The Turkish Journal of Pediatrics
2017 , Vol 59 , Num 6
First manifestation of citrullinemia type I as Sandifer syndrome
1 Divisions of Metabolism, Dr. Sami Ulus Children Hospital, Ankara, Turkey2 Department of Pediatrics, Dr. Sami Ulus Children Hospital, Ankara, Turkey
3 Pediatric Neurology, Dr. Sami Ulus Children Hospital, Ankara, Turkey
4 Department of Pediatric Metabolism, Kırıkkale University, Faculty of Medicine, Kırıkkale, Turkey
5 Division of Metabolism and Children’s Research Center, University Children’s Hospital, Zurich, Switzerland DOI : 10.24953/turkjped.2017.06.013 Kılıç M, Altınel-Açoğlu E, Zorlu P, Yüksel D, Bülbül S, Haeberle J. First manifestation of citrullinemia type I as Sandifer syndrome. Turk J Pediatr 2017; 59: 696-698.
We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is the first report of a Sandifer syndrome-like presentation of citrullinemia type I. This paper suggests that suspicion of Sandifer syndrome should also lead to inclusion of urea cycle disorders in the list of differential diagnoses.
Keywords : citrullinemia type I, Sandifer syndrome, hyperammonemia, vomiting