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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 1. Seizure, 3. Mental retardation, 4. Adenoma sebaceum]

Multiple Choice Questions in Neurology:

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 

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

Location: India

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