The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis

الملخص EN

Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability.

Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017).

We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period.

The pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations were used for diagnosis and follow-up.

The seven major and minor criteria were regarded as sufficient for accurate diagnosis.