1. Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.
- Author
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Salazar‐Villacorta, Ainara, Spaull, Robert, Chowdhury, Samyami, Mukhtyar, Bina, Chitre, Manali, Armstrong, Ruth, Sa, Mario, Chandratre, Saleel, Kini, Usha, Chinthapalli, Ravi, Mankad, Kshitij, Sudhakar, Sniya, Pope, Simon, Heales, Simon, and Kurian, Manju A.
- Subjects
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MOVEMENT disorders , *NEURAL transmission disorders , *NEONATAL intensive care units , *PEDIATRIC neurology , *GENETIC disorders , *COMPARATIVE genomic hybridization - Abstract
This article presents two case reports of children with neurotransmitter disorders associated with dual pathology. The first case involves a girl who was initially misdiagnosed due to the presence of other genes within her chromosomal microdeletion. The second case involves a girl who was initially diagnosed with cerebral palsy but was later found to have sepiapterin reductase deficiency. The article emphasizes the importance of considering dual pathology and avoiding premature diagnostic closure in the diagnosis of neurotransmitter disorders. It also highlights the significance of recognizing red flags and conducting appropriate investigations for early intervention and maximizing treatment benefits. Treatment with levodopa and 5-hydroxytryptophan resulted in positive responses and improved long-term outcomes for both patients. [Extracted from the article]
- Published
- 2024
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