Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report

BACKGROUND beta-ketothiolase deficiency (beta-KTD) is an inherited disease, and insufficient attention has been paid to imageology due to its lower morbidity. Therefore, few lesions outside the basal ganglia have been found before, and the persistent pathological changes have rarely been reported. CASE SUMMARY A 10-mo-old Chinese female patient with a free previous medical history but with poor physical and athletic development had received the haemophilus influenzae vaccine and then developed a low fever 2 d prior. She was initially diagnosed with severe brain injury, central respiratory failure, metabolic acidosis complicated with respiratory alkalosis, hyper-IgE, etc. With further examination, a definite diagnosis of beta-KTD was made. Symptomatic treatment was adopted. Ten days later, the dyspnea was improved evidently and the ventilator was removed, but there were still obvious abnormalities on magnetic resonance imaging (MRI). The lesions mainly invaded the corpus striatum but were not limited to the basal ganglia. Then, the patient's disease improved and discharged approximately 1 mo later, and the abnormal lesions on MRI had partially improved. However, for about 1 year, the residual irreversible lesions were observed on MRI, the mental and physical development of the patient was obviously regressive, and extra rehabilitation training was needed. CONCLUSION The case highlights the critical importance of one view that the range of lesions in some patients may be more extensive than previously thought in some beta-KTD patients. In addition to biochemical tests, genetic tests and magnetic resonance malting are not only conducive to quickly diagnosing beta-KID but also to partially evaluating the short- and long-term outcomes. Moreover, more attention should be paid to the two mutations (c.478C>G; c.951C>T) that may be associated with severe beta-KTD.