How is tuberous sclerosis diagnosed in infantile spasm (West syndrome)?

Updated: Jan 11, 2019
  • Author: Tracy A Glauser, MD; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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Answer

Evaluating children with infantile spasms for possible tuberous sclerosis is critical, as this is the single most common disorder, accounting for 10-30% of prenatal cases of infantile spasm. Tuberosis sclerosis is an autosomally dominant inherited disease with variable manifestations, including cardiac tumors, kidney tumors, cutaneous malformations such as ash-leaf hypopigmented lesions, and seizures.

In more than a few patients, the family diagnosis of tuberous sclerosis is found only after a child presents with infantile spasms, and an extensive workup of the child and, subsequently, the family reveals the genetic disease. Two-thirds of patients with tuberous sclerosis have a de novo mutation.


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