[P1-167] Clinical and Radiological Profile and Outcome of Children with Glutaric Aciduria type 1
Introduction: To describe the clinical, radiological and biochemical profile and outcome of children with glutaric aciduria type 1 from a developing country
Methodology: Retrospective review of 17 children diagnosed with GA-1 from April to October2016.
Results: Median age at the onset of neurological symptoms was 6.5 months (range 3 to 12 months). Median age at diagnosis was 13 months (5 months to 6 years). Males were 82%. Presenting symptoms included dystonia (82%), global developmental delay (53%), neuroregression (41%), pseudo-encephalitis (24%), progressive head growth (24%) and seizures (18%); one patient was paucisymptomatic (6%). A triggering febrile illness was noted in 53% of children. Similar family history was noted in three patients (18%). Axial hypotonia (82%), dystonia (82%) and normal head size (47%) were predominant; 35% had macrocephaly. All children were diagnosed on the basis of tandem mass spectrometry/gas chromatography. Neuroimaging showed bilateral basal ganglia hyperintensities (76%), open opercula (75%), deep white-matter changes (41%), bilateral arachnoid cysts (24%), subdural hemorrhage (18%), subdural hygroma (18%), diffuse cerebral atrophy (13%) and midbrain hyperintensities (6%); one patient did not undergo neuroimaging. The follow-up duration ranged from 1 to 7 years. None of the patients had repeat crisis. Two patients (12%) expired after the initial illness, one patient (6%) is bed-bound and vegetative; rest 82% have persisting developmental delay.
Conclusions: Our study presents the largest clinical series on children with glutaric aciduria from India. It is important to recognize the clinical and radiological spectrum of glutaric aciduria in resource-constraints settings where genetic testing is not available.
Methodology: Retrospective review of 17 children diagnosed with GA-1 from April to October2016.
Results: Median age at the onset of neurological symptoms was 6.5 months (range 3 to 12 months). Median age at diagnosis was 13 months (5 months to 6 years). Males were 82%. Presenting symptoms included dystonia (82%), global developmental delay (53%), neuroregression (41%), pseudo-encephalitis (24%), progressive head growth (24%) and seizures (18%); one patient was paucisymptomatic (6%). A triggering febrile illness was noted in 53% of children. Similar family history was noted in three patients (18%). Axial hypotonia (82%), dystonia (82%) and normal head size (47%) were predominant; 35% had macrocephaly. All children were diagnosed on the basis of tandem mass spectrometry/gas chromatography. Neuroimaging showed bilateral basal ganglia hyperintensities (76%), open opercula (75%), deep white-matter changes (41%), bilateral arachnoid cysts (24%), subdural hemorrhage (18%), subdural hygroma (18%), diffuse cerebral atrophy (13%) and midbrain hyperintensities (6%); one patient did not undergo neuroimaging. The follow-up duration ranged from 1 to 7 years. None of the patients had repeat crisis. Two patients (12%) expired after the initial illness, one patient (6%) is bed-bound and vegetative; rest 82% have persisting developmental delay.
Conclusions: Our study presents the largest clinical series on children with glutaric aciduria from India. It is important to recognize the clinical and radiological spectrum of glutaric aciduria in resource-constraints settings where genetic testing is not available.