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.