MicroRNA-451 from Human Umbilical Cord-Derived Mesenchymal Stem Cell Exosomes Inhibits Alveolar Macrophage Autophagy via Tuberous Sclerosis Complex 1/Mammalian Target of Rapamycin Pathway to Attenuate Burn-Induced Acute Lung Injury in Rats

Objective Our previous studies established that microRNA(miR)-451 from human umbilical cord mesenchymal stem cell-derived exosomes(hUC-MSC-Exos)alleviates acute lung injury(ALI).This study aims to elucidate the mechanisms by which miR-451 in hUC-MSC-Exos reduces ALI by modulating macrophage autophagy.Methods Exosomes were isolated from hUC-MSCs.Severe burn-induced ALI rat models were treated with hUC-MSC-Exos carrying the miR-451 inhibitor.Hematoxylin-eosin staining evaluated inflammatory injury.Enzyme-linked immunosorbnent assay measured lipopolysaccharide(LPS),tumor necrosis factor-α,and interleukin-1βlevels.qRT-PCR detected miR-451 and tuberous sclerosis complex 1(TSC1)expressions.The regulatory role of miR-451 on TSC1 was determined using a dual-luciferase reporter system.Western blotting determined TSC1 and proteins related to the mammalian target of rapamycin(mTOR)pathway and autophagy.Immunofluorescence analysis was conducted to examine exosomes phagocytosis in alveolar macrophages and autophagy level.Results hUC-MSC-Exos with miR-451 inhibitor reduced burn-induced ALI and promoted macrophage autophagy.MiR-451 could be transferred from hUC-MSCs to alveolar macrophages via exosomes and directly targeted TSC1.Inhibiting miR-451 in hUC-MSC-Exos elevated TSC1 expression and inactivated the mTOR pathway in alveolar macrophages.Silencing TSC1 activated mTOR signaling and inhibited autophagy,while TSC1 knockdown reversed the autophagy from the miR-451 inhibitor-induced.Conclusion miR-451 from hUC-MSC exosomes improves ALI by suppressing alveolar macrophage autophagy through modulation of the TSC1/mTOR pathway,providing a potential therapeutic strategy for ALI.

Tuberous sclerosis complex combined with primary lymphedema:A case report

BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient's clinical presentation,imaging findings,and treatment.And a retrospective analysis was conducted on 14 published relevant case reports.CASE SUMMARY A 16-year-old male came to our hospital for treatment due to right lower limb swelling.This swelling is already present from birth.The patient’s memory had been progressively declining.Seizures had occurred 1 year prior at an unknown frequency.The patient was diagnosed with TSC combined with PLE through multimodal imaging examination:Computed tomography,magnetic resonance imaging,and lymphoscintigraphy.The patient underwent liposuction.The swelling of the patient's right lower limb significantly improved after surgery.Epilepsy did not occur.after taking antiepileptic drugs and sirolimus.CONCLUSION TSC with PLE is a rare and systemic disease.Imaging can detect lesions of this disease,which are important for diagnosis and treatment.

β-Amylase Is Predominantly Localized to Plastids in the Developing Tuberous Root of Sweet Potato

Starch degradation in cells is closely associated with cereal seed germination, photosynthesis in leaves, carbohydrate storage in tuber and tuberous roots, and fleshy fruit development. Based on previously reported in vitro assays, β amylase is considered as one of the key enzymes catalyzing starch breakdown, but up to date its role in starch breakdown in living cells remains unclear because the enzyme was shown often extrachloroplastic in living cells. Recently we have shown for the first time that β_amylase is predominantly immuno_localized to plastids in living cells of developing apple fruit. But it remains to know whether this model of β_amylase compartmentation is more widespread in plant living cells. The present experiment, conducted in tuberous root of sweet potato ( Ipomea batatas Lam. cv. Xushu 18) and via immunogold electron_microscopy technique, showed that β amylase visualized by gold particles was predominantly localized in plastids especially at periphery of starch granules, but the gold particles were scarcely found in other subcellular compartments, indicating that the enzyme is subcellularly compartmented in the same zone as its starch substrates. The density of gold particles (β amylase) in plastids was increasing during growing season, but the predominantly plastid_distributed pattern of β amylase in cells was shown unchanged throughout the tuberous root development. These data prove that the enzyme is compartmented in its functional sites, and so provide evidence to support the possible widespread biological function of the enzyme in catalyzing starch breakdown in plant living cells or at least in living cells of plant storage organs.

Coincidence of hepatocelluar carcinoma and hepatic angiomyolipomas in tuberous sclerosis complex: A case report

Tuberous sclerosis complex (TSC) is a dominantly inherited disorder which characterized by the growth of harmatomatous in multiple organs. Unlike the common development of renal angiomyolipoma, hepatic angiomyolipoma rarely occur in patients with TSC. We report here a patient with hepatic angiomyolipomas and concurrent hepatocellular carcinoma in TSC. This represents the first reported case in English literature. In this patient, multiple hepatic angiomyolipomas were diagnosed with recognition of their fat components and typical clinical settings. Hepatocellular carcinoma in the left liver lobe was definitely diagnosed by US guided biopsy. In such clinical settings, fat containing lesions in liver can be reasonably treated as angiomyolipomas, but non fat containing lesions must be differentiated from hepatocellular carcinoma, imaging guided biopsy can be adopted to confirm the diagnosis.

Tuberous Sclerosis Complex:Imaging Characteristics in 11 Cases and Review of the Literature

Tuberous sclerosis complex（TSC） is an uncommon multiorgan disorder that may present many and different manifestations on imaging. Radiology plays an important role in diagnosis and management, and can substantially improve the clinical outcome of TSC. Therefore, a comprehensive understanding of this disease is essential for the radiologist. The manifestations of TSC on computer tomography（CT） and magnetic resonance（MR） images were analyzed. Eleven patients with a clinical diagnosis of TSC were retrospectively reviewed. Central nervous system lesions included subependymal nodules（SENs）（11/11）, subependymal giant cell astrocytomas（SEGAs）（2/11）, cortical and subcortical tuber lesions（5/11）, and white matter lesions（4/11）. Of the 6 patients with abdominal scans, there were 6 cases of renal angiomyolipomas（AMLs）, and one case of hepatic AMLs. Of the 4 patients undergoing chest CT, lung lymhangioleiomyomatosis（LAM）（2/4）, and multiple small sclerotic bone lesions（2/4） were observed. Different modalities show different sensitivity to the lesion. Analysis of images should be integrated with patients＇ history in order to diagnose TSC.

Tuberous sclerosis patient with neuroendocrine carcinoma of the esophagogastric junction:A case report

BACKGROUND Tuberous sclerosis complex(TSC)is a rare inherited disease with non-cancerous tumor growths in the skin,brain,kidneys,heart,and lungs.The co-occurrence of neuroendocrine neoplasm(NEN)with TSC is even rarer.There have been few reports on the relationship between TSC and neuroendocrine tumors(NETs),and fewer on the relationship between TSC and neuroendocrine carcinoma(NEC),a subtype of NEN.This is the first reported case of NEC occurring at the esophagogastric junction in a patient with TSC.CASE SUMMARY A 46-year-old woman visiting our hospital for the treatment of TSC was admitted to the emergency department with tarry stools and dizziness.Computed tomography scans revealed thickness of the gastric cardia,multiple metastatic lesions of the liver,and enlarged lymph nodes near the lesser curvature of the stomach.Esophagogastroduodenoscopy revealed a type 3 tumor located from the esophagogastric junction to the fundus,and the pathological diagnosis by biopsy was NEC.The patient was treated with seven courses of cisplatin+irinotecan,followed by eight courses of ramucirumab+nab-paclitaxel,one course of nivolumab,and two courses of S-1+oxaliplatin.Twenty-three months after the first treatment,the patient died because of disease progression and deterioration of the general condition.CONCLUSION This case of NEC occurring in a patient with TSC indicates a difference in the occurrence of NETs and NECs.

Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report

BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics.The cause of the disease is unknown.Through a literature review,we found that PIL and tuberous sclerosis complex(TSC)have some common symptoms and molecular pathways.CASE SUMMARY Here,we present the case of a patient with a three-year history of primary intestinal lymphangiectasia.The patient most recently visited the hospital with abdominal distension and swelling of the left leg.His mother told us that she was diagnosed with TSC one year previously,which alerted us because the patient had multiple regions of pigmentation.To evaluate the condition of the child and make a definite diagnosis,multiple imaging examinations were performed,as was TSC gene analysis.The results met the diagnostic criteria for TSC.The patient was discharged after symptomatic treatment.Through a review of the literature,it can be seen that changes at the molecular gene level of TSC can lead to abnormal lymphatic vessels.CONCLUSION In summary,when patients with hypomelanotic macules or enamel hypoplasia are diagnosed with PIL,TSC gene screening may be important for further diagnosis.

Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis

AIM: To investigate the angiographic and volumetric effects of mammalian target of rapamycin(m TOR) inhibitors on angiomyolipomas(AMLs) in a case series of patients with tuberous sclerosis complex.METHODS: All patients who underwent catheter angiography prior to and following m TOR inhibitor therapy(n = 3) were evaluated. All cross-sectional imaging studies were analyzed with three-dimensional volumetrics, and tumor volume curves for all three tissue compartments(soft tissue, vascular, and fat) were generated. Segmentation analysis tools were used to automatically create a region of interest(ROI) circumscribing the AML. On magnetic resonance images, the "fat only" map calculated from the in- and opposed-phase gradient recalled echo sequences was used to quantify fat volume within tumors. Tumor vascularity was measured by applying a thresholding toolwithin the ROI on post-contrast subtraction images. On computed tomography images, volume histogram analysis of Hounsfield unit was performed to quantify tumor tissue composition. The angiography procedures were also reviewed, and tumor vascularity based on pre-embolization angiography was characterized in a semi-quantitative manner. RESULTS: Patient 1 presented at the age of 15 with a 6.8 cm right lower pole AML and a 4.0 cm right upper pole AML. Embolization was performed of both tumors, and after a few years of size control, the tumors began to grow, and the patient was initiated on m TOR inhibitor therapy. There was an immediate reduction in the size of both lesions. The patient then underwent repeat embolization and discontinuation of m TOR inhibition, after which point there was a substantial regrowth in both tumors across all tissue compartments. Patient 2 presented at the age of 18 with a right renal AML. Following a brief period of tumor reduction after embolization, she was initiated on m TOR inhibitor therapy, with successful reduction in tumor size across all tissue compartments. As with patient 1, however, there was immediate rebound growth following discontinuation of inhibitor therapy, without sustained control despite repeat embolization. patient 3 presented at the age of 5 with a left renal AML and underwent two embolization procedures without lasting effect prior to starting m TOR inhibition. As with patients 1 and 2, following discontinuation of therapy, there was immediate rebound growth of the tumor. Repeat embolization, however, was notable for a substantial reduction in intratumoral aneurysms and vascularity.CONCLUSION: AML volume reduction as well as posttreatment rebound growth due to m TOR inhibitors involves all three tissue components of the tumor.

Tuberous sclerosis complex-lymphangioleiomyomatosis involving several visceral organs:A case report

BACKGROUND Lymphangioleiomyomatosis(LAM)is a rare cystic lung disease characterized by the proliferation,metastasis,and infiltration of smooth muscle cells in the lung and other tissues,which can be associated with tuberous sclerosis complex(TSC).The disorder of TSC has a variable expression,and there is great phenotypic variability.CASE SUMMARY A 32-year-old Chinese woman with a history of multiple renal angioleiomyolipoma presented with a productive cough persisting for over 2 wk.Highresolution chest computed tomography revealed interstitial changes,multiple pulmonary bullae,bilateral pulmonary nodules,and multiple fat density areas of the inferior mediastinum.Conventional and contrast ultrasonography revealed multiple high echogenic masses of the liver,kidneys,retroperitoneum,and inferior mediastinum.These masses were diagnosed as angiomyolipomas.Pathology through thoracoscopic lung biopsy confirmed LAM.Furthermore,high-throughput genome sequencing of peripheral blood DNA confirmed the presence of a heterozygous mutation,c.1831C>T(p.Arg611Trp),of the TSC2 gene.The patient was diagnosed with TSC-LAM.CONCLUSION We highlight a rare case of TSC-LAM and the first report of a mediastinum lymphangioleiomyoma associated with TSC-LAM.

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

Tuberous sclerosis complex is a type of genetic multisystem disease that causes hamartomas in various organs.Facial angiofibromas commonly occur in 80%of patients and are prominently distributed over the cheek,chin,and nasolabial folds with severe disfigurement and emotional distress.Recently,photoelectric devices have been identified for the treatment of angiofibromas with great efficacy and fewer side effects.We report a case of a 42-year-old man with facial angiofibromas,who was treated with a combination of high-frequency electrocauterization,Ultrapulse CO_(2) laser,and microneedle fractional radiofrequency with 7 sessions and a 6-month follow-up.The patient showed great improvement in relation to the elevated lesions and nodules.A low recurrence rate was observed.This is the first study to investigate the efficacy of high-frequency electrocauterization and microneedle fractional radiofrequency in angiofibromas.It may provide an optimal approach for clinicians wherein a combined treatment of various lasers and electric devices is effective for complicated,protuberant,and firm angiofibromas of specific patients.

Potential for treatment of severe autism in tuberous sclerosis complex

The Food and Drug Administration(FDA) has approved two mechanismbased treatments for tuberous sclero-sis complex(TSC)-everolimus and vigabatrin. However, these treatments have not been systematically studied in individuals with TSC and severe autism. The aim of this review is to identify the clinical features of severe autism in TSC, applicable preclinical models, and potential barriers that may warrant strategic planning in the design phase of clinical trial development. A comprehensive search strategy was formed and searched across Pub Med, Embase and SCOPUS from their inception to 2/21/12, 3/16/12, and 3/12/12 respectively. After the final search date, relevant, updated articles were selected from Pub Med abstracts generated electronically and emailed daily from Pub Med. The references of selected articles were searched, and relevant articles were selected. A search of clinicaltrials.gov was completed using the search term "TSC" and "tuberous sclerosis complex". Autism has been reported in as many as 60% of individuals with TSC; however, review of the literature revealed few data to support clear classification of the severity of autism in TSC. Variability was identified in the diagnostic approach, assessment of cognition, and functional outcome among the reviewed studies and case reports. Objective outcome measures were not used in many early studies; however, diffusion tensor imaging of white matter, neurophysiologic variability in infantile spasms, and cortical tuber subcategories were examined in recent studies and may be useful for objective classification of TSC in future studies. Mechanism-based treatments for TSC are currently available. However, this literature review revealed two potential barriers to successful design and implementation of clinical trials in individuals with severe autism-an unclear definition of the population and lack of validated outcome measures. Recent studies of objective outcome measures in TSC and further study of applicable preclinical models present an opportunity to overcome these barriers.

Siblings with Autism, Mental Retardation, and Convulsions in Tuberous Sclerosis: A Case Report

A 3-year-old female patient born of consanguineous parents presented to the (development and behavioral clinic) in Taif children hospital, Western Saudai Arabia, her mother complained that her daughter had speech delay, no eye to eye contact, and was performing stereotyped behaviors (hand flapping). The girl developed convulsions at the age of 3 months and was on anticonvulsant medication since that age;her convulsions were controlled on anti-epileptic treatment. Family history revealed that the girl had a 6-year-old male sibling who developed convulsions at the age of 4 months and is on antiepileptic medications;the boy suffered also from speech delay, absent social interaction, and repetitive behaviors. On examination the girl had characteristic features of angio-fibromas, hypo-pigmented macules on the trunk and legs, and moreover the boy had similar skin features plus hypo-pigmented tufts of hair. Both cases were diagnosed as Autistic spectrum disorder, tuberous sclerosis, and mental retardation. The family needed genetic counseling, while both cases needed as soon as possible behavioral and educational strategies.

Tuberous Sclerosis Complex Associated with Autism Spectrum Features and Bumetanide as a Pharmacological Indication: A Case Report

A wide variety of genetic and non-genetic pathologies share serious psychiatric symptoms, which determine a poor quality of life for patients and their families. To evaluate whether bumetanide, a drug initially developed as a diuretic and currently analyzed for a new indication in patients with severe neuropsychiatric pathologies, could improve the disruptive and self-injurious behaviors secondary to Tuberous Sclerosis Complex (TSC) and characteristic of the autistic spectrum the case of this 6-year-old patient is considered. Following preclinical and clinical evidence of the efficacy of bumetanide in Tuberous Sclerosis and other neurodevelopmental disorders, the drug may alleviate the psychiatric manifestations (TAND) of Tuberous Sclerosis pathology. This would allow avoiding the excessive prescription of antipsychotic drugs indicated to control disruptive behaviors. Methodology: The Administración Nacional de Medicamentos, Alimentos y Tecnología Médica (ANMAT) approval was requested for compassionate use since it is not an approved drug in Argentina for this indication. The patient was evaluated with laboratory tests at T0, T1, T2, T3 and T4, corresponding to the basal moments, of 7 days, 30 days, 60 days and 90 days after starting the medication. Likewise, behavior was evaluated with the Aberrant Behavior Checklist (ABC) at the same times described. CARS was used for autistic characteristics and TAND Checklist for psychiatric disorders, both at the beginning. Bumetanide was administered at 1 mg/day and increased to 1.5 mg/day one month after the first dose. Results: We observed, in this case, the primary endpoint, irritability, showed moderate improvement. On the contrary, hyperactivity, attention, sociability and better connection through gaze experienced and evident improvement. Regarding isolation scales and stereotyped behaviors, an important improvement was found after 3 months of treatment with bumetanide, an antagonist NKCC1, evaluated through the Aberrant Behavior Checklist (ABC). On the other hand, no remarkable adverse effects were observed.

Tuberous sclerosis complex associated renal clear cell carcinoma(a case report and literature review)

Objective To explore the diagnosis and treatment features of tuberous sclerosis complex associated renal cell carcinoma. Methods A 22-year-old boy with a childhood history of epilepsy and mental retardation pres-

Endogenous Hormone Concentration in Developing Tuberous Roots of Different Sweet Potato Genotypes

A field trial was conducted to investigate the changes of endogenous hormone concentration （EHC） during formation and thickening of tuberous roots in sweet potato （Ipomoea batatas L.） of different genotypes： Xushu 18, Minamiyutaka, and L trifida-K123. The results of this study suggested that the concentrations of zeatin riboside （ZR）, dihydro-zeatin riboside （DHZR）, abscisic acid （ABA）, indole-3-acetic acid （IAA）, and isopentenyl-adenine （IPA） of Xushu 18 and Minamiyutaka were significantly higher than those of I. trifida-K123. Dry tuberous root yields were positively correlated with the concentration of ABA, ZR, and DHZR at 1 or 5% significant level, but were not obviously correlated with the concentrations of IAA, IPA, and GA4. The concentrations of ABA, ZR and DHZR played very important roles in the tuberous root formation and thickening in sweet potato. The concentrations of ZR, DHZR, ABA, and IAA in the upper or inner portion of tuberous roots were significantly higher than those toward the end of the root or its outer portion. Meanwhile, EHC of large-sized tuberous roots were significantly higher than those of medium- or small-sized tubers during the early thickening period. In the rapid thickening period of tuberous roots, EHC of medium-sized tubers were the highest, However, at the late-thickening period, EHC of small-sized tubers ranked the highest.

Sirolimus can promote the disappearance of renal angiomyolipoma associated with tuberous sclerosis complex:a prospective cohort study

Background Renal angiomyolipoma(RAML)is the most common kidney lesion in patients with tuberous sclerosis complex(TSC),affecting about 80%of patients.It is a benign tumor that grows over time,usually bilaterally,and can easily lead to kidney complications such as acute hemorrhage.Herein,we investigated the efficacy and safety of sirolimus in children with TSC-associated RAML and explored the factors affecting tumor disappearance under sirolimus treatment through subgroup analysis.Methods A prospective cohort study was conducted.Sirolimus was initiated at 1 mg/(m^(2)×day),and dose adjustments were made by a 2-week titration period to attain a trough blood concentration of 5-10 ng/mL.The disappearance of RAML in chil-dren after sirolimus treatment was observed,and Cox regression was used to screen the factors affecting tumor disappearance.Results One hundred and twenty-six patients who met the criteria were analyzed.After 3 months,6 months,12 months,and 24 months of follow-up,tumors disappeared in 18(14.3%),30(23.8%),39(31.0%),and 42(33.3%)children,respec-tively.Tumors disappeared in 50(39.7%)children by the last visit of each individual,and 30(60%)of them occurred within 6 months.The multivariate Cox regression analysis showed that patients with a smaller maximum tumor diameter at baseline had a higher tumor disappearance rate.Thirty-six(29%)patients had stomatitis during the entire treatment period,and no serious adversereactionswereobserved.Conclusions Sirolimus could promote the disappearance of TSC-related RAML.The disappearance rate was correlated with the maximum diameter at baseline,and the smaller the tumor was,the higher the disappearance rate.It is well tolerated in the treatment of RAML associated with TSC.

Modeling tuberous sclerosis complex with human induced pluripotent stem cells

Background Tuberous sclerosis complex(TSC)is an autosomal dominant genetic disorder with a birth incidence of I:6000 in the United States that is characterized by the growth of non-cancerous tumors in multiple organ systems including the brain,kidneys,lungs,and skin.Importantly,TSCis also associated with signicant neurological manifestations including epilepsy TSC-associated neuropsychiatric disorders,intellectual disabilities,and autism spectrum disorder.Mutations in the TSCI or TSC2 genes are well-established causes of TSC,which lead to TSC1/TSC2 deficiency in organs and hyper-activation of the mammalian target of rapamycin signaling pathway.Animal models have been widely used to study the effect of TSCl/2 genes on the development and function of the brain.Despite considerable progress in understanding the molecular mechanisms underlying TSC in animal models,a human-specific model is urgently needed to investigate the effects of TSCl/2 mutations that are unique to human neurodevelopment.Data sources Literature reviews and research articles were published in PubMed-indexed journals.Results Human-induced pluripotent stem cells(iPSCs),which capture risk alleles that are identical to their donors and have the capacity to differentiate into virtually any cell type in the human body,pave the way for the empirical study of previously inaccessible biological systems such as the developing human brain.Conclusions In this review,we present an overview of the recent progress in modeling TSC with human iPSC models,the existing limitations,and potential directions for future research.

Cutaneous lesions and visceral involvement of tuberous sclerosis

Tuberous sclerosis (TS) is an autosomal dominant disorder with a significantrange of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart andlung is the main cause of death in patients with TS. The aim of this study is to summarize thecharateristic cutaneous features and common extracutaneous involvement of TS, which are helpful tothe early detection of visceral involvement. The analyzed clinical data from 78 patients with TSincluded those from detailed history, physical and dermatological examination, cranial computedtomography ( CT) and magnetic resonance imaging ( MRI) , abdominal ultrasonography, chestroentgenography, hand and foot X-ray and ophthalmologic examination. The skin, brain and kidney wereinvolved frequently in TS patients. Hypomelanotic macules were the most common and earliestcutaneous lesions. Their number was more than 3 in 81. 5% of'the patients. They were followed byfacial angiofibromas and Shangreen' s patch in a decreasing frequency. Forehead plaque, facialangiofibromas and Shagreen's patch appeared in patients at mean age of 2. 6, 6. 0 and 8. 1 yearsrespectively. Cranial CT showed a high positive rate in TS patients . Cutaneous features of TS arehelpful in the early diagnosis of the disease. Hypomelanotic macules are especially important forpatients with epilepsy or babies whose number of hypomelanotic malues is more than 3. Cranial CT isof great value in the diagnosis of TS. The involvement of visceral organs such as the brain andkidney should be examined in TS patients.

Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex

Background： A sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex （TSC）. The aim of the present study was to compare the color fundus photography, infrared imaging （IFG）, and optical coherence tomography （OCT） in the detection rate of retinal hamartoma in patients with TSC. Methods： This study included 11 patients （22 eyes） with TSC, who underwent color fundus photography, IFG, and spectral-domain OCT to detect retinal hamartomas. TSC1 and TSC2 mutations were tested in eight patients. Results： The mean age of the 11 patients was 8.0 ± 2.1 years. The mean spherical equivalent was -0.55 ±1.42 D by autorefraction with cycloplegia. In 11 patients （22 eyes）, OCT, infrared fundus photography, and color fundus photography revealed 26, 18, and 9 hamartomas, respectively. The predominant hamartoma was type I （55.6%）. All the hamartomas that detected by color fundus photography or IFG can be detected by OCT. Conclusion： Among the methods of color fundus photography, IFG, and OCT, the OCT has higher detection rate for retinal hamartoma in TSC patients; therefore, OCT might be promising for the clinical diagnosis of TSC.

Occult Renal Cell Carcinoma of Eosinophilic Morphology Detected within Renal Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex

The kidney is affected in about 80-85% of tuberous sclerosis complex （TSC） patients. Renal manifestations in TSC patients include an increased incidence of epithelial cysts and tumors, such as multiple renal angiomyolipomas （AMLs）, renal cell carcinoma （RCC）, and oncocytoma. The coexistence of RCC and renal AML within same tumor masses, namely collision tumor, is very rare, and about six cases have been reported. Here, we present a case of a young male with TSC and multiple AMLs, containing RCC with eosinophilic morphology.