Displaying all 17 publications

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  1. Fong CY, Bleasel A, Dexter MA, Lawson JA, Wong CH
    Epileptic Disord, 2020 Oct 01;22(5):633-641.
    PMID: 33146141 DOI: 10.1684/epd.2020.1211
    Evaluating the candidacy for epilepsy surgery in patients with tuberous sclerosis can be challenging, particularly when non-invasive investigations do not show a clear epileptogenic zone. Stereoencephalography may be useful in such cases. We present a case in which the primary epileptogenic tuber was successfully identified by stereoencephalography, which resulted in seizure freedom following epilepsy surgery. [Published with video sequences].
    Matched MeSH terms: Tuberous Sclerosis/complications; Tuberous Sclerosis/diagnosis; Tuberous Sclerosis/surgery*
  2. Sasongko TH, Ismail NF, Nik Mohd Ariff NA, Zabidi-Hussin ZA
    Jpn J Clin Oncol, 2014 Nov;44(11):1130.
    PMID: 25320338 DOI: 10.1093/jjco/hyu157
    Matched MeSH terms: Tuberous Sclerosis/complications*; Tuberous Sclerosis/diagnosis*; Tuberous Sclerosis/pathology
  3. Martin AG, Singh MS, Idris B, Abdullah JM
    J Neurosci Rural Pract, 2014 Jul;5(3):258-60.
    PMID: 25002765 DOI: 10.4103/0976-3147.133580
    Tuberous sclerosis is a known phakomatosis and the associated finding of a subependymal giant cell astrocytoma is common with this disorder. A case of tuberous sclerosis with a finding not previously reported, i.e. that of a pleomorphic xanthoastrocytoma, is presented here.
    Matched MeSH terms: Tuberous Sclerosis
  4. Segasothy M, Yi AA, Mohamed S
    Med J Malaysia, 1983 Jun;38(2):94-7.
    PMID: 6621453
    Tuberous sclerosis is a disease with a well known association with renal masses, both cysts and angiomyolipomas. Reported here is a case of a 26 year old woman who had, in addition to angiomyolipomas of the kidneys, adenoma sebaceum, paraungual fibromas, shagreen patches and cerebral tubers.
    Matched MeSH terms: Tuberous Sclerosis/complications*
  5. Ismail NF, Rani AQ, Nik Abdul Malik NM, Boon Hock C, Mohd Azlan SN, Abdul Razak S, et al.
    J Mol Diagn, 2017 03;19(2):265-276.
    PMID: 28087349 DOI: 10.1016/j.jmoldx.2016.10.009
    Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS) to simplify the detection strategy, yet we come up with reasonably high detection rate. Thirty-four Malaysian patients diagnosed with TSC were referred to Human Genome Center, Universiti Sains Malaysia. We used a combination of MLPA to detect large copy number changes and AS to detect smaller mutations. TSC1 pathogenic or likely pathogenic mutations were found in 6 patients (18%) and TSC2 in 21 patients (62%), whereas 6 patients (18%) show no mutations and 1 patient (2%) showed only TSC2 missense variant with uncertain significance. Six of the mutations are novel. Our detection strategy costs 81% less and require 1 working week less than the conventional strategy. Confirmatory sequencing using Sanger method on a few representative mutations showed agreement with results of the AS. Combination of MLPA and Illumina MiSeq AS provides a simplified strategy and reasonably high detection rate for TSC1/TSC2 mutation, which suggested application of the strategies into clinical molecular diagnostics.
    Matched MeSH terms: Tuberous Sclerosis/diagnosis*; Tuberous Sclerosis/genetics*
  6. Hui Min Chong, Shien Yee Ng
    MyJurnal
    The case report describes the presentation of a 19-year old female with tuberous sclerosis who presented with progressive dyspnoea over 2 days.
    Chest radiograph revealed bilateral pneumothorax. Computed tomography showed features of pulmonary lymphangioleiomyomatosis and bilateral renal angiomyolipomas. The coexistence of both conditions may cause devastating morbidity and mortality.
    Matched MeSH terms: Tuberous Sclerosis
  7. Ismail NF, Nik Abdul Malik NM, Mohseni J, Rani AM, Hayati F, Salmi AR, et al.
    Jpn J Clin Oncol, 2014 May;44(5):506-11.
    PMID: 24683199 DOI: 10.1093/jjco/hyu024
    Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes. Tuberous sclerosis complex cannot be easily diagnosed since there is no pathognomonic feature, although there are consensus diagnostic criteria for that. Mutation analysis is useful and plays important roles. We report here two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively.
    Matched MeSH terms: Tuberous Sclerosis/genetics*
  8. Sasongko TH, Ismail NF, Nik Abdul Malik NM, Zabidi-Hussin ZA
    Orphanet J Rare Dis, 2015;10:95.
    PMID: 26259610 DOI: 10.1186/s13023-015-0317-7
    Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapamycin and rapalogs for reducing the size of TSC-associated solid tumors in patients with Tuberous Sclerosis Complex (TSC).
    Matched MeSH terms: Tuberous Sclerosis/metabolism*
  9. Malik AS, Hussin ZA, Shriwas SR, Kasim ZM
    Med J Malaysia, 1994 Dec;49(4):375-84.
    PMID: 7674974
    This paper reviews the subject of tuberous sclerosis complex and presents data in eight cases of this condition, admitted to Hospital Universiti Sains Malaysia over a period of 8.5 years. The average age at presentation was 53 months. Seizures were the most common presenting feature. Male to female ratio was 3:1. Family history was present in four patients. All of the patients had one or more skin lesions. Six of them had retinal in six patients. Two patients had renal angiomyolipomas. A high index of hamartomas. Cardiac tumours were found in two patients. Multiple subependymal hamartomas were detected in six patients. Two patients had renal angiomyolipomas. A high index of suspicion and a detailed physical examination is required to diagnose this rare disorder.
    Matched MeSH terms: Tuberous Sclerosis/complications*
  10. Fong CY, Ng K, Kong AN, Ong LC, Rithauddin MA, Thong MK, et al.
    Arch Dis Child, 2019 10;104(10):972-978.
    PMID: 31122923 DOI: 10.1136/archdischild-2018-316394
    AIM: Evaluation of impaired quality of life (QOL) of Malaysian children with tuberous sclerosis complex (TSC) and its possible risk factors.

    METHOD: Cross-sectional study on 68 parents of Malaysian children aged 2-18 years with TSC. QOL was assessed using proxy-report Paediatric Quality of Life Inventory (PedsQL) V.4.0, and scores compared with those from a previous cohort of healthy children. Parents also completed questionnaires on child behaviour (child behaviour checklist (CBCL)) and parenting stress (parenting stress index-short form). Multiple regression analysis was used to determine sociodemographic, medical, parenting stress and behavioural factors that impacted on QOL.

    RESULTS: The mean proxy-report PedsQL V.4.0 total scale score, physical health summary score and psychosocial health summary score of the patients were 60.6 (SD 20.11), 65.9 (SD 28.05) and 57.8 (SD 19.48), respectively. Compared with healthy children, TSC patients had significantly lower mean PedsQL V.4.0 total scale, physical health and psychosocial health summary scores (mean difference (95% CI): 24 (18-29), 20 (12-27) and 26 (21-31) respectively). Lower total scale scores were associated with clinically significant CBCL internalising behaviour scores, age 8-18 years and Chinese ethnicity. Lower psychosocial health summary scale scores were associated with clinically significant CBCL internalising behaviour scores, Chinese ethnicity or >1 antiepileptic drug (AED).

    CONCLUSION: Parents of children with TSC reported lower PedsQL V.4.0 QOL scores in all domains, with psychosocial health most affected. Older children, those with internalising behaviour problems, of Chinese ethnicity or on >1 AED was at higher risk of lower QOL. Clinicians need to be vigilant of QOL needs among children with TSC particularly with these additional risk factors.

    Matched MeSH terms: Tuberous Sclerosis/psychology*
  11. Sathyamoorthy P
    Singapore Med J, 1993 Aug;34(4):358-60.
    PMID: 8266217
    Incomplete form of tuberous sclerosis (TS) may present with acute complications such as haematuria, retroperitoneal haemorrhage or pneumothorax. Such cases may pose diagnostic difficulty. A patient with incomplete form of TS without any cerebral impairment who presented as an acute surgical abdomen is reported. The diagnostic criteria of TS are reviewed. Visceral manifestations of TS including acute complications are discussed. The importance of recognising such presentations is stressed.
    Matched MeSH terms: Tuberous Sclerosis/pathology*
  12. Kadhim Jawad Obaid, Yahya Mohammad Arpine, Nor Salmah Bakar, Marlina Tanty Ramli Hamid, Ahmed Ramzi Yusof
    Intramuscular shoulder angiomyolipomas are very rare. We report a case in a 22-year-old male with a well circumscribed lesion located on the back of the shoulder. This lesion, differs from renal angiomyolipoma in terms of non-association with tuberous sclerosis, circumscription and male predominance. Another characteristic feature is the absence of epithelioid cells. Differential diagnosis includes lipoma, angiolipoma, angioleiomyoma, hemangioma, myolipoma and liposarcoma. It is distinguished from the above mentioned entities by the presence of a combination of thick-walled blood vessels, smooth muscle and fat.
    Matched MeSH terms: Tuberous Sclerosis
  13. Ameen SA, Salina H, Zahedi FD, Primuharsa-Putra SH, Masir N
    Iran J Otorhinolaryngol, 2019 May;31(104):191-195.
    PMID: 31223601
    Introduction: Angiomyolipoma (AML), a benign mesenchymal tumor that commonly arises from the kidney, may be associated with tuberous sclerosis complex and perivascular epithelioid cell tumors (PEComas). Nasal angiomyolipoma is very rare and usually occurs in elderly individuals with epistaxis and nasal obstruction.

    Case Report: We report a rare case of nasal angiomyolipoma in a young male. To the best of our knowledge, this is the first documented case of angiomyolipoma originating from the posterior end of the inferior turbinate, clinically mimicking juvenile nasopharyngeal angiofibroma (JNA). The tumor was removed completely via coblator-assisted endoscopic sinus surgery. The patient was asymptomatic at a 2-year follow-up.

    Conclusion: Nasal AML located in the posterior nasal cavity in a male patient can mimic the presentation of JNA. A computed tomography scan of the paranasal sinuses played an important role in differentiating nasal AML from JNA. The coblator-assisted endoscopic technique is useful in controlling intraoperative hemostasis in the removal of a suspicious vascular tumor.

    Matched MeSH terms: Tuberous Sclerosis
  14. Mohammed F, Tan GC, Hor KN, Arnold M, Wong YP
    Cardiovasc. Pathol., 2020 05 12;49:107226.
    PMID: 32574866 DOI: 10.1016/j.carpath.2020.107226
    Cardiac rhabdomyoma is the most prevalent cardiac tumors in the pediatric population, in close association with tuberous sclerosis complex. It is usually detected antenatally or postnatally by echocardiography. Clinical presentations depend greatly on the size and position of the tumor mass. Interestingly, rhabdomyoma has a propensity to regress spontaneously and is not usually operated upon, unless the patient becomes hemodynamically compromised. Herein, we report an unusual case of surgically treated cardiac rhabdomyoma in a baby boy presented at birth with a progressive enlarging intraventricular mass, complicated with left ventricular outflow tract obstruction 7 weeks later. Histopathological examination of the intracardiac mass revealed sheets of tumor cells with spider-like morphology (known as "spider cells"), confirmed the diagnosis of rhabdomyoma. Close disease monitoring of patient's hemodynamic status in a newly diagnosed cardiac rhabdomyoma is inevitable as the tumor, although rare, may progress.
    Matched MeSH terms: Tuberous Sclerosis
  15. Kadhim Jawad Obaid, Yahya Mohammad Arpine, Nor Salmah Bakar, Marlina Tanty Ramli Hamid, Ahmed Ramzi Yusof
    MyJurnal
    Intramuscular shoulder angiomyolipomas are very rare. We report a case in a 22-year-old male with a well circumscribed lesion located on the back of the shoulder. This lesion, differs from renal angiomyolipoma in terms of non-association with tuberous sclerosis, circumscription and male predominance. Another characteristic feature is the absence of epithelioid cells. Differential diagnosis includes lipoma, angiolipoma, angioleiomyoma, hemangioma, myolipoma and liposarcoma. It is distinguished from the above mentioned entities by the presence of a combination of thick-walled blood vessels, smooth muscle and fat.
    Matched MeSH terms: Tuberous Sclerosis
  16. Sasongko TH, Ismail NF, Zabidi-Hussin Z
    Cochrane Database Syst Rev, 2016 Jul 13;7:CD011272.
    PMID: 27409709 DOI: 10.1002/14651858.CD011272.pub2
    BACKGROUND: Previous studies have shown potential benefits of rapamycin or rapalogs for treating people with tuberous sclerosis complex. Although everolimus (a rapalog) is currently approved by the FDA (U.S. Food and Drug Administration) and the EMA (European Medicines Agency) for tuberous sclerosis complex-associated renal angiomyolipoma and subependymal giant cell astrocytoma, applications for other manifestations of tuberous sclerosis complex have not yet been established. A systematic review is necessary to establish the clinical value of rapamycin or rapalogs for various manifestations in tuberous sclerosis complex.

    OBJECTIVES: To determine the effectiveness of rapamycin or rapalogs in people with tuberous sclerosis complex for decreasing tumour size and other manifestations and to assess the safety of rapamycin or rapalogs in relation to their adverse effects.

    SEARCH METHODS: Relevant studies were identified by authors from the Cochrane Central Register of Controlled Trials (CENTRAL), Ovid MEDLINE, and clinicaltrials.gov. Relevant resources were also searched by the authors, such as conference proceedings and abstract books of conferences, from e.g. the Tuberous Sclerosis Complex International Research Conferences, other tuberous sclerosis complex-related conferences and the Human Genome Meeting. We did not restrict the searches by language as long as English translations were available for non-English reports.Date of the last searches: 14 March 2016.

    SELECTION CRITERIA: Randomized or quasi-randomized studies of rapamycin or rapalogs in people with tuberous sclerosis complex.

    DATA COLLECTION AND ANALYSIS: Data were independently extracted by two authors using standard acquisition forms. The data collection was verified by one author. The risk of bias of each study was independently assessed by two authors and verified by one author.

    MAIN RESULTS: Three placebo-controlled studies with a total of 263 participants (age range 0.8 to 61 years old, 122 males and 141 females, with variable lengths of study duration) were included in the review. We found high-quality evidence except for response to skin lesions which was judged to be low quality due to the risk of attrition bias. Overall, there are 175 participants in the treatment arm (rapamycin or everolimus) and 88 in the placebo arm. Participants all had tuberous sclerosis complex as proven by consensus diagnostic criteria as a minimum. The quality in the description of the study methods was mixed, although we assessed most domains as having a low risk of bias. Blinding of treatment arms was successfully carried out in all of the studies. However, two studies did not report allocation concealment. Two of the included studies were funded by Novartis Pharmaceuticals.Two studies (235 participants) used oral (systemic) administration of everolimus (rapalog). These studies reported response to tumour size in terms of the number of individuals with a reduction in the total volume of tumours to 50% or more relative to baseline. Significantly more participants in the treatment arm (two studies, 162 participants, high quality evidence) achieved a 50% reduction in renal angiomyolipoma size, risk ratio 24.69 (95% confidence interval 3.51 to 173.41) (P = 0.001). For the sub-ependymal giant cell astrocytoma, our analysis of one study (117 participants, high quality evidence) showed significantly more participants in the treatment arm achieved a 50% reduction in tumour size, risk ratio 27.85 (95% confidence interval 1.74 to 444.82) (P = 0.02). The proportion of participants who showed a skin response from the two included studies analysed was significantly increased in the treatment arms, risk ratio 5.78 (95% confidence interval 2.30 to 14.52) (P = 0.0002) (two studies, 224 participants, high quality evidence). In one study (117 participants), the median change of seizure frequency was -2.9 in 24 hours (95% confidence interval -4.0 to -1.0) in the treatment group versus -4.1 in 24 hour (95% confidence interval -10.9 to 5.8) in the placebo group. In one study, one out of 79 participants in the treatment group versus three of 39 in placebo group had increased blood creatinine levels, while the median percentage change of forced expiratory volume at one second in the treatment arm was -1% compared to -4% in the placebo arm. In one study (117 participants, high quality evidence), we found that those participants who received treatment had a similar risk of experiencing adverse events compared to those who did not, risk ratio 1.07 (95% confidence interval 0.96 - 1.20) (P = 0.24). However, as seen from two studies (235 participants, high quality evidence), the treatment itself led to significantly more adverse events resulting in withdrawal, interruption of treatment, or reduction in dose level, risk ratio 3.14 (95% confidence interval 1.82 to 5.42) (P < 0.0001).One study (28 participants) used topical (skin) administration of rapamycin. This study reported response to skin lesions in terms of participants' perception towards their skin appearance following the treatment. There was a tendency of an improvement in the participants' perception of their skin appearance, although not significant, risk ratio 1.81 (95% confidence interval 0.80 to 4.06, low quality evidence) (P = 0.15). This study reported that there were no serious adverse events related to the study product and there was no detectable systemic absorption of the rapamycin during the study period.

    AUTHORS' CONCLUSIONS: We found evidence that oral everolimus significantly increased the proportion of people who achieved a 50% reduction in the size of sub-ependymal giant cell astrocytoma and renal angiomyolipoma. Although we were unable to ascertain the relationship between the reported adverse events and the treatment, participants who received treatment had a similar risk of experiencing adverse events as compared to those who did not receive treatment. Nevertheless, the treatment itself significantly increased the risk of having dose reduction, interruption or withdrawal. This supports ongoing clinical applications of oral everolimus for renal angiomyolipoma and subependymal giant cell astrocytoma. Although oral everolimus showed beneficial effect on skin lesions, topical rapamycin only showed a non-significant tendency of improvement. Efficacy on skin lesions should be further established in future research. The beneficial effects of rapamycin or rapalogs on tuberous sclerosis complex should be further studied on other manifestations of the condition.

    Matched MeSH terms: Tuberous Sclerosis/complications; Tuberous Sclerosis/drug therapy*; Tuberous Sclerosis/pathology
  17. Ram SP, Malik AS
    Med J Malaysia, 1994 Mar;49(1):96-9.
    PMID: 8058000
    Three children with cardiac tumors are described: a 12-year-old female child who had left atrial myxoma, and two males having rhabdomyoma of the right ventricle associated with tuberous sclerosis. The child with left atrial myxoma was symptomatic and the tumour was subsequently excised. The other two children with rhabdomyoma were managed conservatively.
    Matched MeSH terms: Tuberous Sclerosis/complications*
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