生后脐血检查发现先天性淋巴细胞白血病一例

患儿,男,18 h,因生后脐血检查发现白细胞增高10 h入院.患儿系孕2产2,胎龄38周,因其母"瘢痕子宫"外院剖宫产娩出,生后哭声响亮,Apgar评分1 min 9分,5 min 10分,无脐带绕颈,胎盘、羊水无异常;家长要求储存脐血故行脐血常规检查,结果示"WBC 242×109/L,L 147.9×109/L,RBC 3.3×1012/L,Hb 129 g/L,PLT 171×109/L",考虑先天性白血病,转我院.父母健康,非近亲结婚,有1兄5岁,体健;其母27岁,个体经商,否认孕期放射线及药物、毒物接触史,家族中无遗传病史及恶性肿瘤病史;家庭居住环境无特殊.     

Congenital Candida glabrata infection without specific nodules on the placenta and umbilical cord

Two extremely premature infants died as a result of congenital Candida glabrata infection, and their placentas and umbilical cords were free of macroscopic Candida nodules. Because non-Candida albicans Candida infections are less likely to produce necrotic foci, we should not exclude Candida infections in the absence of macroscopic nodules on the placenta and umbilical cord.     

Congenital airway abnormalities in neonates

Airway malformations such as laryngeal atresia, tracheal agenesis and subglottic stenosis are rare and present at birth with significant respiratory distress with or without stridor. There may be an initial improvement on bag and mask ventilation. Repeated attempts at intubation are met with failure. The related embryology and clinical aspect of airway malformations have been discussed. The prognosis in tracheal agenesis is universally fatal but cases with laryngeal atresia and subglottic stenosis may be saved with prompt tracheostomy and later surgical reconstruction.     

Congenital airway abnormalities in neonates

Airway malformations such as laryngeal atresia, tracheal agenesis and subglottic stenosis are rare and present at birth with significant respiratory distress with or without stridor. There may be an initial improvement on bag and mask ventilation. Repeated attempts at intubation are met with failure. The related embryology and clinical aspect of airway malformations have been discussed. The prognosis in tracheal agenesis is universally fatal but cases with laryngeal atresia and subglottic stenosis may be saved with prompt tracheostomy and later surgical reconstruction.     

Congenital coronary artery abnormalities

Congenital coronary artery abnormalities are rare and account for approximately 0.1 to 2% of congenital heart defects. They may pose significant risk of mortality or morbidity to the patient. The pediatrician and the pediatric cardiologist should be aware of their subtle but very serious presentations and diagnostic steps to be undertaken to pinpoint the diagnosis. Prevention of serious complications from these abnormalities can be achieved by making the appropriate diagnosis and performing timely surgical intervention. This review will discuss the most common congenital coronary artery abnormalities and their management.     

Congenital cytomegalovirus infection diagnosed by polymerase chain reaction with the use of preserved umbilical cord

We report a patient with congenital cytomegalovirus infection diagnosed retrospectively by real time polymerase chain reaction with the use of a preserved umbilical cord. The patient had mild developmental delay without apparent hearing loss at the diagnosis. Congenital cytomegalovirus infection was suspected on the basis of magnetic resonance imaging that showed abnormal signal intensities in the gray-white matter junction.     

The giant umbilical cord

The giant umbilical cord is a rare malformation of the umbilical cord that can easily be diagnosed on prenatal scans and is unmistakable postnatally. We report a case to highlight issues of this rare finding. Visual diagnosis is easy and surgical repair is usually required.     

Giant umbilical cord associated with cord hemangioma

A 6-h-old girl was transferred to the Pediatric Surgery Department of Sisli Children's Hospital due to a giant umbilical cord. Radiologic and laboratory studies were within normal limits. The umbilical mass excised through an intraumbilical incision and the umbilicus reconstructed. Pathologic investigation demostrated an umbilical cord hemangioma located near the umbilical end, compressing the cord structures externally. The remaining cord consisted of loose, edematous stroma similar to Wharton's jelly. The patient was discharged from the hospital on the 5th postoperative day and remains healthy 1 year later. Umbilical cord hemangioma should be considered in the etiology of a giant umbilical cord.     

Uroguanylin level in umbilical cord blood

BACKGROUND: Uroguanylin is a novel natriuretic and diuretic peptide originally isolated from urine. METHODS: To determine whether uroguanylin has a physiologic role during the perinatal period, uroguanylin levels in umbilical cord plasma obtained at the time of delivery were measured by radioimmunoassay and compared with cord serum osmolality. RESULTS: Mean (+/- SD) cord plasma uroguanylin concentrations (8.8 +/- 2.1 fmol/mL) were higher compared with normal adult values. The extent of maturity, mode of delivery and gender did not appear to influence cord uroguanylin levels. The uroguanylin concentration had a significant positive correlation with cord serum osmolality. Conclusion: These findings support some regulatory role of this peptide in perinatal renal and cardiovascular adaptation.     

Congenital and inherited ophthalmologic abnormalities

Objective : To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities.Methods : Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded.Result : Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroregression. Environmental (12.22%) and chromosomal anomalies (10.9%) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41%) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest).Conclusion : Upto 50% of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.     

Congenital abnormalities of the limbs in still-births

Summary Twelve still-born fetuses with limb anomalies are reported. The anomalies were associated with general systemic malformations. It is probable that death was in most cases due to the latter, the former being only incidentally present. The limb defects were infrequent. The upper limbs were affected much less often. The distal portions were more commonly involved. Anencephaly, spina bifida and urogenital malformations are common associations with limb anomalies. No history of antenatal medication was found in these cases. From the Department of Anatomy, Medical College, Aurangabad.     

Hemangioma of the umbilical cord

Tumors of the umbilical cord are extremely rare. Only two types are recognized: hemangioma and teratoma. A case of hemangioma of the cord prompted a review of the world literature that uncovered 17 other cases, bringing the total number of known cases up to 18. Our case is the first to be diagnosed by ultrasonography and was associated with polyhydramnios.