Anaesthesia challenges for a patient with phosphoglycerate kinase deficiency undergoing open gastrostomy procedure: a case report

We describe the pre- and perioperative management of a paediatric patient with phosphoglycerate kinase 1 deficiency (PGK1D), a rare inborn error of glycogen metabolism. While sharing many features of other well-described glycogen storage disorders, there are some considerations unique to PGK1D for providing safe anaesthesia in this unique patient population.

A four-year-old, 11.2 kg boy with a known diagnosis of PGK1D was scheduled for an open gastrostomy procedure to facilitate enteral nutrition due to chronic oral aversion. He previously underwent a splenectomy and orthotopic liver transplant as an infant, having presented with liver failure of unknown etiology, characterised by conjugated hyperbilirubinemia, hypoglycaemia, transaminitis, and haemolytic anaemia. Following his liver transplant, he developed intermittent episodes of rhabdomyolysis, seizures, and ultimately developed a progressive myopathy with global developmental delay. Preoperative investigations showed a mild macrocytic hyperchromic anaemia, preserved liver synthetic function, low-grade transaminitis, and normal renal profile.

Intravenous induction proceeded uneventfully using 30 mg of propofol and 10 mcg of fentanyl. The patient was intubated with a cuffed endotracheal tube following a single bolus of 2 mcg/ kg of remifentanil. Maintenance anaesthesia was achieved intravenously with propofol 10-14 mg/kg/hr and remifentanil 0.03-0.05 mcg/kg/min. Pre-incision, bilateral ultrasound-guided transverse abdominus (TAP) blocks were performed using a total of 10 ml of levobupivacaine 0.125%. Supplemental intravenous analgesia consisted of 150 mg of paracetamol and 11 mcg of clonidine. Following completion of the procedure, he was extubated and transferred to the recovery room.

To the authors' knowledge, this is the first published case of the perioperative management of a patient with PGK1D. Consent for publication was taken from the parents.

Phosphoglycerate kinase is an essential glycolytic enzyme catalysing the conversion of 1,3 diphosphoglycerate to 3-phosphoglycerate. As an X-linked mutation, males are predominantly affected. Mutations of the PGK1 gene result in clinically variable spherocytic haemolytic anaemia and variable defects in the central nervous system [1]. Rhabdomyolysis [2, 3], myopathy, migraine, and retinal involvement have also been reported as clinical consequences.

Multiple anaesthetic challenges for this child included managing a child with a rare undocumented inborn error of metabolism, liver transplant, myopathy, and developmental delay with limited ability to convey anxiety and pain.

Thorough preoperative evaluation is essential [4]. ECG and echocardiogram should be performed to exclude metabolically associated cardiomyopathy. Previous anaesthetic records should be reviewed specifically for access and airway difficulty, hemodynamic instability, and postoperative respiratory complications. Respiratory insufficiency and obstructive sleep apnoea are documented complications of PGK1D [5], and continuous positive airway pressure (CPAP) machines should be brought on the day of surgery. Liver function should be thoroughly interrogated [6], especially if a patient has previously undergone a liver transplant; this should include serum levels of immunosuppressant medications (e.g., tacrolimus) that may have effects on other organ systems (e.g., kidney).

PGK1D cases should be scheduled first to minimise fasting hours due to the risk of hypoglycaemia [7]. The need for premedication should be carefully balanced against the risk of persistent postoperative respiratory depression [7]. The use of neuromuscular blocking agents should be minimised, thus using remifentanil for intubation in this case.

Perioperative goals include maintaining normothermia and normoglycaemia, and minimising stimulation of the sympathoadrenal axis [8]. Bilateral TAP blocks were performed post-induction to minimise peri- and postoperative opioid use.

Specific intraoperative monitoring will be determined by the patient's preoperative functional status and the results of the above investigations. There are no documented contraindications for either inhalational or intravenous anaesthetic agents. Regional anaesthesia, including spinal, epidural, and peripheral nerve block, may be employed in a normal coagulation profile setting. Total intravenous anaesthesia (TIVA) was used in this case, aiming for rapid recovery, stable hemodynamic, and minimising postoperative nausea and vomiting [9].

PGK1D is a rare X-linked metabolic disorder with variable phenotype. Patients may present with a spectrum of illnesses depending on the extent and severity of organ system involvement. The above case report details a number of steps that were safely used in a patient with PGK1D, and we encourage other clinicians to publish their experiences dealing with this unique patient population to understand better how patients with PGK1D react to general anaesthesia.