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Tuberous sclerosis in a 16 years old female: A case report.


ABSTRACT:

Introduction

Tuberous sclerosis complex (TSC) is an uncommon multisystem disorder that can affect the lungs, skin, kidneys, and brain. The study highlights the importance of genetic and clinical diagnostic criteria in identifying this rare condition and the role of surveillance in preventing complications.

Case presentation

Herein, we report a case of 16 years old female presenting with right flank pain, hematuria, hypopigmented macule over the back, ash leaf spots over the right upper and lower limb, and a palpable mass over the right lumbar region. Laboratory tests showed low hemoglobin with plenty of red blood cells in urine. She was admitted for symptomatic management of pain and blood transfusion was done to manage anemia. After a diagnostic workup for tuberous sclerosi

SUBMITTER: Ashfaq F 

PROVIDER: S-EPMC8844758 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature