Abstract
Citrullinemia type I (CTLN1) clinical spectrum includes an acute neonatal form ("classic" form) and a milder late-onset form (“non-classic" form). Infants with classic form appear normal at birth. Shortly thereafter, they experienced hyperammonemia and develops symptoms. Without prompt intervention, rapid neurological deterioration with seizures, spasticity, loss of consciousness and even death can occur. Continuous venovenous hemofiltration should be started in neonates and children with ammonia levels > 500 µmol/L or even at lower levels if there has been an inadequate response to medical management after 4 hours. Alternatively, but only in centers that lack ability or expertise to perform extracorporeal therapy, peritoneal dialysis can be utilized. The hallmarks of dialysis is rapid lowering of plasma ammonia concentration to avoid neurotoxicity and irreversible brain damage.
Objectives
To evaluate the effect of peritoneal dialysis on plasma ammonia levels and the clinical outcome in an encephalopathic Egyptian patient with CTLN1.
Patient and Methods
A 2.5 year old male patient with a classical form of CTLN1was recruited. The first presenting symptom of the patient was poor suckling and disturbed conscious level at the age of 5 day. He was admitted to neonatal intensive-care unit (NICU) with hyperammonemic encephalopathy and abnormal pattern of breathing. He developed apneic attack and underwent mechanical ventilation. The diagnosis of CTLN1 was established with elevated plasma ammonia concentration (350 µmol/L) and plasma citrulline concentration (2570 µmol/L). The patient was managed with peritoneal dialysis for 4 days, together with protein restriction, sodium benzoate, arginine therapy and high caloric intake.
Results
Plasma ammonia level was decreased with improvement of general condition and conscious level after dialysis. Upon discharge from NICU, the patient was referred to our Genetic clinic and no history of further hospital admission since then. Mild developmental delay mainly cognitive was noted during his regular clinic follow up.
Conclusion
CTLN1 can present with hyperammonemic encephalopathy which could be lethal if not promptly managed. Peritoneal dialysis proved to be an effective therapy of reducing plasma ammonia rapidly and improving outcome of the patient.
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I