Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of
neurotransmitter synthesis. It presents with psychomotor delay,
dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hence, we are reporting this series with an objective to study profile and outcome of Indian children with AADC deficiency. In this retrospective review, all case records of genetically confirmed cases of AADC deficiency at the pediatric neurology department in a tertiary care hospital, from March 2014 to March 2020, were analyzed. The data were extracted in a predesigned proforma and analyzed. Out of seven cases, five were males. Median age of onset of symptoms was 4 months but median age of diagnosis was 12 months. All of them had developmental delay, oculogyric crisis,
dystonia, increased sweating, intermittent
fever, feeding and sleep disturbance, irritability,
failure to thrive, axial
hypotonia with dyskinetic
quadriparesis, and normal magnetic resonance imaging (MRI) of brain and electroencephalogram (EEG). All of them were treated with
pyridoxal 5-phosphate,
trihexyphenidyl and
pramipexole and six cases, in addition, were given
bromocriptine. One case was additionally treated with
selegiline. One case showed good improvement, five showed partial improvement, and one case expired. In conclusion, AADC deficiency should be suspected in any child with dyskinetic
quadriparesis, oculogyric crisis, autonomic disturbances like increased sweating, intermittent
fever, and sleep disturbance with normal neuroimaging.