[P3-84] Spectrum of Neurotransmitter Disorders in children with neurological disease - a single-center retrospective cohort study
[Aim] To determine the prevalence and spectrum of neurotransmitter disorders in children presenting with psychomotor retardation.
[Methodology] In this retrospective study, we included all patients who underwent cerebrospinal fluid(CSF) neurotransmitter measurement due to psychomotor retardation. Prevalence of neurotransmitter disorders was identified. We also analysed the correlations among homovallinic acid(HVA) and clinical, radiological and electrophysiological condition.
[Results] Total 250 patients were finally included between September 2009 and October 2016. The clinical indications for examination of CSF monoamines fell into 2 categories: movement disorders and epilepsy. 30(10.4%) patients with genetic disorders were identified, with 20 patients diagnosed as primary neurotransmitter disorders (including aromatic L-amino acid decarboxylase deficiency(AADC) and tyrosine hydroxylase deficiency, 5 patients with secondary neurotransmitter diseases (Rett syndrome with CDKL5 mutation, sulfite oxidase deficiency with SUOX mutation and neuronal ceroid lipofuscinosis with TPP1 mutation), 5 patients with non-neurotransmitter related disorders. Overall, there were 22.5% of patients showed altered HVA level. No significant correlations between HVA level and radiological and electrophysiological conditions were found. 92% of patients with genetics-confirmed neurotransmitter disorders had altered HVA level. There was no obvious overlap of HVA level between primary and secondary neurotransmitter diseases. In AADC patients that received gene therapy, the level of HVA increased with clinical improvement during serial follow- ups.
[Conclusions] Total 8% of our cohort had variable neurotransmitter disorders, and some had promising clinical improvements under treatment. Therefore, early diagnosis is warranted using CSF neurotransmitter measurement. HVA value could be a useful hint for differentiating between primary and secondary neurotransmitter diseases.
[Methodology] In this retrospective study, we included all patients who underwent cerebrospinal fluid(CSF) neurotransmitter measurement due to psychomotor retardation. Prevalence of neurotransmitter disorders was identified. We also analysed the correlations among homovallinic acid(HVA) and clinical, radiological and electrophysiological condition.
[Results] Total 250 patients were finally included between September 2009 and October 2016. The clinical indications for examination of CSF monoamines fell into 2 categories: movement disorders and epilepsy. 30(10.4%) patients with genetic disorders were identified, with 20 patients diagnosed as primary neurotransmitter disorders (including aromatic L-amino acid decarboxylase deficiency(AADC) and tyrosine hydroxylase deficiency, 5 patients with secondary neurotransmitter diseases (Rett syndrome with CDKL5 mutation, sulfite oxidase deficiency with SUOX mutation and neuronal ceroid lipofuscinosis with TPP1 mutation), 5 patients with non-neurotransmitter related disorders. Overall, there were 22.5% of patients showed altered HVA level. No significant correlations between HVA level and radiological and electrophysiological conditions were found. 92% of patients with genetics-confirmed neurotransmitter disorders had altered HVA level. There was no obvious overlap of HVA level between primary and secondary neurotransmitter diseases. In AADC patients that received gene therapy, the level of HVA increased with clinical improvement during serial follow- ups.
[Conclusions] Total 8% of our cohort had variable neurotransmitter disorders, and some had promising clinical improvements under treatment. Therefore, early diagnosis is warranted using CSF neurotransmitter measurement. HVA value could be a useful hint for differentiating between primary and secondary neurotransmitter diseases.