Ketoacidotic crisis after vaccination in a girl with beta-ketothiolase deficiency: a case report

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) is a rare autosomal recessive disease caused by ACAT1 gene pathogenic variant involving isoleucine catabolism and ketone body metabolism disorder. The onset of ketoacidotic crisis commonly follows prior concurrent diseases or triggers including long-time fasting, infections, intake of high-level of lipids or proteins, etc. A girl aged 8 months presented with fever and cough on the day after vaccination of the second dose of Japanese encephalitis inactivated; on the second day after vaccination, she was admitted to the local hospital because of unconsciousness and dyspnea. After 1 day of treatment at the local hospital, she was referred to our hospital due to exacerbated conditions including unconsciousness and convulsion. When referring to our hospital, she had metabolic acidosis, hypokalemia, hypernatremia, hyperammonemia, and a Glasgow coma scale of 8 and Kussmaul breathing. Five percent NaHCO(3) (24 mL/kg), glucose and insulin (4–6 g glucose/1 U insulin) were continuously infused for correcting acidosis. L-carnitine (350 mg/kg/day) was given for ensuring the energy and increasing exudates of metabolites after admission. Protein was limited at 1.5 g/kg/day. Mechanical ventilation support and hemodialysis were used. The patient was still under unconsciousness after 2 weeks of intensive treatment in the Pediatric Intensive Care Unit (PICU). Due to her severe illness, the child’s parents ultimately decided to redirect their goals of care, and the child was discharged home where she died. For children with acute unexplainable metabolic acidosis, differential diagnosis of T2 deficiency should be considered. Rigorous indicative treatments including mechanical ventilation and hemodialysis should be given timely if ketoacidotic crisis occurred in patients with T2 deficiency.