Spectacular Effect of Massive Facial Angiofibromas Removal With a Carbon Dioxide Laser as a Manifestation of a Tuberous Sclerosis Complex

Introduction: Tuberous sclerosis complex (TSC) is a rare, genetic disease which leads to neurological, cardiological, nephrological, ophthalmic, pulmonary and skin disorders. Case Presentation: Here, we describe a case of a 64-year-old man with the presence of giant angiofibromas located on his chin and nasolabial folds which caused inconvenience and unaesthetic appearance. All angiofibromas were removed with the use of a CO2 laser. The patient was extremely satisfied with the obtained result. No side effects were observed after a 6-month follow-up. Conclusion: Despite the fact that giant facial angiofibromas may be troublesome not only for patients but also for medical doctors, adequate CO2 laser usage with local anesthesia and control of massive bleeding is a promising treatment option for patients with TSC.

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Neuron–Glia Interactions in Tuberous Sclerosis Complex Affect the Synaptic Balance in 2D and Organoid Cultures

Cells ◽

10.3390/cells10010134 ◽

2021 ◽

Vol 10 (1) ◽

pp. 134

Author(s):

Stephanie Dooves ◽

Arianne J. H. van Velthoven ◽

Linda G. Suciati ◽

Vivi M. Heine

Keyword(s):

Tuberous Sclerosis ◽

Glial Cells ◽

Tuberous Sclerosis Complex ◽

Neuronal Development ◽

Transmembrane Proteins ◽

Significant Burden ◽

Epidermal Growth ◽

And Control ◽

Egf Signaling ◽

The Brain

Tuberous sclerosis complex (TSC) is a genetic disease affecting the brain. Neurological symptoms like epilepsy and neurodevelopmental issues cause a significant burden on patients. Both neurons and glial cells are affected by TSC mutations. Previous studies have shown changes in the excitation/inhibition balance (E/I balance) in TSC. Astrocytes are known to be important for neuronal development, and astrocytic dysfunction can cause changes in the E/I balance. We hypothesized that astrocytes affect the synaptic balance in TSC. TSC patient-derived stem cells were differentiated into astrocytes, which showed increased proliferation compared to control astrocytes. RNA sequencing revealed changes in gene expression, which were related to epidermal growth factor (EGF) signaling and enriched for genes that coded for secreted or transmembrane proteins. Control neurons were cultured in astrocyte-conditioned medium (ACM) of TSC and control astrocytes. After culture in TSC ACM, neurons showed an altered synaptic balance, with an increase in the percentage of VGAT+ synapses. These findings were confirmed in organoids, presenting a spontaneous 3D organization of neurons and glial cells. To conclude, this study shows that TSC astrocytes are affected and secrete factors that alter the synaptic balance. As an altered E/I balance may underlie many of the neurological TSC symptoms, astrocytes may provide new therapeutic targets.

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The combination of photodynamic therapy and ultrapulse carbon dioxide laser for facial angiofibromas in tuberous sclerosis complex: A case report

Photodiagnosis and Photodynamic Therapy ◽

10.1016/j.pdpdt.2022.102725 ◽

2022 ◽

pp. 102725

Author(s):

Bin Wang ◽

Yue Yao ◽

Xin Huang ◽

Liyun Zhang ◽

Dandan Peng ◽

...

Keyword(s):

Carbon Dioxide ◽

Photodynamic Therapy ◽

Case Report ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Carbon Dioxide Laser

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Combined Treatment with Electrocauterization, Carbon Dioxide Laser, and Microneedle Fractional Radiofrequency for Facial Angiofibromas in Tuberous Sclerosis Complex: A Case Report and Literature Review

Chinese Journal of Plastic and Reconstructive Surgery ◽

10.1016/s2096-6911(21)00077-7 ◽

2021 ◽

Vol 3 (1) ◽

pp. 41-45

Author(s):

Jiying DONG ◽

Shen WANG ◽

Min YAN ◽

Jing MI ◽

Ying ZENG ◽

...

Keyword(s):

Carbon Dioxide ◽

Case Report ◽

Literature Review ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Carbon Dioxide Laser ◽

Combined Treatment

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Spontaneous rupture of enormous renal angiomyolipoma in a pregnant tuberous sclerosis patient: a rare case

BMC Nephrology ◽

10.1186/s12882-020-02124-w ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Zechuan Liu ◽

Yinghua Zou ◽

Tianshi Lv ◽

Haitao Guan ◽

Zeyang Fan

Keyword(s):

Tuberous Sclerosis ◽

Rare Complication ◽

Arterial Embolization ◽

Renal Angiomyolipoma ◽

Case Presentation ◽

Selective Arterial Embolization ◽

Medical Termination ◽

The Status ◽

First Time

Abstract Background Renal angiomyolipoma (RAML) is a rare benign kidney tumour comprised of adipose tissue, smooth muscle, and blood vessels. It can cause fatal complications if it ruptures. Although there have been reports of RAMLs rupturing, it is unusual to see RAMLs rupture during pregnancy, especially in pregnant women with tuberous sclerosis (TSC). Moreover, we reported a rare complication after selective arterial embolization (SAE) for the first time, which called aseptic liquefaction necrosis. Case presentation The case is a 16-week-pregnant woman with TSC who presented with severe flank pain, which was secondary to the rupture of a large, previously unknown RAML. This was confirmed by emergency computed tomography and successfully treated with selective arterial embolization after the patient received counselling and provided prior informed written consent for medical termination of pregnancy (MTP). The patient underwent abortion 3 weeks after the SAE. The patient required drainage 2 months after the SAE because of aseptic liquefaction necrosis. During follow-up, the patient’s lesion remained stable. Conclusion RAML rupture is a rare but rather serious complication in pregnant tuberous sclerosis patients. Selective arterial embolization (SAE) should be performed immediately, and the status of the pregnancy needs to be assessed by a multidisciplinary team. We also report for the first time the rare complication of aseptic liquefaction necrosis after SAE of RAML, for which percutaneous drainage is effective.

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Long-term outcomes of resective epilepsy surgery after invasive presurgical evaluation in children with tuberous sclerosis complex and bilateral multiple lesions

Journal of Neurosurgery Pediatrics ◽

10.3171/2014.10.peds14107 ◽

2015 ◽

Vol 15 (1) ◽

pp. 26-33 ◽

Cited By ~ 32

Author(s):

Ravindra Arya ◽

Jeffrey R. Tenney ◽

Paul S. Horn ◽

Hansel M. Greiner ◽

Katherine D. Holland ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Epilepsy Surgery ◽

Tuberous Sclerosis Complex ◽

Refractory Epilepsy ◽

Full Scale ◽

Secondary Outcome ◽

Resective Surgery ◽

Class 1 ◽

Medically Refractory Epilepsy

OBJECT Tuberous sclerosis complex (TSC) with medically refractory epilepsy is characterized by multifocal brain abnormalities, traditionally indicating poor surgical candidacy. This single-center, retrospective study appraised seizurerelated, neuropsychological, and other outcomes of resective surgery in TSC patients with medically refractory epilepsy, and analyzed predictors for these outcomes. METHODS Patients with multilesional TSC who underwent epilepsy surgery between 2007 and 2012 were identified from an electronic database. All patients underwent multimodality noninvasive and subsequent invasive evaluation. Seizure outcomes were classified using the International League Against Epilepsy (ILAE) scale. The primary outcome measure was complete seizure remission (ILAE Class 1). Secondary outcome measures included 50% responder rate, change in full-scale IQ, electroencephalography improvement, and reduction in antiepileptic drug (AED) burden. RESULTS A total of 37 patients with TSC underwent resective surgery during the study period. After a mean follow-up of 5.68 ± 3.67 years, 56.8% achieved complete seizure freedom (ILAE Class 1) and 86.5% had ILAE Class 4 outcomes or better. The full-scale IQ on follow-up was significantly higher in patients with ILAE Class 1 outcome (66.70 ± 12.36) compared with those with ILAE Class 2 or worse outcomes (56.00 ± 1.41, p = 0.025). In 62.5% of the patients with ILAE Class 2 or worse outcomes, the number of AEDs were found to be significantly reduced (p = 0.004). CONCLUSIONS This study substantiates the evidence for efficacy of resective epilepsy surgery in patients with bilateral multilesional TSC. More than half of the patients were completely seizure free. Additionally, a high proportion achieved clinically meaningful reduction in seizure burden and the number of AEDs.

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Epilepsy surgery in tuberous sclerosis complex: the BC Children’s Hospital experience

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2015.88 ◽

2015 ◽

Vol 42 (S1) ◽

pp. S14-S14

Author(s):

C Wilbur ◽

C Sanguansermsri ◽

H Chable ◽

A Mihaela ◽

P Steinbok ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Epilepsy Surgery ◽

Tuberous Sclerosis Complex ◽

Chart Review ◽

Retrospective Chart Review ◽

Seizure Outcome ◽

Corpus Callosotomy ◽

Age At Surgery ◽

Second Resection

Background: Epilepsy occurs in up to 90% of patients with Tuberous Sclerosis Complex (TSC) and is often refractory to medications. Our objective was to assess the safety and outcome of epilepsy surgery in children with TSC at our institution. Methods: We performed a systematic, retrospective chart review of children with TSC who underwent epilepsy surgery at our institution. Patients were identified through epilepsy and clinical neurophysiology databases. Results: 19 patients (out of 81 with TSC) underwent surgery between 1995-2014. Median age at surgery was 4.2 (Range 1.1-15.6) years, with patients having failed a median 4 (Range 0-10) anti-seizure medications. Surgery comprised corpus callosotomy in 2 and resection of one or more tubers in 17. 2 patients had a subsequent second resection. Minor neurologic deficits occurred after 14% of surgeries. Median follow-up was 2.4 years (Range 0.3 -13.8 years) following surgery . At last follow-up, 47% were seizure free, including 2 patients off anti-seizure medication. Conclusions: Epilepsy surgery is safe and effective in carefully selected TSC patients, with the majority having a good seizure outcome. Children with epilepsy secondary to TSC should be referred for epilepsy surgery assessment.

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