Primary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex

Tan, Natalie B; Tamblyn, Simon; Hinds, Rupert

doi:10.1097/mpg.0000000000001660

Cited by 2 publications

(2 citation statements)

References 5 publications

(4 reference statements)

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“…This may be related to hormonal influences, as found in other genderbiased manifestations of TSC, including LAM or renal angiomyolipomas (Geffrey, Shinnick, Staley, Boronat, & Thiele, 2014;Hoshiai, Oguma, Sato, Konishi, & Minami, 2015;Navarre & Poitras, 2014;Tan, Tamblyn, & Hinds, 2017).…”

Section: Lymphedemamentioning

confidence: 97%

“…Rapamycin has been reported to be useful for clinical amelioration of lymphedema in some cases, including a 2-year-old girl with TSC and intestinal lymphangiectasia without lymphedema in other body parts (Geffrey et al, 2014;Pollack, Geffrey, Thiele, & Shah, 2015). Primary intestinal lymphangiectasia has also been reported in a 5-weekold boy with TSC and congenital lymphedema of the right leg (Tan et al, 2017).…”

Section: Lymphedemamentioning

confidence: 99%

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Less common manifestations in TSC

Boronat

Barber

2018

American J of Med Genetics Pt C

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Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected, such as brain, skin, eye, heart, bone, kidney, or lung. Typical lesions of TSC usually are those included as major criteria, including angiofibromas, hypomelanotic macules, tubers, subependymal nodules, angiomyolipomas, cardiac rhabdomyomas, and lymphangioleiomyomatosis. However, there are many other manifestations less frequent and/or less well known, many of them not included as clinical diagnostic criteria that are part of the clinical spectrum of TSC. The focus of this review will be on these less common and less well-known manifestations of TSC. Among the rare manifestations, we will discuss some clinical findings including arteriopathy, arachnoid cysts, lymphatic involvement, chordomas, gynecological, endocrine, and gastrointestinal findings. Among the manifestations that are very frequent but much less well known, we find the sclerotic bone lesions. Although they are very frequent in TSC they have been largely overlooked and not considered diagnostic criteria, mainly because they are asymptomatic. However, it is important to know their typical characteristics to avoid misdiagnosing them as metastasis.

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Section: Lymphedemamentioning

confidence: 97%