (TSC) is a rare, genetic syndrome, which is characterized by the occurrence of small, benign multilocalised hamartomas. The clinical manifestation of the disease is variable, from mild to life threating. This report presents a 9-month-old male baby suffering from TSC, which was diagnosed prenatally. The child was under constant medical, multidisciplinary monitoring. This boy presented skin lesions, hamartomas in the brain and heart, and observation toward hamartoma of the right retina. The infant was admitted to the hospital because of vomiting, fever and cough. Chest X-ray showed left diaphragmatic hernia with mediastinum shift. He underwent thoracoscopic hernia repair. The postoperative period was complicated by a left pneumothorax, atelectasis and pneumonia, but finally the child recovered and remains under ambulatory monitoring. Every pathological symptom must be imaged and diagnosed, despite good general condition.

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Section: Discussionmentioning

confidence: 99%

Late-presenting congenital diaphragmatic hernia in an infant with tuberous sclerosis – case report and a review of the literature

Komarowska¹,

Matuszczak²,

Baran³

et al. 2020

polp

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“…LAM has three major presentations: dyspnoea on exertion, spontaneous pneumothorax or incidental discovery on imaging. In contrast to the sporadic form of the disease, TSC-LAM is diagnosed at an earlier stage due to active case screening [4] .…”

Section: Discussionmentioning

confidence: 99%

“…mTOR inhibitors such as sirolimus and everolimus have the potential to provide targeted therapy for patients with TSC and are approved for four distinct manifestations of the disease: giant cell astrocytoma, angiomyolipoma, lymphangioleiomyomatosis and epilepsy [5] . Sirolimus is generally favoured for TSC-LAM because of the lack of randomized studies of everolimus for this condition, but it is reasonable to assume that both drugs will have similar beneficial treatment effects [4] . The prognosis of TSC-LAM patients is poor, with previous descriptions of death secondary to respiratory insufficiency often within 5 years of the onset of symptoms.…”

Section: Discussionmentioning

confidence: 99%

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Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis

Silva

Pinto

Costa

et al. 2019

European Journal of Case Reports in Internal Medicine

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Tuberous sclerosis complex (TSC) is a rare, autosomal dominant disorder with a recognized phenotypic variability with clinical manifestations developing continuously throughout life. The follow-up of TSC patients is challenging. The authors present a case with a definite diagnosis of TSC with known skin, renal, hepatic and neuropsychiatric involvement, whose diagnosis of TSC-associated lymphangioleiomyomatosis was establish at a late stage after the patient had presented with recurrent pneumothorax. Notwithstanding, mammalian target of rapamycin inhibition therapy was initiated. LEARNING POINTS • Tuberous sclerosis complex (TSC) is a systemic and progressive disorder leading to significant morbidity, highlighting the need to closely monitor such patients. • TSC-associated lymphangioleiomyomatosis is the major pulmonary manifestation and screening at an early stage is imperative. • Managing TSC requires a multidisciplinary approach and the introduction of mammalian target of rapamycin (mTOR) inhibition therapy reinforces the need for collaboration between well-prepared health professionals.

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“…multiple organ systems, including, but not limited to, the brain (tubers and subependymal giant cell astrocytomas), heart (rhabdomyomas), kidney (angiomyolipomas), skin (fibromas), and lung (lymphangioleiomyomatosis, LAM) (11). LAM is a proliferative and destructive lung disorder that can lead to respiratory failure, is nearly exclusive to women, and arises both in TSC patients and sporadically through inactivating mutations in TSC1 or TSC2 (12). Rapamycin and its analogs can slow or shrink tumors in TSC and LAM, but tumors are not eliminated by these agents and can rapidly regrow when treatment is discontinued (13,14).…”

Section: Introductionmentioning

confidence: 99%