P115 – 2579: Clinical presentation of Tuberous Sclerosis Complex in Cape Town, South Africa

Abstract

Objective To document the phenotype of children with Tuberous Sclerosis Complex (TSC) from sub-Saharan Africa, describing presenting features to improve early diagnosis in our setting. Methods Patients were recruited, 10/13 to 08/14, from the only dedicated TSC clinic in sub-Saharan Africa TSC clinic at Red Cross War Memorial Children's Hospital in Cape Town, South Africa, a University tertiary facility. Results Thirty-one patients complied with international diagnostic criteria (18 males: 13 females, median age 11 years (range 1–24). Median age at diagnosis was 28 months (range 1–145). Ancestry was 14 indigenous African, 8 European, 8 Mixed Ancestry and 1 Arabic. Twenty-four (77%) children were referred with focal seizures, TSC was then diagnosed. Eight (26%) children had epileptic spasms, 2 at presentation and in 6 with focal seizures the spasms occurred later. Skin manifestations and hypertension led to referral in 5 (16%) and 3 (10%) children respectively. Most children were referred to neurology as emergencies with acute convulsive seizures, a smaller proportion were referred from medical out-patients with short seizures, skin lesions and hypertension. Seven (23%) had Subepyndymal Giant Cell Astrocytoma (SEGA) detected and 18 (58%) renal angiomyolipoma. 29 (93.5%) children had cortical tubers and subepyndymal nodules. Nineteen children (61.3%) had mild intellectual disability. Conclusion TSC prevalence is estimated 1:6000 newborns and based on our regional population of 4 million children, over 660 children may have TSC. The majority of affected children in our region and potentially sub-Saharan Africa are probably not diagnosed. Our study identified seizures as the main presenting feature leading to diagnosis of TSC. This differs from overseas where children are more likely to present with skin lesions. This highlights the need to raise awareness of such common clinical markers to promote early referral to specialist centers to reduce complications.