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The clinical and paraclinical manifestations of tuberous sclerosis complex in children

Mohammad Barzegar1, Bita Poorshiri2, Leila Yousefi3

  • 1Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. mm_barzegar@yahoo.com.

Acta Neurologica Belgica
|March 19, 2021
PubMed

Insights

Tuberous sclerosis complex (TSC) is a genetic disorder causing tumors in multiple organs. This study highlights common TSC symptoms in children, including brain and skin issues, seizures, and psychological disorders, emphasizing regular monitoring for early intervention.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Dermatology

Background:

  • Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder.
  • It is characterized by hamartomas affecting multiple organs.
  • Early identification and management are crucial due to potential life-threatening complications.

Purpose of the Study:

  • To evaluate the clinical and paraclinical manifestations of TSC in a pediatric cohort.
  • To identify the most common symptoms and affected organs in children with TSC.
  • To explore correlations between different clinical factors.

Main Methods:

  • Retrospective analysis of clinical and paraclinical data from 79 children diagnosed with TSC.
  • Evaluation of demographic data, common TSC findings, and organ-specific manifestations.
  • Statistical analysis to determine correlations between factors, including psychological disorders and seizures.

Main Results:

  • The most frequent findings were skin manifestations (hypopigmented macules), brain involvement (cortical tubers, subependymal nodules), and seizures.
  • Renal angiomyolipoma, subependymal giant cell astrocytoma, retinal hamartoma, and cardiac rhabdomyoma were also observed with varying frequencies.
  • A significant correlation was found between psychological disorders and seizures (p=0.002).

Conclusions:

  • TSC presents with diverse clinical manifestations in children, necessitating comprehensive evaluations.
  • Regular monitoring of all organs, especially the brain and kidneys, is vital for timely intervention and preventing disease progression.
  • Understanding these manifestations aids in optimizing patient care and improving outcomes for children with TSC.

Keywords:
ChildrenClinical manifestationsParaclinical manifestationsTuberous sclerosis complex

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