Tuberous sclerosis complex

Case contributed by Liz Silverstone
Diagnosis almost certain

Presentation

Facial angiofibromas, mild intellectual impairment. Similar sibling.

Patient Data

Age: 45 years
Gender: Female
ct

Scattered lung cysts.

ct

Multiple calcified subependymal tubers.

Case Discussion

DIAGNOSES 1. Tuberous sclerosis complex/lymphangioleiomyomatosis, with recent chylothorax, insertion of Denver pleuroperitoneal shunt, pleurectomy and ligation of the thoracic duct. 2. Mild intellectual impairment. 3. Angiomyofibromas of the face. 4. Renal angiomyolipomas.

MRI (not shown): Several sub-cm calcified subependymal nodules. No obstructing lesion at the foramen of Monro and normal ventricular size. Cortical/subcortical tubers and white matter radiation lines in keeping with the history of tuberous sclerosis.

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