Supporting Data docx 3.9MB

NEUROIMAGING CHARACTERISTICS OF TUBEROUS SCLEROSIS COMPLEX IN PAEDIATRIC PATIENTS AT A TERTIARY HEALTH FACILITY IN KENYA: A CASE SERIES

NEUROIMAGING CHARACTERISTICS OF TUBEROUS SCLEROSIS COMPLEX IN PAEDIATRIC PATIENTS AT A TERTIARY HEALTH FACILITY IN KENYA: A CASE SERIES

Objective Tuberous sclerosis complex (TSC) is a neuro-cutaneous syndrome characterized by non-malignant tumors and is diagnosed based on genetic and/or clinical diagnostic criteria. Dermatologic manifestations are the commonest presentation. Hypo-melanotic macules, which are the most prevalent and earliest skin finding, may however not be apparent in infancy and are non-specific. On the other hand, cortical tubers are seen in 90% of patients with TSC. As such, neuroimaging plays an important role in early diagnosis, especially in sub-Saharan Africa where the diagnosis of TSC is largely based on the clinical diagnostic criteria as genetic tests are cost prohibitive. We aim to increase evidence on the role of neuroimaging in our setting, facilitating use of this diagnostic modality in TSC diagnosis, hence preventing delayed or missed diagnosis.

Methods We conducted a retrospective review of the clinical and neuroimaging findings of children presenting with TSC from the year 2011 to 2021 at Aga Khan University Hospital, Nairobi.

Results Four children were diagnosed with TSC during this period. The diagnostic criteria was fulfilled with the use of neuroimaging in all except one of the children who presented late. Neuroimaging revealed cortical tubers in all the children (figure 1 to 4), with one of them presenting with a sub-ependymal giant cell astrocytoma on follow up (figure 3E and 3F).

Conclusion Neuro-imaging plays an important role in the early diagnosis of TSC in our setting.
Keywords: Tuberous Sclerosis Complex, Neuroimaging