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

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World Journal of Clinical Cases 2021年第30期9卷 9276-9284页

作者： Jun Guo Dan Ren Zhong-Jie Guo Jing Yu Fu Liu Rong-Xiang Zhao Yu Wang Department of Paediatrics Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina Department of Medical Image Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina Department of Pharmacy Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina

BACKGROUNDβ-ketothiolase deficiency(β-KTD)is an inherited disease,and insufficient attention has been paid to imageology due to its lower ***,few lesions outside the basal ganglia have been found before,and the persistent pathological changes have rarely been *** 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 *** was initially diagnosed with severe brain injury,central respiratory failure,metabolic acidosis complicated with respiratory alkalosis,hyper-IgE,*** further examination,a definite diagnosis ofβ-KTD was *** treatment was *** 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 ***,the patient’s disease improved and discharged approximately 1 mo later,and the abnormal lesions on MRI had partially ***,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 *** 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 someβ-KTD *** addition to biochemical tests,genetic tests and magnetic resonance imaging are not only conducive to quickly diagnosingβ-KTD but also to partially evaluating the short-and long-term ***,more attention should be paid to the two mutations(c.478 C>G;c.951 C>T)that may be associated with severeβ-KTD.

关键词： Life-threatening symptoms severeβ-ketothiolase deficiency Lesions outside of the basal ganglia Irreversible damage to the basal ganglia Magnetic resonance imaging New mutation Case report

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