Tuberous sclerosis

Case contributed by Dr. Tarek Moustafa Essam Daoud

Presentation

Hematuria and bilateral loin pain. Hyperemic skin lesions of the face and extremities.

Patient Data

Age: 25 years
Gender: Female
CT

Brain

Subependymal calcified nodules are noted, suggestive of subependymal hamartomas. 

CT

Chest

Multiple bilateral variable-sized thin-walled cysts as well as bilateral scattered pulmonary nodules. These features in light of the patient’s history are highly suggestive of pulmonary lymphangioleiomyomatosis.

CT

Abdomen

Heterogenous retroperitoneal densities containing areas of fat densities and initially hyperdense areas as well as areas of soft tissue components, likely representative of bilaterally enlarged kidneys with giant angiomyolipomas.

Case Discussion

Angiomyolipomas (AML) are present in 80% of patients with tuberous sclerosis. Patients with a ruptured renal AML often present with pain or shock at acute onset. Renal AML in patients with tuberous sclerosis is one of the main causes of morbidity and mortality and a leading cause of death. Renal AML is a silent killer and rarely presents with manifestations until it’s too late. Early diagnosis and follow-up are key to prevent complications.

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Case information

rID: 80076
Published: 19th Jul 2020
Last edited: 20th Jul 2020
Inclusion in quiz mode: Included