Podcast
Questions and Answers
What genetic inheritance pattern is associated with Joubert anomaly?
What genetic inheritance pattern is associated with Joubert anomaly?
- X-linked recessive
- Autosomal dominant
- Autosomal recessive (correct)
- Mitochondrial inheritance
Which of the following symptoms is commonly observed in patients with Joubert syndrome?
Which of the following symptoms is commonly observed in patients with Joubert syndrome?
- Visual agnosia
- Speech fluency
- Oculomotor apraxia (correct)
- Tinnitus
Which chromosome mutation is linked to some cases of Joubert syndrome?
Which chromosome mutation is linked to some cases of Joubert syndrome?
- Chromosome 15q12
- Chromosome 7p14
- Chromosome 9q34.3 (correct)
- Chromosome 2q35
What is the approximate prevalence of Joubert syndrome?
What is the approximate prevalence of Joubert syndrome?
What is a significant feature of the neuromotor development in individuals with Joubert syndrome?
What is a significant feature of the neuromotor development in individuals with Joubert syndrome?
What type of imaging typically demonstrates abnormalities in patients with Joubert syndrome?
What type of imaging typically demonstrates abnormalities in patients with Joubert syndrome?
Which of the following represents an increased risk associated with Joubert syndrome during medical treatment?
Which of the following represents an increased risk associated with Joubert syndrome during medical treatment?
What cognitive impairment range is typically observed in individuals with Joubert syndrome?
What cognitive impairment range is typically observed in individuals with Joubert syndrome?
Flashcards
Joubert Anomaly
Joubert Anomaly
An autosomal recessive disorder characterized by a variable degree of cerebellar vermis agenesis. It often presents with ataxia, dysmorphic facies, global developmental delay, hypotonia, rapid breathing, and oculomotor apraxia.
Joubert Syndrome and Related Disorders (JSRD)
Joubert Syndrome and Related Disorders (JSRD)
A condition related to Joubert Anomaly, but also includes anomalies in the kidneys, liver, and/or eyes.
Oculomotor Apraxia
Oculomotor Apraxia
A common feature of Joubert Syndrome, characterized by difficulty controlling eye movements.
Cerebellar Vermal Agenesis
Cerebellar Vermal Agenesis
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Ataxia
Ataxia
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Nystagmus
Nystagmus
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Ciliopathies
Ciliopathies
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Heterotopia
Heterotopia
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Study Notes
Joubert Anomaly (and Joubert Syndrome)
- Joubert anomaly, also known as vermian aplasia or molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder.
- Characterized by variable cerebellar vermal agenesis.
- When associated with kidney, liver, or eye anomalies, it's called Joubert syndrome or related disorders (JSRD).
- Prevalence is approximately 1 in 100,000.
Clinical Presentation
- Affected individuals often present with ataxia.
- Dysmorphic facial features are common.
- Global developmental delay is typical.
- Hypotonia (low muscle tone) is frequently observed.
- Rapid breathing (tachypnea) may occur.
- Oculomotor apraxia (difficulty with eye movements) is present.
- Cognitive impairment ranges significantly, from IQ 30 to 80, though assessment is challenging due to speech and motor deficits.
- Nystagmus (involuntary eye movements) and impaired smooth pursuit eye movements are common.
Genetic Basis
- Joubert syndrome is a genetically heterogeneous condition.
- Some cases involve mutations on chromosome 9q34.
- Many cases do not involve this chromosome.
- At least ten genes related to subcellular organelles (including primary cilia and basal bodies) are implicated.
- This classification places Joubert syndrome within the broader category of ciliopathies.
Imaging Findings
- Cross-sectional axial imaging reveals cerebellar dysplasia and heterotopia of cerebellar nuclei.
- Minor lateral ventriculomegaly (6-20%) and corpus callosal dysgenesis (6-10%) are sometimes present.
Prognosis and Management
- Long-term outcome data for children with Joubert syndrome is limited.
- Persistent neuromotor developmental delay is a common feature in surviving individuals.
- Patients with retinal dysplasia have a potentially poorer prognosis.
- Extreme caution is advised when administering agents that cause respiratory depression, as affected individuals are highly sensitive to these effects.
- Genetic counselling is essential due to the autosomal recessive nature of the condition.
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