Objective To screen for genome-wide copy number variations (CNVs) in Chinese children with unexplained mental retardation or developmental delay (MR/DD) using high resolution array-comparative genomic hybridization (Array-CGH), identify rare CNVs (microdeletions/ duplications) which may associate with MR/DD, and evaluate the effectiveness of Array-CGH in clinical molecular diagnosis of children with unexplained MR/DD. Methods Children with unexplained MR/DD were recruited for this study by using a high resolution oligo 244 K array for detection of genomic copy number variations. All identified CNVs were analyzed with the references from database of genomic variants (DGV)，database of DECIPHER, and UCSC brower（build 18）, as well as an internal Array-CGH database from the Genetics Diagnostic Lab of Children's Hospital Boston, plus a comprehensive literature review, to determine if the rare CNVs found in these children were associated with MR/DD. Results One hundred and eleven children with unexplained MR/DD were collected from July 2004 to July 2008. The average age was 6 years old and the ratio of male to female was 1.775. Among them, 36 rare CNVs were identified in 28 patients. The average size of CNVs was 1 326 kb (29-8 760 kb) which was undetectable by chromosome analysis. Nineteen patients carried CNVs that may be associated with MR/DD but 1 patient had a CNV with uncertain clinical significance. The diagnostic yield of Array-CGH for these MR/DD children is 17.1% (19/111). 22/36 CNVs (61.1%) found by this study was also reported at least in one of the database and/or literature reviews. A 2 098 kb deletion at 15q11.2-13.1 overlapping with PWS/AS critical region was found in a patient who had global developmental delay, feeding difficulty, tricuspid incompetence, hypotonia, cryptorchidism and foot deformity. His dysmorphism included flat face, sparse hair, hypertelorism, down-slanting eyes and small hands. The MRI showed prominent bilateral frontal and temporal lobe sulcus, enlarged lateral ventricles. Atypical PWS was diagnosed according to his clinic information and Array-CGH finding. The deletion included SNRPN，NECDIN，SnRNAs，UBE3A genes. Conclusions CNV associated with microdeletions/duplications found in Chinese patients was one of the causes for unexplained mental retardation and developmental delay. Array-CGH could detect disease associated rare CNVs effectively which should be applied to clinical molecular diagnostics as a useful evaluation to help differential diagnosis of children with unexplained MR/DD and other ambiguous medical conditions.
Objective Vanishing white matter disease, inherited with autosomal recessiveu manner, is supposed to be one of the most prevalent inherited leukoencephalopathy in childhood. It is the first known hereditary human disease due to the direct defects in translation initiation process, with the gene defects in EIF2B1-5, encoding the five subunits of eukaryotic translation initiation factor 2B (eIF2B α, β, γ, δ and ε) identified in 2001 to 2002. The pathogenesis of vanishing white matter disease is still far from well understood. Methods The analysis of clinical features and EIF2B1-5 mutation screening was performed in 12 Chinese children, who fulfilled the diagnostic criteria clinically proposed by van der Knaap. Genomic DNA was extracted from peripheral leukocytes. Mutation screening for EIF2B5 was carried out in each patient firstly, followed by screening for EIF2B4, EIF2B2, EIF2B3 and EIF2B1. For novel EIF2B5 mutations identified, in vitro functional study was carried out in transfected HEK 293 cells. Results These patients, consisting of 8 boys and 4 girls, came from 12 core families. All patients presented with classical phenotypes. All individuals were free of symptoms at birth and their developmental milestones were normal or mildly delayed. The symptoms began to appear from 1 year and 6 months to 6 years and 8 months of age, usually with subacute onset. The initial symptom was usually movement disturbance. The illness course was 9 months to 7 years until the last follow up. In all cases, the disease progressed, and with episodic aggravation in 7 cases. The brain MRI showed symmetric and diffuse abnormal signal in periventricular white matter in all cases, with a part having signal intensity close to cerebrospinal fluid on T1-weighted, T2-weighted and flair images. Sixteen mutations were identified in EIF2B5, EIF2B3 and EIF2B2, consisting of 9 novel mutations and 7 mutations reported previously. Nine novel mutations included 7 missense mutations (EIF2B5: c.185A>T, p.D62V; c.1004G>C, p.C335S; c.1126A>G, p.N376D; EIF2B3: c.140G>A, p.G47E; c.1037T>C, p.I346T; EIF2B2: c.254 T>A, p.V85E; c.922 G>A, p.V308M), 1 nonsense mutation (EIF2B5: c.805C>T, R269X), and 1 deletion mutation (EIF2B5: c.1827-1838del, p.S610-D613del). EIF2B3 mutation, accounting for 18.8% of total mutations found in this study, was more prevalent than previous reports in Caucasian population (7%). A hot spot mutation in EIF2B3 was identified. Further functional study on five novel EIF2B5 mutations revealed that p.R296X and p.S610-D613del mutations resulted in significant loss of the mutant protein. Conclusions Vanishing white matter disease patients with mutations were firstly reported in China. Our study identified 9 novel EIF2B mutations and revealed the unique mutation spectrum in Chinese patients. EIF2B5 mutations, p.R296X and p.S610-D613del, were probably the cause of loss of protein function. Further functional analysis of other mutations is ongoing.
Objectives—To investigate the effect of trophic feeding on clinical outcome in extremely low birth weight infants (VLBWI). Methods—A randomised, controlled, prospective study of 40 preterm infants, weighing less than 1500 g at birth and requiring ventilatory support and parenteral nutrition, was performed. Group TF (18 infants) received trophic feeding from day 3 (0.5–1 ml/h) along with parenteral nutrition until ventilatory support finished. Group C (22 infants) received parenteral nutrition alone. “Nutritive” milk feeding was then introduced to both groups. Clinical outcomes measured including total energy intake and growth over the first six postnatal weeks, sepsis incidence, liver function, milk tolerance, duration of respiratory support, duration of hospital stay and complication incidence. Results—Groups were well matched for birthweight, gestation and CRIB scores. Infants in group TF had significantly greater energy intake, mean difference 62.4kcal/kg (p=0.03); weight gain, mean difference 120g (p = 0.02); head circumference gain, mean difference 0.6 cm (p = 0.04); fewer episodes of culture confirmed sepsis, mean difference −8% (p=0.02); less parenteral nutrition, mean difference −9.5days (p= 0.03); tolerated full milk feeds (150 ml/kg/day) earlier, mean difference −12 days (p = 0.03); reduced requirement for supplemental oxygen, mean difference −21.5 days (p =0.02); and were discharged home earlier, mean difference −20.5 days (p = 0.03). There was no significant difference in the relative risk of trophic feeding. Conclusions—Trophic feeding improves clinical outcomes in very low birth weight preterm infants requiring parenteral nutrition.
Objective To assess the efficacy and safety of recombinant human erythropoietin (rhEPO) for improving neurodevelopment outcomes in preterm infants. Methods According to the requirements of Cochrane systematic review,a literature search was performed among PubMed,EMBASE, Cochrane library, CNKI, Wanfang data, VIP and CBM from the establishment of the database till 31 December 2009. Quality assessments of clinical trials were carried out. Randomized controlled trials(RCTs) or quasi-RCTs with rhEPO in preterm infants were enrolled and RevMan 5.0 software was used for meta-analysis. Data extraction, quality assessment, and meta-analysis for the results of homogeneous studies were done by two reviewers. The trials were analyzed using weighted mean difference (WMD) for continuous data and relative risk (RR) for dichotomous data, both kinds of data were expressed by 95％CI.For homogenous data(P≥0.10), fixed effect model was calculated. Results One hundred and eighteen literatures were reviewed. The studies including reviews（n=22）,non-RCTs (n=35）,foundational researches（n=40）, anaemia studies（n=6）, full-term infants RCTs（n=2）, documents not meeting the major results of the meta analysis（n=8） were excluded. Two RCTs and 3 quasi-RCTs including 233 preterm infants（119 of treatment group and 114 of control group）were included in the analysis. The results of quality assessment were that 1 study was A, 1 was B, and 3 were C. There was evidence of a significant effect of therapeutic rhEPO on the outcomes of MDI scores (WMD=7.73，95%CI：3.45-12.01，P=0.000 4) , PDI scores (WMD=3.81，95%CI：0.59-7.02，P=0.02) at 18 to 22 months and NBNA scores (WMD=1.95，95%CI：1.56-2.35，P＜0.000 01) at 40 weeks of corrected gestational age. However, rhEPO had no effect on MDI<70（OR= 0.70，95%CI:0.31-1.61），PDI<70（OR=2.46，95%CI:0.94-6.45），cerebral palsy（OR=1.08，95%CI:0.39-2.99）, blindness（OR=0.34，95%CI:0.01-8.56） and hearing loss（OR=1.04，95%CI:0.06-17.15）. There were no differences between groups with respect to the percentage of preterm infants with severe ROP of stage Ⅲ or above（OR=1.30，95%CI：0.50-3.43），severe IVH of stage Ⅲ or above（OR=2.91，95%CI:0.64-13.23），NEC （OR=0.57，95%CI:0.13-2.54） and BPD（OR=1.06，95%CI:0.50-2.26）. Conclusions The rhEPO treatment had beneficial effect on the neurodevelopment outcomes but did not produce severe ROP to preterm infants.
Objective To explore the morphologic features of the airway mucosal lesions in children with persisting and non-persisting mycoplasma pneumoniae pneumonia. Methods This study retrospectively reviewed the records of the children with mycoplasma pneumoniae pneumonia who had admitted to Beijing Children′s Hospital and received bronchoscopy from June 2006 to December 2007. According to the process of the disease, they were divided into two groups which were the persisting mycoplasma pneumoniae pneumonia group (the process≥1 month) and the non-persisting mycoplasma pneumoniae pneumonia group (the process<1 month). The data of the two groups such as clinical manifestations, roentgenographic findings, airway mucosal lesions seen through the bronchoscope, and the condition of the treatment and prognosis were analyzed. Results There were 144 children with mycoplasma pneumoniae pneumonia(61 boys and 83 girls) aged from 2 to 15 years with a median of 7.5 years included in the groups. The persisting mycoplasma pneumoniae pneumonia group included 36 cases, and non-persisting mycoplasma pneumoniae pneumonia group included 108 cases. The radiologic findings of all patients in this study presented lobar or sublobar consolidation bilaterally or unilaterally. Twenty-five of 36 cases ( 69%) in the persisting mycoplasma pneumoniae pneumonia group and 48/108 cases (44%) in the non-persisting mycoplasma pneumoniae pneumonia group were with segmental or lobar atelectasis.14/36 cases (39%) in the persisting mycoplasma pneumoniae pneumonia group and 24/108 cases (22%) in the non-persisting mycoplasma pneumoniae pneumonia group were with small or large pleural effusion. Under flexible bronchoscope, the most common mucosal lesions in both groups were bronchial mucosal follicle-like hyperplasia, roughness, hyperemia, edema, microtubule reductus, and increasing mucus secretion，but the degrees and ranges of these lesions in the two groups were different. Bronchial mucosal follicle-like hyperplasia and the increasing mucus secretion were more common in the persisting mycoplasma pneumoniae pneumonia group than in the non-persisting mycoplasma pneumoniae pneumonia group（36/36 cases vs 91/108 cases, 35/36 cases vs 89/108 cases, P<0.05). Meanwhile the lesions such as airway inflammatory stenosis, mucus plug blocking and segmental bronchi dysventilation were the more common changes in the persisting mycoplasma pneumoniae pneumonia group than those in the non-persisting mycoplasma pneumoniae pneumonia group（11/36 cases vs 10/108 cases, 18/36 cases vs 22/108 cases, 24/36 cases vs 44/108 cases, P＜0.05). However, the lesions such as mucosal erosions（3/36 cases）, granulation proliferation（1/36 cases）, plastic bronchitis（4/36 cases） and bronchial obliteration (4/36 cases）were existed only in the persisting mycoplasma pneumoniae pneumonia group. Conclusions The characteristic bronchoscopic findings of the airway mucosal lesions in children with mycoplasma pneumoniae pneumonia were bronchial mucosal follicle-like hyperplasia and increasing mucus secretion. These two lesions meant the airway inflammation was active, and the infection of mycoplasma pneumoniae was out of control. The lesions like mucosal erosions, granulation proliferation, plastic bronchitis or bronchial obliteration indicated the process of mycoplasma pneumoniae pneumonia may be delayed.
Objective To compare the predictive value of abnormal EEG background within 6 h after birth by different criteria in the prognosis of neurodevelopment of patients with neonatal asphyxia. Methods According to the recent neonatal EEG criteria of Liu published in Clinical EEG 2008 (criteria A) and Murray's criteria (criteria B, published in Pediatrics 2006), we analyzed the VEEG including the EEG background and seizure discharges in the newborns with severe asphyxia. In order to follow up the neurodevelopment outcomes, we used NBNA during 7-14 d after birth, GMs and DST at 3 months of age, BSID at 6 months of age. VEEG were recorded at 6 h, 3 d, 7d after birth. And we followed up the patient's EEG at 3 months and 6 months of age. Results 48 severe asphyxia newborns were collected in this study (26 males and 22 females). The VEEG were normal in 9 cases and in 39 were abnormal, in which there were 11 cases with abnormal EEG background and 28 cases with abnormal EEG background and paradoxical discharges. According to criteria A, there were 24 cases with mild abnormal EEG, 8 moderate and 7 severe abnormal EEG. According to criteria B, there were 16 cases with mild abnormal EEG, 11 moderate, 5 severe abnormal EEG and 7 inactive EEG. By following-up EEG, there were 27 of 43 cases with abnormal EEG at 3 d, 8 of 40 cases with abnormal EEG at 7 d, 10 of 35 cases with abnormal EEG at 3 months and 7 of 10 cases with abnormal EEG at 6 months. In 48 patients, there were 9 cases died, 20 of 39 cases with abnormal NBNA scores during 7-14 d, 1 of 35 cases with abnormal GMs at 3 months, 3 of 35 cases with abnormal DST scores at 3 months. There were 4 cases with abnormal BSID scores at 6 months and diagnosed as psychomotor retardation or cerebral palsy. We found no significant difference in the predictive value of mild and severe EEG background between criteria A and B. There were more cases with moderate abnormal EEG having poor neurodevelopment according to criteria A than that according to criteria B (5/8 cases vs 3/11 cases). Conclusions Both criteria A and B have the predictive value in the prognosis of neurodevelopment in the patients with neonatal asphyxia. There were some differences in the moderated abnormal EEG background determined by criteria A and B. Criteria A seemed to be more sensitive than criteria B in the evaluation of neonatal abnormal EEG background and the prediction of the neurodevelopment outcomes.
Objective Adequate nutrition during infancy is fundamental to the development of each child′s full human potential. It is well recognized that the period from birth to one year of age is a ′critical window′ for the promotion of optimal growth, health and behavioral development. Many infant feeding recommendations were issued by WHO in the past decade. The current study aims at investigating feeding practices following the latest infant feeding recommendation issued by WHO in 2002. Methods A cross-section investigation was conducted in the department of primary child care, Children′s Hospital of Chongqing Medical University, which was located in southwest of China, from June 2008 to May 2009.Total 978 healthy infants who were recieving regular physical examination in the hospital were recruited unrandomly, including 529/976（54.2%） boys and 447/976 (45.8%) girls, aged 2 months(n=7), 3 months(n=45), 4 months(n=124), 5 months(n=233), 6 months(n=283), 7 months(n=107), 8 months(n=86), 9 months(n=45), 10 months(n=30), 11months(n=10),12 months(n=8), respectively. A questionnaire was used to collect information of infants′ data and feeding practice which was assessed by 24-hours recall from their major dependents. The anthropometric data of infants including weight and length were measured by qualified nurses using standard instruments and following standard protocol. Weight-for-length Z-score(WLZ), weight-for-age Z-score(WAZ) and length-for-age Z-score(LAZ) were calculated with Anthro software (version 3, April 2009). Means of weight, length, WLZ, WAZ and LAZ at different ages were compared with WHO growth standards using t tests. Results There was a considerable variety of feeding practices compared with the latest infant feeding recommendation issued by WHO. About 89.8% infants were breastfed, of whom 41.5% of whom were exclusively breastfed after delivery, however, 10.2% of the infants had never been breastfed. The proportion of breastfed infants was 25/45(55.6%) at 3 months, 53/124(42.7%) at 4 months, 114/233(48.9%) at 5 months and 100/283（35.3%）at 6 months, respectively. The proportion of exclusively breastfed infants was 15/45(33.3%) at 3 months, 27/124(21.8%) at 4 months, 23/233(11.2%) at 5 months, respectively. By the age of 6 months, the rate of exclusive breastfeeding was dramatically decreased to 15/283(5.3%). It did not meet the standard of exclusive breastfeeding for 6 months(180 days) recommended by WHO. The time of introducing complementary food varied, with 8.8% of infants being introduced complementary foods before 4 months, and the percentage increased to 66.0% during 4-5 months, 12.3% after 6 months, respectively. First food introduced to infancy was infant rice powder(65.5%), yolk(17.2%), vegetable or fruit(9.3%), homemade rice(7.4%) or fish(0.6%), respectively. The median age of introducing infant rice powder, gruels, yolk, vegetable, fruit, meat, fish, rice, noodle and bean was 4.5, 5.7, 5.2, 5.1, 5.1, 6.7, 6.8, 7.9, 6.6 and 7.0 months. Physical growth of the group of infants was above the WHO reference regardless of the time of complementary feeding during 2-12 months of age. Both infants′ weights reached up to the average level of WHO growth curve 2005 (P>0.05), whether or not exclusive breastfeeding was taken during 4-6 months. Mean and standard deviation of WLZ was 0.7±1.1, 0.7± 0.9, 0.6±0.9, 0.6±0.9, 0.7±1.0, 0.6±0.9, 0.6±0.8, 0.4±0.8, 0.6±1.0, 1.0±0.6 that differred significantly from zero (P<0.05) during 3-11 months, respectively. There was no difference found in WLZ, WAZ, and LAZ among the different feeding practice groups at 4th-6th month. Conclusions The current study indicated a unsatisfactory compliancy to WHO recommendation in infant feeding. Compared with WHO recommendation, the study sample showed lower pure breastfeeding rate,but higher proportion of formular feeding in the first 6 months.However, there was few significant difference in growth status associated with early infant feeding practice during the first year in our study.
Objective To evaluate the relationship between platelet-activating factor(PAF)/platelet-activating factor-acetylhydrolase(PAF-AH) and neonatal infection and to observe the trends of plasma PAF level and PAF-AH activities during the course of infection by measuring plasma PAF levels and PAF-AH activities in neonates with infection. Methods Neonates admitted to the neonatal ward of Children′s Hospital of Fudan University from July to December in 2008 were enrolled. According to the locations and severity of infection, the patients were divided into 3 groups, general infection group, local infection group and non-infection group. Plasma samples of infection groups were taken within 48 h after infection, others were taken during hospitalization period. Besides, plasma samples were taken on the first, third, fifth and seventh day of infection from the neonates who had severe infection with organ dysfunction to observe the trends of plasma PAF levels and PAF-AH activities during the course of infection. The plasma PAF levels were measured by ELISA, and PAF-AH activities were measured using PAF Acetylhydrolase Assay Kit from Cayman Chemical Company.The plasma PAF levels（μg·L -1） and PAF-AH activities（μmol·L-1·min-1） were compared in different groups and the changes of the plasma PAF levels and PAF-AH activities in severe general infection neonates were compared. Results Total 247(146 boys and 101 girls) neonates were enrolled in the study. Average age, gestational age and birth weight were 9.2（1~57）d, 35.85（27~43）weeks and 2 517（906~4 750）g, respectively. General infection group, local infection group and non-infection group included 91,63 and 93 neonates, respectively. ①Multiple linear regression analysis showed that the plasma PAF levels had relation with severity of infection（P=0.000），no relation with sex,gestional age,birth weight and age；The plasma PAF-AH activities had relation with severity of infection and age（both P=0.000）,but had no relation with sex,gestational age and birth weight.The plasma PAF-AH activities were lower in early stage neonates than that in late stage neonates.②Mean plasma PAF levels were significantly higher in infants with general infection (9.5±8.1) than those in infants with non-infection group (5.3±3.2)and local infection group (4.6±3.5)(P=0.000). In early stage or late stage neonates, plasma PAF-AH activities of general infection group (5. 7±2.7, 7.0±2.5) were significantly lower than those of non-infection group (7.3±2.9, 9.7±2.2, respectively) and local infection group (7.3±2.5, 9.7±2.7, respectively).③The plasma PAF levels of 9/12 alive children with multiple organ dysfunction in the course of 1-7 d decreased and plasma PAF-AH activities increased.It was opposite in 3/12 deaths.④Infants with sepsis caused by Gram negative bacteria had higher plasma PAF levels and lower PAF-AH activities than those with sepsis caused by Gram positive bacteria (P=0.005). Conclusions Plasma PAF levels were positively correlated and PAF-AH activities were negatively correlated with the severity of infection. Plasma PAF levels and PAF-AH activities showed variations during the course of infection. The trends of variations may be correlated with the prognosis.
Objective To explore the typical clinical features and assistant examination indexes of intensive care children with hand, foot and mouth disease (HFMD), enrich Guide for the Diagnosis and Treatment of Hand, Foot and Mouth Disease established by Ministry of Health of the People′s Republic of China in 2008, and provide the reference for the clinical diagnosis and treatment of HFMD. Methods The sick children with HFMD of neurological involvement treated in Guangzhou Women and Children's Medical Center from May to December in 2008, were recruited and divided into the severe illness and the intensive care groups according to their status. The information on fever, rash and clinical manifestations of nervous, respiratory and circulatory systems, and the laboratory examination data were summarized and analyzed. The difference was analyzed on the clinical manifestation and the laboratory examination between the two groups. Then the high risk factors of critical illness were analyzed by logistic regression analysis. Results One hundred and forty-two recruited cased with HFMD of neurological involvement included 88 males and 54 females, 110 younger than 3 years old cases (77.5%), 67 in the intensive care group and 75 in the severe ill group. ① 82 cases were with high fever (57.7％), and the fever duration was (5.68±3.19) d, 88 cases presented typical rash （62.0％）. ② The major neurological features included limb tremor (75.4%, 107/142), fatigue (65.5%,93/142), restlessness (60.6%, 86/142), irritation (54.9%, 78/142), vomiting (51.4%, 73/142) and double knee reflex hyperactivity (55.6%,79/142). ③ The clinical manifestations of circulatory and respiratory systems included tachycardia (24.6%, 35/142), hypertension (14.8%, 21/142), capillary refill time being more than 5 seconds (13.4%, 19/142), tachypnea (21.8%, 31/142), respiratory rhythm abnormality (20.4%, 29/142), pneumorrhagia(6.3%, 9/142). ④ Among all 142 cases, there were 55 cases (38.7%) with a peripheral blood WBC count of more than 12×109·L-1, 90 cases (63.4%) with blood glucose level of more than 6 mmol·L-1 , and 36 cases (25.4%) whose chest X-ray showed lung exudative lesion. ⑤ Between the intensive care group and the severe illness group, there was significant difference in cervical rigidity, hypermyotonia or hypomyotonia, convulsion, limb weakness, eye movement abnormality, tachycardia, high blood pressure, capillary refill time being more than 3 or 5 seconds, tachypnea, respiratory rhythm abnormality and lung exudative lesion. ⑥ Multivariate logistic regression analysis showed that tachycardia (OR=17.918, 95%CI: 4.634-69.284), capillary refill time being more than 5 seconds (OR=8.985, 95%CI: 1.568-51.488), cervical rigidity (OR=8.467, 95%CI: 1.964-36.513), and lung exudative lesion (OR=7.692, 95%CI:2.345-25.235) were the high risk factors of intensive care children with HFMD of neurological involvement. ⑦ Except for the conventional treatments, 43 cases in the intensive care group were treated with respirator by the tracheal intubation. 136/142 cases well recovered and had no sequelae affirmed by the follow-up survey after 0.5-1 year, and 6 cases died. Conclusions The early symptoms and signs of neurological complications caused by HFMD include limb tremor, fatigue, restlessness, irritation, vomiting and double knee reflex hyperactivity. The high risk factors of critical illness associated with HFMD are tachycardia, capillary refill time being more than 5 seconds, cervical rigidity and lung exudative lesion.
Objective By learning the clinical features of child nasal NK/T cell lymphoma to enhance the ability of early diagnosis and treatment. Methods One case of child with nasal NK/T cell lymphoma wAS reported in the clinical features, histopathological features based on disease history, physical examination, sinus CT and MRI, bone marrow cytology, immunology and histopathological examinations of a new nasal tissue, skin and subcutaneous tissue, cecum mucosa and muscle. Then the case was followed up and the literatures were reviewed. Results The case was a 15 years old boy . He came to hospital because of fever,rash and blocked nose for 1 month.The child sufferred from nasal cavity tumors with skin involvement, as well as digestive system and joint metastasis. CT and MRI tests of the nasal cavity showed a space-occupying lesion.The pathology of left lower extremity skin nodules, bowel and left anterior tubercle puncture indicated that profiled lymphocyte infiltration could be seen surrounding small blood vessels of dermis and skin appendage. Immunohistochemistry showed tumor cells expressed T cell marker CD45RO, CD3 and NK-cell-specific antibody CD56. Cytotoxic molecule was positive, such as perforin, TIA-1, Granzyme B and so on.It was proved to be nasal NK/T cell lymphoma by clinical manifestations, microscopic morphology and immunohistochemical characteristics. As his parents gave up the treatment after the diagnosis,the child died in 2 months after discharge. Conclusions Child nasal NK/T cell lymphoma was a rare and special type of primary extranodal non-Hodgkin′s lymphoma. The disease mainly affected the nasal cavity and the facial midline or presented as multi-system involvement. The disease is highly aggressive with rapid progress. It was easily resistant to chemotherapeutic drug and had poor prognosis in advanced cases.Early clinical manifestations were atypical and it was often misdiagnosed as inflammation, Wegner granulomatosis, other types of lymphoma and Behcet′s disease.
