10 Questions
What is the primary reason for the child being brought to the pediatrician?
Developmental regression
What is the expected growth pattern in a child with Rett syndrome?
Deceleration in head growth
What is the significance of stereotypical hand movements in this patient?
Supports a diagnosis of Rett syndrome
What is the genetic basis of Rett syndrome?
Mutation in the MECP2 gene
What is the name of the syndrome characterized by the symptoms described in the case?
Rett syndrome
What is the most likely explanation for the deceleration in head growth in this patient?
Increased apoptosis in the brain due to MECP2 mutation
What is the likely fate of the neurons affected by the MECP2 mutation in this patient?
They will undergo apoptosis leading to neuronal loss
What is the primary mechanism underlying the loss of purposeful hand skills in this patient?
Dysregulation of gene expression leading to neuronal dysfunction
What is the expected impact of the MECP2 mutation on the patient's cognitive development?
It will result in cognitive regression and loss of acquired skills
What is the likely outcome of the patient's communication skills over time?
They will decline and eventually become non-verbal
Study Notes
Developmental Regression in a 3-year-old Girl
- A 3-year-old girl is brought to the pediatrician due to developmental regression, having previously met developmental milestones but now showing a loss of acquired skills.
- The child exhibits stereotypical hand movements, including wringing and washing, indicating a potential neurological disorder.
- There is a loss of purposeful hand skills, suggesting a decline in fine motor abilities.
- Deceleration in head growth compared to peers is a notable physical finding, indicating a possible neurodevelopmental disorder.
- Genetic testing reveals a mutation in the MECP2 gene, a key indicator of a specific genetic disorder.
- The combination of symptoms and genetic mutation points to a likely diagnosis of Rett syndrome.
Developmental Regression in a 3-year-old Girl
- A 3-year-old girl is brought to the pediatrician due to developmental regression, having previously met developmental milestones but now showing a loss of acquired skills.
- The child exhibits stereotypical hand movements, including wringing and washing, indicating a potential neurological disorder.
- There is a loss of purposeful hand skills, suggesting a decline in fine motor abilities.
- Deceleration in head growth compared to peers is a notable physical finding, indicating a possible neurodevelopmental disorder.
- Genetic testing reveals a mutation in the MECP2 gene, a key indicator of a specific genetic disorder.
- The combination of symptoms and genetic mutation points to a likely diagnosis of Rett syndrome.
A 3-year-old girl's developmental regression is investigated, revealing a mutation in the MECP2 gene. Identify the likely diagnosis. This quiz covers genetic disorders affecting child development.
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