ICNC Abstracts, ICNC 2018

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Does Ethnicity Affect the Clinical Presentation of Tuberous Sclerosis Complex?
Ravi Benjamin Dhamija, Cigdem Akman, Aliza Alter, Daniel McBrian, Elena Gonzalez

Last modified: 2018-09-09


Introduction: Tuberous sclerosis is a genetic disorder associated with multisystem involvement. Clinical features of this syndrome are well defined, however the role of ethnicity was not defined. In this study, we reviewed the factors including genetic mutation and ethnicity on the clinical presentation of TSC.

Methods: Chart review was conducted to examine the clinical features of the patients diagnosed with Tuberous Sclerosis Complex (TSC).

Results: Among 55 patients (age: 10±6.7 years), 18 were of hispanic ethnicity. Seizures were reported in 48 (87%), status epilepticus in 9 (16%), learning disability in 27 (49%), and autism in 11 (27). Special education was required in 20 (39%) patients.  Brain MRI was significant for subepandymal nodules in 33 (82%), cortical tubers in 36 (90%), cysts in 9 (22.5%) and SEGA in 5 (12.5%). Rabdomyoma was present in 29 (63%), renal angiolipoma in 11 (24%), renal cysts in 5 (11%) patients. Genetic test was performed in 36 patients. Of those, TSC2 gene mutation was seen in 26 (72%), TSC1 gene in 4 (11%). One patient was heterozygous for TSC1 and TSC 2 genes inherited from each parents. Family history of TSC was reported in 19 patients. History of infantile spasms and renal cysts were reported less often in patients of hispanic ethnicity (17% vs 51% and 12.5% vs 50% respectively), in addition to older age of seizure onset (22.7 ±9.2 vs 19.6±3.5 months).

Conclusion: Clinical presentation of TSC may vary based on the ethnic background. Patients with hispanic origin may have a milder phenotype.


Tuberous Sclerosis

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