A Classic Case of Tuberous Sclerosis with Multisystem Involvement Including Giant Bilateral Renal Angiomyolipomas Presenting as Massive Hematuria.
BACKGROUND
Tuberous Sclerosis (TSC) also known as Bourneville disease is a neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condition has a high rate of spontaneous mutation. It is the second most common neurocutaneous syndrome after neurofibromatosis. This disease demonstrates a widespread potential for hamartomatous growths in multiple organ systems.


METHODS
We report a case of a 36-year-old female with TSC presenting as massive hematuria with underlying giant bilateral renal angiomyolipomas (AML) with estimated total tumor burden of more than 8 kg which is to the best of our knowledge the highest ever reported. The patient also had lymphangioleiomyomatosis and lesions in the brain, skin, teeth and bones.


CONCLUSIONS
TSC has a wide variety of clinical and radiologic manifestations. It should be suspected when some of the common radiological manifestations are found, including CNS involvement, renal and hepatic AMLs and LAM, even if clinical signs are not obvious. Renal AMLs in setting of TSC may reach giant proportions and may present with massive hematuria.
Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India.
Kewal A
KA
Mistry
Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India.
Dinesh
D
Sood
Department of Radiology, Indira Gandhi Medical College, Shimla, India.
Rohit
R
Bhoil
Department of Community Medicine, Dr. Rajendra Prasad Government Medical College, Kangra, India.
Veenal
V
Chadha
Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India.
Ajay K
AK
Ahluwalia
Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India.
Saurabh
S
Sood
Department of Radiology, Baroda Medical College, Vadodara, India.
Pokhraj P
PP
Suthar
Angiomyolipoma; Congenital Abnormalities; Lymphangioleiomyomatosis; Tuberous Sclerosis