Spine MRI Findings in a Patient With Tuberous Sclerosis: A Case Report—Part I

Stošić-Opinćal, Tatjana; Perić, Vesna; Lilic, Gordana B.; Gavrilović, Svetlana; Milakovic, Branko; Grujičić, Danica

doi:10.1097/01.brs.0000157412.32817.aa

Cited by 8 publications

(3 citation statements)

References 7 publications

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“…SBLs of the axial skeleton are frequent manifestations related to TSC (Avila et al, 2010;Brakemeier et al, 2018;Komar, Gabrielsen, & Holt, 1967) although they are not considered diagnostic criteria. They are best detected by chest CT (Avila et al, 2010) for assessing pulmonary manifestations, but may also be found in plain films (Komar et al, 1967), magnetic resonance imaging (MRI) (Stosic-Opincal et al, 2005), or bone scintigraphy (Song, Zhang, & Zhang, 2013).…”

Section: Bone Lesionsmentioning

confidence: 99%

“…As SBLs usually do not produce symptoms, patients do not usually undergo biopsy, and genetic analysis of TSC1/TSC2 has not been performed yet in any of these lesions, so it is not known if they follow a second-hit model, as other lesions in TSC (Crino, Nathanson, & Henske, 2006). CT is the preferred diagnostic modality for assessing sclerotic bone lesions in TSC (Avila et al, 2010;Boronat, Barber, & Thiele, 2017;Brakemeier et al, 2018) although they may also be detected by MRI (Boronat, Barber, Pargaonkar, Chang, & Thiele, 2016;Stosic-Opincal et al, 2005).…”

Section: Bone Lesionsmentioning

confidence: 99%

“…Patients with TSC present frequently with tumors, and the finding of multiple sclerotic lesions in the spine may lead to the wrong diagnosis of osteoblastic metastases in some cases (Pui, Kong, & Choo, 1996), particularly if the clinical manifestations of TSC are mild or TSC has not been diagnosed yet. Moreover, the posterior aspects of the vertebral bodies, which also account for typical sites of spine metastases in adults (Stosic-Opincal et al, 2005), are the main location of SBLs in TSC. CT and MR imaging characteristics may help in differentiating these entities (Avila et al, 2010;Boronat et al, 2016;Rodallec et al, 2008).…”

Section: Bone Lesionsmentioning

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: Bone Lesionsmentioning

confidence: 99%

Section: Bone Lesionsmentioning

confidence: 99%

Section: Bone Lesionsmentioning

confidence: 99%

See 1 more Smart Citation

Less common manifestations in TSC

Boronat

Barber

2018

American J of Med Genetics Pt C

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Sclerotic bone lesions in tuberous sclerosis complex: A genotype–phenotype study

Boronat

Barber

Thiele

2017

American J of Med Genetics Pt A

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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. Sclerotic bone lesions have been reported as frequent findings in TSC although they are not considered diagnostic criteria. The objective of this study is to characterize sclerotic bone lesions detected by chest CT in a large cohort of adult TSC patients and to correlate with genotype. Chest CT scans of 92 adult patients with a definite clinical diagnosis of TSC were reviewed. Sclerotic bone lesions were found in 82 cases (89%) and affected mainly the posterior vertebral elements. Patients without bone lesions had negative mutational studies of TSC1/TSC2 in 86%. Awareness of these lesions in TSC is important to avoid misdiagnosis with osteoblastic metastases.

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