Tuberous sclerosis

Case contributed by Dr Abdulmajid Bawazeer

Presentation

The patient presented with delayed milestones, convulsion, and developmental delay.

Patient Data

Age: 3 years old
Gender: Male
MRI

There are bilateral cortical and subcortical high signal intensity lesions in both cerebral hemispheres on T1W, T2W and FLAIR images, without enhancement.

There are multiple subependymal nodules which appear hyperintense on T1W and hypointense on T2W images with obvious enhancement.

Ultrasound

Cardiac ultrasound

Well defined hyperechoic lesion attached to the right ventricular wall through the subxiphoid cardiac ultrasound window.

Case Discussion

The appearances are compatible with tuberous sclerosis with cortical-subcortical tuberous and subependymal hamartomas.

No renal lesions were detected on abdominal ultrasound.

A cardiac rhabdomyoma was demonstrated on subxiphoid cardiac ultrasound.

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Case information

rID: 70089
Published: 10th Aug 2019
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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