Pediatric neurotransmitter disorders (PNDs) are a group of neurologic diseases associated with infantile or childhood onset of movement disorders (dystonia, parkinsonism etc.) oculogyric phenomena and autonomic changes with a common thread of dopamine and/ or serotonin. These uncommon disorders can often be suspected by a high prolactin and sometimes an elevated phenylalanine and confirmed by CSF analysis of neurotransmitter metabolites, pterins folates etc. There is scant literature from India on the prevalence of these disorders as CSF neurotransmitter studies are generally unavailable locally.

We did a retrospective analysis of 240 cases of suspected PNDs where frozen CSF samples were sent to University Children’s Hospital in Zurich (Prof N Blau and later B Thony). 181/240 had normal CSF neurotransmitters.   46/240 (19.16%) were suggestive of PNDs. 12 had GTPCH deficiency, 6 TH deficiency, 4  AADC deficiency ,3 PTPS deficiency, 3 DHPR deficiency and 1 SR deficiency. Common clinical presentations were global developmental delay(GDD)/developmental regression, hypotonia, progressive dystonia, brady/dyskinesia, seizures and oculogyric crisis. 30 /240 had other disorders (cerebral folate deficiency, CNS inflammation). Further analysis of follow up / outcome is ongoing and results will be presented.

Conclusion : Our retrospective cohort study reports the commonly encountered PNDs in a tertiary care hospital in Mumbai. Early diagnosis of PNDs are important because several are treatable.