BACKGROUND

Only isolated case reports of type 1 citrullinemia(CIT1) are available in literature and most represent the classical neonatal form only. Hence, we performed this study with an objective to explore the clinical profile of children with CIT1.

METHODS

Retrospective chart review at tertiary pediatric centre in southern India between January 2010 and May 2018. All children with CIT1 confirmed by TMS were included.  The clinical data and the follow up details were collected. Simple descriptive statistics were used to analyse the data.

RESULTS

Out of 6 children, 2(33%) were the classical neonatal form and 4(67%) were non classical form. Male to female ratio was 5:1. Mean age of onset of symptoms in the classical form was 8.5 days and 12.5 months in non classical form. Mean age of presentation was 8.5 days in classical form and 23 months in non classical form. Consanguinity, delayed milestones, seizures, elevated serum ammonia, elevated citrulline in Tandem Mass Spectroscopy (TMS) were present in all (100%). Among the non classical form, 3(75%) had acute encephalopathy, cyclical vomiting, failure to thrive and respiratory alkalosis. Neuroimaging revealed white matter changes in 3(50%) with basal ganglia involvement in 2(33%) and cerebral oedema in 1(17%). On follow up, 2(33%) had expired, 3(50%) are ambulatory and gaining new milestones and 1(17%) has neurologic sequelae.

CONCLUSION

Suspect CIT1 classic form in a neonate with acute encephalopathy. Suspect non classic form in any child who presents after 1 year of life with development delay/regression, seizures, encephalopathy and cyclical vomiting.