Tuberous Sclerosis

Multiple Choice Questions in Neurology:

What are the triads of Tuberous sclerosis?
  1. Seizure
  2. Focal cortical atrophy
  3. Mental retardation
  4. Adenoma sebaceum
  5. Port wine nevus

Tuberous Sclerosis

  • Tuberous sclerosis is also known as Bourneville disease

Inheritance

  • Autosomal dominant inheritance
  • Tuberous sclerosis 1 (TSC1): HAMARTIN (chromosome 9q32-34)
  • Tuberous sclerosis 2 (TSC2): TUBERIN (chromosome 16p13.3): Most common

Clinical Features

  • Childhood onset
  • Multiple Ectodermal Benign Tumours
    • Skin: sebaceous glands
    • Eyes: retina
    • Nervous system: brain, spinal cord
  • Mental retardation, learning difficulty, attention deficit hyperactivity disorder (ADHD) are common.
  • Multiple hamartomas
  • Brain histopathology shows disorganized cortical lamination with indistinct gray and white matter junction.
  • Cardiac rhabdomyomas are multiple hamartomas that usually regress over time. Cardiac rhabdomyoma (benign tumors) may present in 50% of patients. The incidence in the newborn may be as high as 90% and in adults as low as 20%. These tumors grow during the second half of pregnancy and regress after birth. Many will disappear entirely.

Vogt triad: The complete triad is seen in 30% of patients

  1. Seizures
  2. Mental retardation
  3. Adenoma sebaceum

[Tumor = Mass (MAS => Mental retardation, Adenoma sebaceum, Seizures)]

Reference(s):

  • Curatolo, Paolo, and Roberta Bombardieri. "Tuberous sclerosis." Handbook of clinical neurology 87 (2007): 129-151.
  • Roach, E. S., Manuel R. Gomez, and Hope Northrup. "Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria." Journal of child neurology 13.12 (1998): 624-628.

[Answers are A. Seizure, C. Mental retardation, D. Adenoma sebaceum]

Kindly let me know your answers and review by comments below:

All are true about Tuberous sclerosis, except:

  1. Symptoms appear in fifth decade
  2. Cardiac tumor present in small number of cases
  3. Seizure is rare
  4. Mental retardation
  5. Normal brain biopsy

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