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Objective:To study the clinical and laboratory characteristics of neonatal isolated sulfite oxidase deficiency (ISOD).Methods:An infant with neonatal ISOD admitted to our hospital was retrospectively analyzed. Using key words "isolated sulfite oxidase deficiency", "SUOX gene", "Infant, newborn", databases including CNKI, Wanfang database, National library and literature center of science and technology, China science paper online, PubMed, Web of Science and EMBASE (up to January 2021) were searched and literature review was conducted. The clinical manifestations, laboratory results, treatment and prognosis were analyzed.Results:Our patient was a full-term male infant with eye movement disorder, refractory seizures, feeding difficulties, increased muscle tone, developmental retardation and microcephaly. Urine sulfite paper-strip test was positive. Uric acid was normal. Whole exon sequencing (WES) revealed SUOX c.475G>T and c.1201A>G compound heterozygous mutations. Cranial MRI showed multiple encephalomalacia and brain atrophy at 5-month of age. The infant died at 8-month. In the literature review, a total of 29 articles and 32 cases of neonatal ISOD were found. 87.5% of the cases developed symptoms within 1-week after birth. All had convulsive seizures. Some of them had feeding difficulties, muscle tone changes, developmental retardation, microcephaly and ectopia lentis. Cranial imaging showed white matter cystic lesions and brain atrophy. Laboratory examination showed elevated urinary sulfite and S-sulfocysteine. Uric acid and xanthine/hypoxanthine were normal. Blood homocysteine was decreased. 23 cases received genetic testing and all of them had SUOX mutations. The treatment was mainly symptomatic relief and supportive treatment. During follow-up, 15 cases died, 13 cases survived and 4 cases were unknown. All the surviving children had drug-resistant convulsions and developmental retardation.Conclusions:Neonatal ISOD may present with refractory convulsions, feeding difficulties and developmental retardation. Cystic white matter changes and brain atrophy may be seen on cranial imaging. Elevated urinary sulfites, decreased blood homocysteine and normal uric acid are important clues for diagnosis. Genetic testing is helpful for early diagnosis.
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Objective To explore the value of MSCT in diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH). Methods 24 patients with CTEPH and 8 patients with pulmonary hypertension by other causes were collected retrospectively.To analyzed the characteristics of CTPA images in patients with CTEPH,summarized the direct and indirect signs,and to compared with non-CTEPH.Statistical analysis was performed with SPSS1 7.0 software.Results According to the CTPA images,744 arteries of 24 patients with CTEPH were evaluated.The direct sign of CTEPH was mural thrombus firstly,accounted for 55.35% of the involved arteries,and then was followed by holo-obstruction,partial filling defect,central filling defect,irregular vessel wall thickening and eccentricity filling defect.There were narrowed lumens in 35.01%,dilated ones in 0.89% and no changes in 45.24%.The common indirect signs of CTEPH were pulmonary broadening (100%),enlargement of right heart (95.83%),mosaic attenuation,pericardial or pleural effusion,ground-glass opacity,infarction and atelectasis or consolidation in order.All patients had different degrees of pulmonary hypertension,and the most common findings of CTPA were widened pulmonary artery and enlarged right ventricle,and then were followed by enhancement of the inferior vena cava and hepatic vein,the expansion of bronchial artery and abnormal septal position.Conclusion CTPA can show the types and direct or indirect signs of CTEPH clearly.The morphological changes of the heart in CT are not enough to differentiate the CTEPH and non-CTEPH,and the severity of CTEPH is not alone decided by the degree of chronic pulmonary embolism.