Quiz Form

Question Date: 14/09/2023

Question: Which of the following statements is false regarding the disease of this child?

Options:

• She has Rett's syndrome due to MECP2 mutation
• There is abnormal lipid metabolism
• This disease has phenotypic heterogeneity
• Forme Fruste variant is the classic syndrome with severe neuroregression

Correct Answer: Forme Fruste variant is the classic syndrome with severe neuroregression

Explaination: Forme fruste variant of Retts syndrome is the most common atypical variant accounting for 80% of cases well-preserved motor skills and only subtle neurological abnormalities such as mild hand dyspraxia.

Reference: Kyle, S. M., Vashi, N. & Justice, M. J. Rett syndrome a neurological disorder with metabolic components. Open Biol 8, 170216 (2018).