Patients' Clinical Registry and Epidiomolgy of Tuberous Sclerosis in Doha

Background

Tuberous Sclerosis Complex (TSC) is a rare, inherited genetic neurocutaneous disorder affecting multiple organ systems through the growth of non-malignant hematomas in the brain, eyes, heart, lungs, kidneys, liver, and skin.

Objectives

The aim of this study is to describe the history, clinical manifestations, molecular characterization, and management of TSC within the Qatari population

Methods

A single center study was performed between October 2018 and March 2019 in 39 patients, from 34 families. Detailed clinical and genetic data were collected retrospectively.

Findings

Four patients were excluded as they did not meet the criteria of TSC. A total of 34 patients with TSC [19 (55 %) female, 15 (44%) from 29 families. 7 (20%) of TSC patients were Qatari and 27 (79%) were non-Qatari. 31 (91%) of TSC patients had seizures. Out of 34, 8 patients (23%) had infantile spasm. 7 (20%) of patients had SEGAs. 16/34 (47%) of patients had cognitive delay such as gross development/developmental delay or mental retardation. 7/34 (20%) reported learning disabilities. 18/34 (52%) had Autism/ADHD. Autism/ADHD were presented in 17/18 (94%) of patients who had epilepsy/infantile spasm. 15/34 (44%) TSC birth cohort reported cardiac rhabdomyomas. Renal manifestations were seen in 14 patients (41%) included angiomyolipomas in 10 (28%) cases. Cutaneous involvement was seen in 22/34 (64%). Only 1/35 (2.8%) patient reported retinal hamartomas.

Discussion

The incidence rate of TSC in the Qatar population below 18 years of age is 1.1/10,000. Neurologic effects were the most common exhibited clinical manifestations, with rhabdomyoma as the leading cause for early diagnosis.

Conclusion

Although standard care for the patient currently meets the international requirement, there are still a number of recommendations that can be applied to raise it.