RESUMO
OBJECTIVE@#To carry out genetic and metabolite analysis for an infant with cerebral creatine deficiency syndrome type 2 (CCDS2).@*METHODS@#Clinical data of the child was collected. Whole-exome sequencing was carried out to identify potential variants by next generation sequencing. Candidate variants were confirmed by Sanger sequencing. Metabolites were determined by tandem mass spectrometry and magnetic resonance spectroscopy. Treatment was carried out following the diagnosis and genetic counseling for the affected family.@*RESULTS@#Two novel heterozygous variants (c.289delC and c.392-1G>C) of the GAMT gene were identified in the proband, which were respectively inherited from her father and mother. In silico analysis suggested both variants to be pathogenic. Creatine (Cr) level of the child was very low, and cerebral guanidinoacetate (GAA) level was slightly increased. But both had recovered to normal in two weeks, and cerebral Cr level was significantly improved after two months. Intellectual and motor development of the child were significantly improved.@*CONCLUSION@#The child was diagnosed with CCDS type 2, for which pathogenic variants of the GAMT gene may be accountable. Treatment has attained a satisfactory effect for the patient.
RESUMO
Objective To evaluate the surgical strategy for pulmonary valve preservation in repair of tetralogy of Fallot (TOF) and analyze the outcomes in young children patients.Methods A total of 211 TOF younger children less than threeyear-old between January 2009 and December 2015 had received pulmonary valve-sparing(PVS) surgical repair.At the end of the procedure,the peak RV/LV pressure ratio(PRV/PLV) and transannular pressure gradient were performed in all patients.114 patients had higher PRV/PLV rati ≥ 0.8.The former 54 patients,right ventricle infundubulum sparing (RVIS) stragery were made to relieve the RVOTO.However,only 8 patinets of the later 60 cases had received RVIS in TOF repair,whose systemic blood pressure was instable with the large dose of dopamine≥10 μg · kg-1 · min-1 and epinephrine≥0.05 μg · kg-1 · min-1 or the transannular pressure gradient≥30 mmHg (1 mmHg =0.133 kPa).114 patients were divided by two group(52 cases in PVS group and 62 cases in RVIS group) and compared by the early outcomes.Results The median cardiopulmonary bypass time of RVIS group was significantly more than that of PVS group[(110.3 ± 12.0)min vs(77.7 ± 10.0)min].The postoperative index of the patients in PVS group,including transannular pressure gradient [(21.0 ± 5.4) mmHg vs (16.0 ± 3.6) mmHg,P ＜ 0.05],PRV/PLV ratio(0.82 ± 0.03 vs.0.67 ± 0.12,P ＜ 0.01),median using time of dopamine and epinephrine[(6.03 ±9.60)days vs.(4.20 ±1.90)days,P＜0.01],median extubation time[(81.2 ±27.6)h vs.(38.5 ±33.0) h,P ＜ 0.01],ICU stay time [(6.3 ± 1.7) days vs.(4.3 ± 1.9) days,P ＜ 0.01],using of peritoneal dialysis (8/52 vs 4/62,P ＜ 0.01)were more than those in RVIS group.There was no difference of mortality between two groups.Fellow up 12-50 months,there was no difference of LVEF,MPI and TAPSE between two groups.However,the severity of pulmonary regurgitation in patients of PVS group was significant less than those of RVIS group.Conclusion PVS and RVIS in TOF repair could decrease the severity of pulmonary regurgitation after operation.