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An infant with Joubert syndrome: A case report
Shehroze Tabassum1, Aroma Naeem1, Rana Uzair Ahmad1
1King Edward Medical University, Nila Gumbad Chawk, Lahore, Punjab, 54000, Pakistan.
Radiology Case Reports
|December 9, 2022
Summary
Joubert syndrome is a rare neurological disorder causing developmental delays and muscle issues. This case highlights a pure form diagnosed via the molar tooth sign, emphasizing early recognition for potential multi-organ involvement.
Area of Science:
- Neurology
- Developmental Pediatrics
- Genetics
Background:
- Joubert syndrome is a rare genetic disorder affecting brain development.
- It typically presents with hypotonia, ataxia, and developmental delays.
- Joubert syndrome-related disorders can involve multiple organ systems, leading to complex health issues.
Observation:
- A case of pure Joubert syndrome is presented.
- The patient exhibited classic symptoms: developmental delay, decreased muscle tone, and ataxia.
- No other organ systems were found to be affected in this specific case.
Findings:
- The molar tooth sign on MRI was crucial for diagnosing this case of Joubert syndrome.
- This presentation represents a 'pure' form of the syndrome, lacking systemic involvement.
- Conservative management with symptomatic treatment was employed.
Implications:
- Early identification of Joubert syndrome is critical, even in its pure form.
- The molar tooth sign is a key diagnostic indicator for Joubert syndrome.
- Awareness of pure Joubert syndrome is important for clinicians managing infants with neurodevelopmental symptoms.
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