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The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis

Claudia Ioana Borțea1, Vlad Laurentiu David2, Florina Stoica3

  • 1Department of Neonatology, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania.

Case Reports in Pediatrics
|April 2, 2020
PubMed

Insights

Tuberous sclerosis complex (TSC) is a genetic disorder often leading to autism and epilepsy. Prenatal imaging and postnatal exams aided in diagnosing TSC in an infant, confirming the utility of established diagnostic criteria.

Area of Science:

  • Genetics and Developmental Disorders
  • Pediatric Neurology
  • Medical Imaging

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder characterized by multisystemic involvement and significant phenotypic variability.
  • TSC frequently co-occurs with neurological and neurodevelopmental conditions, including autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment.

Observation:

  • This report details the case of an infant suspected of having TSC based on prenatal imaging findings.
  • A comprehensive diagnostic approach was employed, including pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations.

Findings:

  • The diagnostic process confirmed Tuberous Sclerosis Complex in the infant.
  • The study highlights the effectiveness of integrating various imaging modalities and clinical examinations for early and accurate TSC diagnosis.

Implications:

  • Early diagnosis of TSC through prenatal and postnatal assessments is crucial for timely intervention and management.
  • Adherence to the established seven major and minor criteria is sufficient for definitive TSC diagnosis, guiding clinical practice.

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