Anesthetic experience of an adult male with citrullinemia type II: a case report

Abstract

BackgroundCitrullinemia type II is an autosomal recessive urea cycle disorder and a subtype of citrin deficiency. However, the management of recurrent hyperammonemia with neurologic symptoms in patients with citrullinemia type II is quite different from the management of other types of urea cycle disorders. In pats with citrullinemia type II, regional anesthesia might be a good choice for the early detection of hyperammonemic symptoms and addressing psychic stress.Case presentationA 48-year-old male with adult onset citrullinemia type II was scheduled for urethral scrotal fistula repair. During the first operation, spinal anesthesia with conscious sedation using dexmedetomidine was used, a second operation was performed after confirmation of infection control and a stable neurologic condition. In this patient, dietary planning with close monitoring of serum ammonia level and close observation of neurologic conditions might lead to successful perioperative care.ConclusionFor anesthesia of patients with adult onset citrullinemia type II, close monitoring of neurologic signs and serum ammonia are important to reduce neurologic complications induced by hyperammonemia. Regional anesthesia with a proper dietary plan might reduce patient stress and prevent metabolic tragedy.

Desflurane and remifentanil anesthesia in a child with citrin deficiency

“…[10] Therefore, previous studies have emphasized anesthetic techniques and regimens to minimize metabolic burden on the liver and reduce stress response to surgery and meticulous management of perioperative ammonia levels. [6,7,11] Despite her low BMI, our patient remained clinically asymptomatic and maintained ammonia and amino acid levels within the reference range with L-arginine medication and diet therapy. However, an abrupt increase in ammonia level after temporary interruption of nitrogen scavenging medication suggested that she was likely to develop metabolic deterioration and hyperammonemia in response to surgical stress in the perioperative period.…”

“…Delayed awakening after anesthesia remains a concern in surgical patients with citrullinemia. Previous case studies chose regional anesthesia as possible for early detection of hyperammonemia-related conscious disturbance and avoiding metabolic burden in surgical patients with citrullinemia [7] . We focused on selecting the least metabolizing and short-acting drugs to prevent hyperammonemia, disturbance of blood glucose control, and residual effect of anesthetic agents in our patient requiring general anesthesia.…”

“…Previous case studies reported delayed emergence from general anesthesia in a child with citrullinemia [6] and spinal anesthesia without significant neurologic events despite recurrent hyperammonemic episodes in adult patients with CTLN2. [7] However, case reports of anesthetic management in patients with citrin deficiency at different clinical stages are still sparse. Here, we report the case of a 5-year-old girl with citrin deficiency who recovered consciousness immediately after general anesthesia using desflurane and remifentanil for eye surgery.…”

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

“…Other case reports describe HA and a variety of associated symptoms, including headache, confusion, aggression, delusions, seizures, and coma in the postpartum period or following anesthesia or gastrectomy …”

“…97 Other case reports describe HA and a variety of associated symptoms, including headache, confusion, aggression, delusions, seizures, and coma in the postpartum period or following anesthesia or gastrectomy. [98][99][100] Although cases of NICCD and CTLN2 were described before 2000, 101,102 no data on cognitive functioning were reported. Pooled data on studies published after 2000 are presented in Table 1G.…”