ICNC Abstracts, ICNC 2018

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ne imaging of children with Tuberous sclerosis complex: is it safe to adapt international recommendations for resource limited settings?
Marie Wessels, Bergit Schlegel, Jo M Wilmshurst

Last modified: 2018-09-09

Abstract


Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems. The greatest morbidity and mortality in TSC is associated with renal, neurological and neuropsychiatric manifestations. Guidelines recommend abdominal MRI every 1-3 years to assess for progression of angiomyolipomas (AML) and renal cystic disease. Typically, this coincides with brain MRI. In resource limited settings renal ultrasound is a more accessible investigation tool. AIM:  To establish if adapting the protocol to routine brain MRI with renal ultrasound is effective in screening for renal pathology. METHODS: All children attending a TSC clinic between 2008 and 2018 were included. Patients undergo abdominal ultrasound routinely every two years, and more frequently if the lesions are large or increasing in size. The prevalence of renal disease in this cohort, as well as the acceptability and reliability of this adapted protocol was explored. MRI is performed in cases where lesions appear complicated. RESULTS: From a total cohort of 39 (male 21: female 18), mean age 9.5yrs (1-21 years), 34 children had renal pathology identified on abdominal ultrasound. Eight of these children required MRI and 5 commenced on mTOR inhibitors. Two patients underwent hemi-nephrectomy for renal cell carcinoma following initial ultrasound diagnosis. During the study time 2 children demised. CONCLUSION:  Whilst routine access to abdominal MRI would be ideal, in a resource limited setting, ultrasound has proved an effective screening tool to detect renal disease of clinical relevance and progression in our cohort of patients.


Keywords


Tuberous Sclerosis

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