ArticleFrontiers in neurology2022
Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.
Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients.Orphanet journal of rare diseases · 2024Article
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10 authors.
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Abstract
Background: Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder with heterogeneous phenotype, including hypotonia, movement disorders, autonomic dysfunction, and developmental delay. Here, we reported a Chinese patient with AADCD who was initially misdiagnosed with epilepsy. Case presentation: The proband was a 4-month-old Chinese girl, representing hypotonia, episodes of oculogyric crises with dystonia, and delayed developmental milestones. The patient was first misdiagnosed with epilepsy because of the similarity between episodes of oculogyric crisis and epileptic seizure. The accurate diagnosis of AADCD was established through analysis of neurotransmitters in cerebrospinal fluid (CSF). The genetic test confirmed the patient carried novel compound heterozygous mutations in the Conclusion: This study reported a patient with AADCD who was initially misdiagnosed as epilepsy. Two novel missense mutations in the
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