Case Report: Perioperative Management of a Patient with Glycogen Storage Disease Type IXd.

INTRODUCTION

Glycogen storage disease type IX (GSD type IX) is caused by a deficiency in phosphorylase b kinase (PHK) and is classified into hepatic (IXa-c) and muscular (IXd) subtypes. GSD type IXd leads to exercise intolerance, rhabdomyolysis, and myoglobinuria owing to impaired glycogen breakdown. It is a rare and mild metabolic disorder, with only 19 reported cases of PHKA1 mutations. To the best of our knowledge, this is the 1st report on the perioperative management of a patient with GSD type IXd.

CASE PRESENTATION: A 61-year-old male presented with a right inguinal hernia requiring surgical repair. He had experienced muscle weakness since the age of 53, which progressed to severe neck muscle atrophy by the age of 58. Genetic testing confirmed a PHKA1 mutation, leading to the diagnosis of GSD type IXd. He had previously undergone multiple surgeries without any complications. Given his underlying muscle weakness, totally extraperitoneal (TEP) inguinal hernia repair was performed to minimize postoperative pain and muscle damage. Postoperative monitoring revealed no rhabdomyolysis or myoglobinuria, and the patient was discharged without complications on POD 7.

CONCLUSIONS

We successfully managed a patient with GSD type IXd perioperatively, without complications. Although this disease can cause rhabdomyolysis, the symptoms are often mild and may remain undiagnosed. Therefore, in patients with muscle weakness or elevated creatine kinase levels, careful surgical planning and perioperative monitoring are essential.