CASE 2288 Published on 03.03.2005

Abdominal involvement in tuberous sclerosis complex

Section

Abdominal imaging

Case Type

Clinical Cases

Authors

Crocetti L, Cosottini M, Lencioni R

Patient

34 years, female

Categories
No Area of Interest ; Imaging Technique Ultrasound, CT, CT, MR, MR, CT
Clinical History
This pertains to the routine abdominal ultrasound examination on an asymptomatic patient.
Imaging Findings
A routine abdominal ultrasound examination was performed on an asymptomatic patient, following left quadrantectomy for breast cancer 3 months previously. The patient had undergone surgical repair of an interatrial defect 20 years before. The patient therefore underwent abdominal CT and MRI.
Discussion
Tuberous sclerosis is an autosomal dominant inherited disorder with a variable expressivity and high penetrance that demonstrates a widespread potential for hamartomatous growths in multiple organ systems. A gene locus on the 9q32-34 region has been found in approximately one-third of families, and a mutation of a chromosome 11 locus has also been identified. The classical clinical triad of adenoma sebaceum, seizure, and mental retardation is found in less than half of patients. Although the patient in this case did not display any neurological symptoms, the observation of liver and renal findings, associated with the cutaneous lesion, suggested the possibility of abdominal involvement in a patient with tuberous sclerosis complex. Brain MRI and CT were therefore performed. Intracranial lesions comprise cortical tubers, white matter abnormalities, subependymal nodules, and subependymal giant cell astrocytoma. Extracranial lesions are found in cutaneous tissues (facial adenoma sebaceum, peri- or sub-ungual fibromas, and hypomelanotic macules), kidneys (renal cysts, and angiomyolipomas, found in 40%–80% of cases), heart (rhabdomyomas, found in 30%), lungs (cystic lymphangiomiomas, and chronic fibrosis, 1%), liver (leiomyomas, adenomas), spleen and pancreas (adenomas), and the musculoskeletal system (present in 50% of patients; lesions are primarily multiple bone islands in the diploic space, pelvis, and spine and cysts). Renal and liver lesions consist of variable amounts of vascular tissue, fat, and smooth muscle.
Differential Diagnosis List
Abdominal involvement in tuberous sclerosis complex.
Final Diagnosis
Abdominal involvement in tuberous sclerosis complex.
Case information
URL: https://www.eurorad.org/case/2288
DOI: 10.1594/EURORAD/CASE.2288
ISSN: 1563-4086