RESUMEN
BACKGROUND: We report the anesthetic management of inguinal hernia repair for an infant with subglottic stenosis. A previously scheduled operation had been cancelled due to unexpected airway trouble during the induction. CASE PRESENTATION: A boy was born at 24 weeks of gestation and his trachea was intubated for 45 days. At 16 months old, surgery for inguinal hernia was planned, but cancelled due to unexpected narrow airway, and subglottic stenosis was first suspected. At 17 months old, he was transferred to us for inguinal hernia surgery. After careful discussion between the surgical team and the anesthesiologists, a strategy to manage this patient was developed. He underwent open hernia surgery under spinal anesthesia and diagnostic rigid bronchoscopy under tubeless general anesthesia separately, which revealed low-grade stenosis and some subglottic cysts. The postoperative course was uneventful. CONCLUSION: Interdepartmental discussion weighing risks and benefits may deduce the safest and most appropriate anesthesia method.
RESUMEN
BACKGROUND Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthetase (GSS) gene variants that occur in 1 in 1 million individuals. The severe form of GSD is characterized by hemolytic anemia, metabolic acidosis with 5-oxoprolinuria, progressive neurological symptoms, and recurrent bacterial infections. This case report presents a male Japanese infant with severe hemolytic anemia and metabolic acidosis at birth caused by GSD, who developed progressive neurological symptoms on follow-up. CASE REPORT A Japanese male term infant developed severe hemolytic anemia and metabolic acidosis in the early neonatal period. We suspected GSD based on his symptoms and a high 5-oxoproline urine concentration. We began correcting his metabolic acidosis and administering vitamins C and E supplements. The patient required blood transfusion twice during the acute phase for hemolytic anemia. After age 1 month, he maintained good control of metabolic acidosis and hemolytic anemia. A definitive diagnosis of GSD was made based on high concentrations of 5-oxoproline in urine, low concentrations of glutathione and GSS activity in erythrocytes, and genetic testing. Several episodes of febrile convulsions were started at age 11 months, but none occurred after 2 years. At the last follow-up at age 25 months, metabolic acidosis and hemolytic anemia were well controlled, but he had mild neurodevelopmental delay. CONCLUSIONS This case report shows that GSD can present with severe hemolytic anemia and metabolic acidosis at birth, and manifest with subsequent neurological impairment despite early diagnosis and treatment. Therefore, a careful long-term follow-up that includes neurological evaluation is essential for patients with GSD.