Two cases of Cornelia de Lange syndrome type 2 for SMC1A gene mutations / 中华实用儿科临床杂志

The clinical features and gene mutation characteristics of 2 children who suffered from Cornelia de Lange syndrome(CdLs)and were admitted to Affiliated Hospital of Zunyi Medical University in March 2019 were retrospectively analyzed.The 2 cases developed in infancy and presented with intractable epilepsy were accompanied with developmental retardation and special appearance.It was obvious that the 2 children had SMC1A gene mutations on X chromosome.Case 1 was frameshift mutations in the SMC1A gene at c. 2561dupA(p.K854fs), and case 2 was mutations in the SMC1A gene at c. 3441+ 1G>A(exon24)splicing mutation.These were heterozygous de novo mutations, and weren′t detected in their parents, which was not reported in literatures.In this study, 2 cases of CdLs were caused by SMC1A gene mutation, which enriched the human gene mutation database.CdLs should be considered in children with early-onset epilepsy, especially appearance and developmental retardation.Genetic testing is the most important diagnostic method.

Two cases of tyrosine hydroxylase deficiency with different phenotypes / 中华实用儿科临床杂志

The clinical characteristics, diagnosis and treatment, and the gene mutation of 2 different phenotypes patients developed with tyrosine hydroxylase deficiency (THD) were retrospectively analyzed.Case 1 was a severe infantile parkinsonism accompanied with motor retardation, which started with psychomotor retardation without dystonia in infantile period.Clinical symptoms were fluctuating.Case 2 was a mild dopa-responsive dystonia, which started with progressive lower extremity dystonia in school age.The genetic study revealed that both patients had heterozygous mutations in tyrosine hydroxylase ( TH) gene.Case 1 was compound heterozygous mutations in the TH gene at c. 457C>T(paternal) and c. 698G>A (maternal). Case 2 was compound heterozygous mutations in the TH gene at c. 457C>T(paternal) and c. 1481C>T (maternal). Both patients dramatically improved after the treatment with Levodopa.THD should be considered in any children with or without mental retardation presenting with fluctuations symptoms or fluc-tuations dyskinesia.Genetic testing is the most important diagnostic method.

Clinical Observation of Fludarabine、 Intermediate-dose Ara-C and G-CSF in Treatment for Refractory or Relapsed Acute Myeloid Leukemia(26 Cases) / 中国基层医药

Objective To observe the therapeutic effects and side effects of FLAG regimen(fludarabine, Ara-C, and granulocyte-colony stimulating factor( C-CSF) for refractory or relapsed acute myeloid leukemia( AML). Methods Twenty-six AML were treated with fludarabine plus intermediate-dose Ara-C and G-CSF,of whom 15 cases belonged to refractory and 11 cases belonged to relapsed. Results After two courses of treatment, 14 cases were completely relieved (53. 8% ) and 5 cases were partially relieved (19.2% ). The overall effective rates was 73.1%. The main side effects were severe myelosuppression and non-hematological toxicity was mild. Conclusion FLAG regimen was very effective for refractory or relapsed acute myeloid leukemia and was well tolerated. The treatment-related mortality rate was low,so it provided a treatment choice for these patients.