Incidental finding of Tuberous Sclerosis Complex in a woman with
Hematuria: A Case Report of Renal Angiomyolipoma and Review of the
Literature
Abstract
Tuberous sclerosis complex (TSC) is a rare genetic multisystem disorder
that was first described by Von Recklinghausen. We report a case of a
female who initially presented with hematuria and was later found to
have multiple manifestations of the disease. The report emphasizes the
value of investigations on suspected cases.
Keywords: Angiofibroma, Angiomyolipoma, Hematuria, Radial migration
lines, Subependymal nodules, Tuberous sclerosis complex.
Introduction
Tuberous sclerosis (TS) is a rare autosomal dominant multisystem
disorder which was described firstly by Von Recklinghausen and later by
Desiree-Magloire Bourneville. The condition has a prevalence ranging
from 1:6000 to 1:10000 live births and with a population prevalence of
1: 20,000. With the use of most recent diagnostic criteria a study in
Germany estimated the incidence rate of the disease from 1:6760 to
1:13,520 live births. People of any age group, sex or ethnic group can
be affected with the condition.
Tuberous Sclerosis Complex 1 (TSC 1) or Tuberous Sclerosis Complex 2
(TSC 2) are two genes linked to the formation of hamartomas in various
organs of the body including brain, kidneys, skin, lungs and liver.
Seizures, angiofibromas and mental retardation are a part of classic
triad of TS that is seen in only 29% of the patients. We describe the
case of a 26 years old female who presented with a complain of hematuria
in the emergency department of tertiary care center in Nepal.
Case presentation
A, 26 years old female, presented to emergency department with complains
of bleeding during micturition for one week and lower abdominal pain of
five days. Bleeding was sudden on onset and persistent for about a week
followed with abdominal pain on the lower region. There were no
associated gastrointestinal symptoms. There was no prior history of loss
of consciousness, seizure, shortness of breath, hemoptysis, chest pain,
flank pain, renal stones or other genitourinary disease. There was no
history of hypertension, diabetes mellitus, bleeding disorder or
tuberculosis. There was no history of similar illness or any lung
disease in the family. She is a non-smoker and non-alcoholic.
On examination, she had multiple facial angiofibroma and multiple
fibrous plaque on forehead as in Figure 1, 2. Her organ system
examination was found to be normal except for mild suprapubic fullness
which was non tender on palpation and dull on percussion.