CASE SERIES ON BRAIN MR AND ABDOMINAL ULTRASOUND FINDINGS IN ADULTS WITH TUBEROUS SCLEROSIS COMPLEX WITH DIFFERENT NEUROLOGICAL MANIFESTATIONS

Background / Objective
Tuberous sclerosis (TS), also known as Pringle-Bourneville's syndrome, is a genetic disorder caused by mutations in the
TSC1 or TSC2 genes. While approximately half of cases are inherited, the remaining cases are sporadic. TS is
characterized by hamartomas in various organs, leading to diverse clinical symptoms, which can complicate diagnosis.
Diagnostic criteria include two major or one major and two minor criteria, with nine of the twenty requiring imaging.
Radiology, especially MRI, plays a vital role in diagnosing TS by identifying key manifestations such as intracranial
subependymal nodules, cortical tubers, and other lesions. This review focuses on the brain MR and renal, liver US imaging
findings in two patients with tuberous sclerosis complex.
Methods
A prospective observational study was conducted in a tertiary university hospital. Clinical and radiological findings were
assessed prospectively. This case series involved two patients diagnosed with TS. The first patient was a 42-year-old
female, and the second was a 41-year-old male. Both patients underwent comprehensive ultrasound and MRI examinations
to follow up and characterize hepatic, renal, and brain lesions. Lesions were assessed for number, size, and presence of
complications. The imaging findings were correlated with clinical data to analyze the characteristics of renal, hepatic, and
brain involvement in TS and to plan the subsequent management of these patients.
Results
Both patients in this study have previously known TS and underwent follow-up ultrasound and magnetic resonance
examinations.
First female patient, who primarily complained of frequent headaches and dizziness without exhibiting intellectual disability
or seizures, MRI findings revealed subependymal nodules predominantly along the caudate nucleus and indications of
subcortical tubers in the frontal and parietal lobes, along with linear changes in the brain's white matter. Notably, no
significant MRI changes had occurred since 2017.
Conversely, the second male patient, experiencing frequent seizures, intellectual disability, and chronic insomnia, showed
different MRI findings. Bilateral subependymal nodules, along with cortical and subcortical tubers in both hemispheres, were
observed. Additionally, cortical dysplasia was noted in the left frontal lobe's dorsal parts, along with underdevelopment of the
corpus callosum in the splenium region and polymicrogyria in the right temporal lobe's upper and middle gyri.
Renal ultrasound revealed multiple bilateral angiomyolipomas (AMLs), with the largest lesions measuring 4.6 cm and 1 cm
in diameter, respectively. Additionally, both patients exhibited multiple small simple cysts in both kidneys, with no acute
complications such as hemorrhage noted. Hepatic ultrasound findings included small hepatic AMLs in both patients, with the
largest hepatic lesions measuring 0.5 cm.
Conclusions
Tuberous sclerosis presents multiorgan manifestations, where radiology plays a crucial role in diagnosing and managing
patients. Ultrasound and MR imaging in two patients diagnosed with TS unveiled substantial brain involvement
characterized by intracranial subependymal nodules, cortical tubers, and white matter heterotopia. Renal involvement was
prominent, featuring bilateral angiomyolipomas (AMLs) and cysts, while minor hepatic AMLs were also noted. These
findings are similar to those reported in the literature, underscoring the need for regular ultrasound and magnetic resonance
monitoring for early complication detection. Further studies with larger cohorts are necessary to better understand the
spectrum and progression of brain, hepatic and renal lesions in TS.