Journal of Clinical Pediatrics

Intestinal microecology and infant immunity

LI Zailing, ZHANG Ting, CHE Tongxing, et al

Journal of Clinical Pediatrics. 2020, 38(11): 801. doi:10.3969/j.issn.1000-3606.2020.11.001

Abstract ( 573 )

PDF (1127KB) ( 539 )

Related Articles | Metrics

Effect of vagus nerve stimulation on epileptic encepha-lopathy in children

ZHANG Tong, TANG Jihong, LI Yan, et al

Journal of Clinical Pediatrics. 2020, 38(11): 810. doi:10.3969/j.issn.1000-3606.2020.11.002

Abstract ( 316 )

PDF (1205KB) ( 384 )

Related Articles | Metrics

Objective To investigate the effect of vagus nerve stimulation (VNS) on cognitive function in children with epileptic encephalopathy. Method Fifteen children from October 2016 to August 2018 with epileptic encephalopathy were selected according to inclusion criteria and exclusion criteria. Clinical data of 15 children were collected and followed up for 1-2 years. VNS was followed up for the first time 2 weeks after startup, for the second time 3 months after startup, and once every 3 months thereafter for a total of 1 - 2 years. The follow-up included epileptic seizure and cognitive improvement after VNS treatment. The improvement of cognitive ability before and after treatment was compared and analyzed. Results A total of 15 patients were enrolled in this study, including 7 males and 8 females with an average age of ( 7 . 3 ± 1 . 76 ) years. There were 8 cases of Lennox-Gastaut syndrome, 4 cases of Dravet syndrome and 3 cases of Doose syndrome. The duration of epilepsy was 1 - 9 years, with an average of ( 5. 46 ± 2. 19 ) years. After 12 months’ follow-up, the patient's language ability, attention, cognitive ability after treatment were improved significantly (P < 0 . 05 ); in contrast, exercise capacity improvement is not obvious (P > 0 . 05 ). For 12 months after VNS therapy, seizures loss was >50% in ten cases and ≤ 50% in five cases. Language ability, athletic ability, attention, and improvement of their cognitive abilities, showed no difference in these two groups (P > 0.05). Conclusion VNS can improve the language ability, attention ability and cognitive ability of children with epileptic encephalopathy.

A case of early-onset epileptic encephalopathy caused by CDKL5 gene mutation

ZHONG Yi, SHU Xiaomei

Journal of Clinical Pediatrics. 2020, 38(11): 814. doi:10.3969/j.issn.1000-3606.2020.11.003

Abstract ( 959 )

PDF (1309KB) ( 186 )

Related Articles | Metrics

Objective To investigate the clinical and genetic characteristics of CDKL5 gene mutation-associated with early-onset epileptic encephalopathy. Methods The clinical characteristics and genetic variation of CDKL 5 gene mutation in a baby boy with early-onset epileptic encephalopathy were analyzed. Results On the 30th day after birth, the children began to have a variety of forms of seizures, such as tonia, spasm, myoclonus, and accompanied by a significant waking athetosis. The child was treated with a combination of antiepileptic drugs with poor efficacy, which resulted in refractory spasmodic seizures, severe developmental delay and language and motor delay. Gene examination revealed a de novo c. 416 A>G (p.Glu 139 Gly) missense mutation in CDKL 5 gene, which has not been reported. Conclusion In this paper, the mutation spectrum of CDKL 5 was expanded (c.416 A>G), which could lead to severe early-onset epileptic encephalopathy in male children.

Clinical characteristics and mutation analysis of ATP1A3 gene associated paroxysmal diseases

SUN Yulin, YANG Guang, WAN Lin, et al

Journal of Clinical Pediatrics. 2020, 38(11): 817. doi:10.3969/j.issn.1000-3606.2020.11.004

Abstract ( 1067 )

PDF (1201KB) ( 294 )

Related Articles | Metrics

Objective To summarize the clinical characteristics of ATP 1 A 3 gene associated paroxysmal diseases, and to explore clinical phenotype and genotype relationship. Methods Clinical data and genetic test results of four children with ATP 1 A 3 gene associated paroxysmal diseases recruited from September, 2018 to December, 2019 were retrospectively analyzed. Results Four male patients were recruited. The median age of onset was 5 months (ranged from 20 days to 9 months) . Clinical phenotypes of the four children were alternating hemiplegia of children (AHC), AHC with epilepsy, epilepsy, and CAPOS (cerebellar ataxia, areflexia, pes cavus, opticatrophy, and sensorineural hearing loss) syndrome respectively. The initial symptoms and clinical manifestations were different, but there was some overlap. All four children were found with heterozygous mutations in the ATP 1 A 3 gene, including three de novo and one maternal inherited missense mutation. Among which, c.2423 C>T, has not been reported, and c.2839 G>C, c.2401 G>A and c.2452 G>A are reported as pathogenic mutations. Conclusions ATP 1 A 3 gene mutations can cause different clinical phenotypes such as AHC, CAPOS syndrome and epilepsy. c.2423C>T, is a novel pathogenic mutation that has not been reported.

Clinical and genetic characteristics of a young child of epilepsy with myoclonic-atonic seizure caused by CACNA1H gene mutation

HU Xiaoyue, HUA Ying, WANG Yanping, et al

Journal of Clinical Pediatrics. 2020, 38(11): 821. doi:10.3969/j.issn.1000-3606.2020.11.005

Abstract ( 562 )

PDF (1527KB) ( 305 )

Related Articles | Metrics

Objective To analyze the clinical and genetic characteristics of epilepsy with myoclonic-atonic seizure caused by CACNA1 H gene mutation. Method Clinical analysis, laboratory examination and gene sequencing of a case of drug-resistant epilepsy with myoclonic-atonic seizure were retrospectively analyzed. Results At the age of 1 year, the patient had febrile convulsions. At the age of 2 years and 4 months, he had myoclonus, atonic and absence seizures, accompanied by developmental delay. Multiple antiepileptic drugtreatment is ineffective. Finally, he was responsive to lamotrigine. A novel heterozygous variation c. 3633 G > A (p.R 1215 H) in CACNA1H gene was found. According to the guidelines of American Society of Medical Genetics and Genomics, the variation was rated as likely pathogenic, which was consistent with autosomal dominant inheritance. Conclusion This study expanded the genotype of epilepsy with myoclonic-atonic seizure, which is of great significance for the precise treatment of refractory epilepsy.

Clinical features and prognosis of myelin oligodendrocyte glycoprotein antibody associated demyelinating disease in 57 children

SUN Hong, TAN Jianmin, LIU Jinglin, et al

Journal of Clinical Pediatrics. 2020, 38(11): 824. doi:10.3969/j.issn.1000-3606.2020.11.006

Abstract ( 481 )

PDF (1353KB) ( 203 )

Related Articles | Metrics

Objective To explore the clinical features and prognosis of myelin oligodendrocyte glycoprotein (MOG) antibody-associated demyelinating disease in children. Methods The clinical data of MOG antibody-associated demyelinating disease in 57 children hospitalized from January 2014 to October 2019 were retrospectively analyzed, and the prognosis of the children who were followed up for more than 6 months was analyzed. Results In 57 children ( 28 boys and 29 girls) with a median onset age of 7 . 3 ( 5 . 2 - 10 . 5 ) years, 35 children ( 61 . 4 %) had precursor events such as infection or vaccination before onset. There were 45 cases ( 78 . 9 %) with intracranial hypertension, 43 cases ( 75 . 4 %) with fever, and 40 cases ( 70 . 2 %) with encephalopathy. Acute disseminated encephalomyelitis (ADEM, 49 . 1 %) was the most common clinical phenotype, and MOG antibody and anti-N-methyl-D-aspartate acid receptor (NMDAR) antibody coexisted in 5 cases (8.8%). The MOG antibody titer in serum was higher than that in cerebrospinal fluid, the difference was statistically significant (P< 0 . 05 ). Fifty-two children underwent head MRI, and the white matter ( 40 cases, 76 . 9 %), basal ganglia ( 27 cases, 51 . 9 %), and thalamus ( 22 cases, 42 . 3%) were more commonly affected. The scores of the extended disability status scale (EDSS) decreased after intravenous injection of IVIG and / or high-dose hormone therapy in most children during the acute phase, and the difference was statistically significant (P< 0 . 001 ). Twenty-nine children were followed up for more than 6 months, and 14 of them had relapsed. The fever at the first episode was more common, and more than 2 week interval between the onset and IVIG and / or hormonal impulse therapy were more commonly observed in relapsed children, the difference was statistically significant (P< 0 . 05 ). There is no clear correlation between serum MOG antibody titers and EDSS scores of children in the acute phase, and it could not accurately assess or predict the stability or relapse of the disease. Conclusion ADEM is the most common clinical phenotype of MOG antibody associated demyelinating disease in children. MOG antibodies can also co-exist with anti-NMDAR antibodies. IVIG and / or hormonal impulse therapy can effectively relieve the symptoms of disability in acute stage. Fever at first episode and more than 2 week interval between the onset and IVIG and / or hormone treatment may be related to relapse.

A case report of spinal muscular atrophy with respiratory distress type 1 with multiple peripheral nerve damage

ZHENG Anjie, HAO Lihong, SHI Wujuan, et al

Journal of Clinical Pediatrics. 2020, 38(11): 831. doi:10.3969/j.issn.1000-3606.2020.11.007

Abstract ( 554 )

PDF (1251KB) ( 176 )

Related Articles | Metrics

Objective To report the clinical manifestations and neuroelectrophysiological results of a child diagnosed as spinal muscular atrophy with respiratory distress type 1 (SMARD 1 ). Methods Clinical data of a case of SMARD 1 was analyzed. Results This case was small for gestational age. After birth, there was a weak cry, and the condition gradually progressed. On the 31st day after birth, there was a poor milk intake and a weaker cry. During hospitalization, there was respiratory failure. Under ventilation, there was still intermittent spontaneous shortness of breath and decreased blood oxygen saturation. Right diaphragmatic eventration and inflammatory consolidation were present in bedside chest radiograph after tracheal intubation. The genetic test found two compound heterozygous mutations in IGHMBP2 . Among these two mutations, nonsense mutation of c. 1813 C>T was inherited from his mother, and c. 905 _ 912 + 84 del was inherited from his father. Neuroelectrophysiology showed multiple peripheral nerve damage. Conclusion SMARD 1 is a rare autosomal recessive disorder. The mutation of IGHMBP 2 gene causes progressive damage of α motor neurons in the anterior horn of the spinal cord

Clinical data and gene variation analysis of a case of pachygyria with subcortical band heterotopia

ZHANG Xinyang ZHOU Fujun CUI Qingyang

Journal of Clinical Pediatrics. 2020, 38(11): 834. doi:10.3969/j.issn.1000-3606.2020.11.008

Abstract ( 513 )

PDF (1528KB) ( 307 )

Related Articles | Metrics

Objective To improve the understanding of clinical phenotype and genotype of pachygyria with subcortical band heterotopia. Method The clinical data and genetic test results of a boy with pachygyria with subcortical band heterotopia were retrospectively analyzed. Results A boy aged 1 -month- 25 -day was admitted to the hospital for 1 week due to poorly playful response. Clinical features included soft anterior fontanelle, slightly hypertonia in lower limbs, and head circumference was 38 cm. The neuropsychological development test for 0 - 6 years showed a low developmental quotient. Head MRI revealed pachygyria with subcortical band heterotopia in bilateral frontal parietal lobe. Next generation sequencing revealed a c.829 C>T hemizygous variation in DCX gene, which was inherited from his mother. This pathogenic mutation of DCX gene has been reported in the literature. Conclusion The mutation found in this patient was the first report in China, which expanded local mutation spectrum of DCX.

Risk factors for the long-term prognosis of tuberculous meningitis in children

ZHU Hui, TIAN Maoqiang, LIU Shuyi, et al

Journal of Clinical Pediatrics. 2020, 38(11): 838. doi:10.3969/j.issn.1000-3606.2020.11.009

Abstract ( 404 )

PDF (1262KB) ( 228 )

Related Articles | Metrics

Objective To analyze the risk factors of the long-term prognosis of tuberculous meningitis (TBM) in children, and to evaluate the predictive value of cerebrospinal fluid (CSF) lactate dehydrogenase (LDH) on the long-term prognosis of TBM. Methods The clinical and follow-up data of TBM children admitted between January 2013 to October 2019 were retrospectively analyzed. Results A total of 88 children were included, including 48 boys and 40 girls, with a median age of 7.5 years ( 3 months to 14 years). Twenty-seven of the 88 patients ( 30 . 7 %) had poor prognosis, including 12 cases complicated with severe disability and 15 deaths. In contrast, 61 cases ( 69 . 3 %) had a good prognosis, including 45 cases cured, 11 children with mild disability and 5 children with moderate disability. Univariate analysis showed that the long-term prognosis was associated with younger age, clinical status at the stage III, limb paralysis, convulsion, significantly increased LDH level and hydrocephalus (all P< 0 . 05 ). The area under the curve was 0 . 81 (P< 0 . 001, 95 %CI : 0 . 71 - 0 . 88 ) to predict poor prognosis. When CSF LDH cut-off value ≥ 103 U/L, ROC curve analysis showed that the sensitivity and specificity of the long-term adverse prognosis were 63 . 0 % and 91 . 8 %. Multivariate logistic regression analysis showed that clinical status at the stage III (OR=19.48, 95%CI: 3. 49 - 108. 68 ) and LDH ≥ 103 U/L (OR= 16 . 27 , 95 %CI: 1 . 16 - 227 . 95 ) were independent risk factors for poor long-term prognosis of TBM (all P< 0 . 05 ). Conclusions The independent risk factors for long-term poor prognosis of TBM were clinical status at the stage III and CSF LDH ≥ 103 U/L. CSF LDH is a valuable predictor of long-term poor prognosis in TBM.

Value of aEEG combined with AOPP and sLOX-1 in the early diagnosis of brain injury in premature infants

YUAN Wenjie, WU Ming, XU Yan, et al

Journal of Clinical Pediatrics. 2020, 38(11): 842. doi:10.3969/j.issn.1000-3606.2020.11.010

Abstract ( 339 )

PDF (1252KB) ( 228 )

Related Articles | Metrics

Objective To investigate the value of amplitude integrated electroencephalogram (aEEG), advanced oxidation protein product (AOPP) and soluble form of lectin-like oxidized low-density lipoprotein receptor- 1 (sLOX- 1 ) in the early diagnosis of brain injury in preterm infants. Methods A total of 63 premature infants in NICU with high risk of brain injury were selected from September 2018 to September 2019 . According to MRI, the patients were divided into brain injury group ( 27 cases) and non brain injury group ( 30 cases).All of them were detected by aEEG within 6 hours after birth.Meanwhile, plasma was collected at 6 th hour, 3th day and 7th day after the birth of thepremature infants. The indexes were analyzed by logistics and the working characteristic curve of the subjects, and the aEEG, sLOX- 1 and AOPP wereused to calculate the sensitivity, specificity and AUC of single and combined detection. Results There was no significant difference in gestational age, birth weight and gender between the two groups (P> 0 . 05 ). The abnormal rate of aEEG in brain injury group ( 88 . 9 %) was significantly higher than that in non brain injury group ( 26 . 7%) (P< 0 . 001 ). The scores of Cy, Co, B and total of aEEG in brain injury group were significantly lower than those in non brain injury group (P< 0 . 05 ). There was no significant difference in LB between the two groups (P= 0 . 07 ). The levels of sLOX- 1 and AOPP in the plasma of the brain injury group were significantly higher than those of the non brain injury group (P< 0 . 001 ). The sensitivity, specificity and area under the curve of the combined diagnosis were 0 . 93 , 0 . 90 and 0 . 96 , respectively. Conclusion aEEG combined with AOPP and sLOX- 1 can significantly improve the early diagnosis of brain injury in preterm infants, and has a better clinical value in the early diagnosis of brain injury in preterm infants.

Clinical features of 7 patients with basal ganglia germinoma

YAO Chunmei, DENG Yaxian, WANG Yajie, et al

Journal of Clinical Pediatrics. 2020, 38(11): 847. doi:10.3969/j.issn.1000-3606.2020.11.011

Abstract ( 392 )

PDF (1380KB) ( 223 )

Related Articles | Metrics

Objective To summarize the clinical characteristics of patients with basal ganglia germinoma (BGC). Method The general information, clinical manifestations, laboratory examination and imaging results of seven patients with BGC were retrospectively analyzed. Results A total of seven patients diagnosed with BGC were retrospectively analyzed, including six males and one female, with a median age of ten years and eight months. The median time from onset to diagnosis was three months. The most common clinical manifestations were lateral limb weakness. Alpha-fetoprotein and beta-human chorionic gonadotrophin were normal, and specific oligoclonal bands in cerebrospinal fluid was positive in some patients. The common imaging findings were unilateral basal ganglia atrophy accompanied by cerebrum atrophy, and bilateral basal ganglia can also be involved. All the seven patients were confirmed by stereotactic biopsy histopathology. Conclusions BGC is characterized by lateral limb weakness and early imaging findings were atypical. The imaging features are the basal ganglia and cerebral peduncle.

Prevalence and predictors of left ventricular reverse remodeling after drug therapy in children with new-onset dilated cardiomyopathy

PAN Yu, LIU Xiaoyan

Journal of Clinical Pediatrics. 2020, 38(11): 851. doi:10.3969/j.issn.1000-3606.2020.11.012

Abstract ( 363 )

PDF (1305KB) ( 156 )

Related Articles | Metrics

Objective To explore the prevalence and predictors of left ventricular reverse remodeling after drug therapy in children with new-onset dilated cardiomyopathy. Methods The clinical data of new-onset dilated cardiomyopathy and endocardial fibroelastosis were retrospectively analyzed in 55 children who were hospitalized from February 2012 to November 2018 and were followed up to January 2020 or death. The standard drug treatment was given to the children after hospitalization and discharge. Left ventricular inverse remodeling was defined as an increase in left ventricular ejection fraction (LVEF) by ≥ 10% from baseline and LVEF≥ 55 % during follow-up, and at the same time a decrease by ≥ 10% in left ventricular enddiastolic dimension z score (LVEDD-Z) after body surface area standardization from baseline and LVEDD-Z≤ 2 . The incidence of left ventricular inverse remodeling was investigated according to echocardiography results. The clinical and echocardiographic findings were collected at children's first admission. The baseline predictors of left ventricular reverse remodeling were analyzed by multivariate logistic regression. Results There were 55 children ( 16 males and 39 females) with a median age of 7 months (range: 23 days to 13 years and 2 months). After a median follow-up of 33 months (range 1 ~ 85 months), 25 children were found to have left ventricular reverse remodeling by echocardiography. The LVEF increased from ( 37 . 1 ±7 . 4 )% at admission to ( 65 . 7 ± 5 . 4 )% at follow-up, LVEDD-Z decreased from ( 9 . 5 ± 3 . 0 ) at admission to ( 1 . 3 ± 0 . 6 ) at follow-up, and the differences were statistically significant (P< 0 . 001 ). Univariate logistic regression analysis showed that pulmonary hypertension, moderate to severe tricuspid regurgitation and serum albumin level were associated with left ventricular reverse remodeling in new-onset dilated cardiomyopathy in children. Multivariate logistic regression analysis showed that neither moderate nor severe tricuspid regurgitation was an independent predictor of left ventricular reverse remodeling in recent-onset dilated cardiomyopathy in children (OR= 9 . 75 , 95 %CI: 1 . 03 ~ 87 . 62 , P< 0 . 05 ). Conclusions Nearly half of the children with recent-onset dilated cardiomyopathy can develop left ventricular remodeling after medical treatment, and children with moderate to severe tricuspid regurgitation are more likely to have left ventricular remodeling.

Genetic analysis and literature review of a case with neonatal primary congenital lymphedema

WEI Ying, GAO Jinzhi, CHEN Ling

Journal of Clinical Pediatrics. 2020, 38(11): 857. doi:10.3969/j.issn.1000-3606.2020.11.013

Abstract ( 417 )

PDF (1329KB) ( 232 )

Related Articles | Metrics

Objective To explore the clinical characteristics and gene mutation of primary congenital lymphedema (PCL). Method The clinical data and gene test results from a PCL child and his parents were retrospectively analyzed and relevant literature were reviewed. Results The boy had a full-term natural birth. Right pleural effusion was found before and after birth, accompanied by pericardial effusion, pleural effusion and edema of lower limbs. A novel heterozygous mutation of c. 3820 G > A (p.Asp 1274 Asn) inherited from his father was found in FLT 4 gene by gene detection. His father also had edema in both lower limbs after birth, which was gradually self-healing. Conclusion For children with congenital edema, it is necessary to pay attention to the family history and genetic testing could be performed to find the PCL and other congenital lymphatic dysplasia of the newborn.

Interleukin-7 promotes the activity peripheral CD14+ monocytes in children with idiopathic nephrotic syndrome

LIU Jun, FENG Shipin

Journal of Clinical Pediatrics. 2020, 38(11): 861. doi:10.3969/j.issn.1000-3606.2020.11.014

Abstract ( 383 )

PDF (1506KB) ( 118 )

Related Articles | Metrics

Objective To investigate the regulatory function of interleukin- 7 (IL- 7 ) to CD 14+ monocytes activity in children with idiopathic nephrotic syndrome (INS). Methods Thirty-three INS children and fifteen normal controls (NCs) were enrolled. Peripheral CD 14+ monocytes and CD 4+ T cells were isolated. Serum IL- 7 level was measured by ELISA. Mean fluorescence intensity (MFI) and mRNA relative level of CD 127 in CD 14+ monocytes was assessed by flow cytometry and real-time PCR, respectively. CD14+ monocytes from INS children were stimulated with recombinant human IL- 7 . Cytokine expression in cultured supernatants was measured by ELISA. The indirect and direct contact co-culture system was set up between CD 14+ monocytes and CD 4+ T cells. The percentage of interferon-γ-secreting Th 1 cells and IL- 17 -secerting Th 17 cells was measured by flow cytometry. Student t test or paired t test was used for comparison between the two groups. Results Serum IL- 7 was elevated in INS children compared with NCs (P< 0 . 0001 ). There were no significant differences of either CD 127 MFI or CD127 mRNA relative level in CD 14+ monocytes between NCs and INS children (P> 0 . 05 ). IL- 1 β, IL- 6 , IL- 8 , monocyte chemotactic protein- 1 , and tumor necrosis factor-α expression was elevated in IL- 7 stimulated CD 14+ monocytes from INS children compared with unstimulated cells (P<0 . 05 ). In direct contact co-culture system, CD 14+ monocytes from INS children raised Th1 and Th17 percentages in CD4+ T cells from INS children. Moreover, IL- 7 stimulated CD14+ monocytes induced higher Th1 and Th17 cells in comparison with unstimulated CD14+ monocytes (P<0 . 05 ). In direct contact co-culture system, anti-IL- 6 neutralizing antibody suppressed the elevation of Th1 cells, which induced by IL- 7 stimulated CD14+ monocytes from INS children. Conclusion IL- 7 promoted proinflammatory cytokines production by CD 14+ monocytes from INS children. IL- 7 stimulated CD14+ monocytes also induced CD4+ T cells activation via direct contact and IL- 6 secretion in INS children.

Clinical and genetic analysis of a child with Williams-Beuren syndrome with adrenal insufficiency

CHANG Guoying, LI Qun, LI Juan, et al

Journal of Clinical Pediatrics. 2020, 38(11): 867. doi:10.3969/j.issn.1000-3606.2020.11.015

Abstract ( 425 )

PDF (1273KB) ( 298 )

Related Articles | Metrics

Objective To analyze the clinical phenotypes and the genetic cause for a child with Williams-Beuren syndrome, and to explore its molecular mechanism. Methods The clinical data and genetic sequencing results of a child with Williams-Beuren syndrome who referred to our hospital with adrenal insufficiency were analyzed. Results The patient, one month and 20 days old boy, visted our clinic because of pigmentation in his whole body. He had a little elve face, pigmentation, which is especially evident in skin crease and his lip, 3 /6 cardiac murmur, umbilical hernia, pigmentation in vulva, and a mass in the left scrotum. The lab examination showed that hyperkalaemia, high level lactic acid, Endocrine hormone displayed a lowlevel cortisol and adrenocor ticotropic hormore was in a high level on feedback. The ultra sound of heart showed supravalvular aortic stenosis, pulmonary artery stenosis and atrial septal defect (II). Perineum Ultrasonography showed bilateral inguinal hernia, and the ultrasound and CT of adrenal gland was normal. Next generation sequencing revealed a 0 . 73 Mb deletion on the 7 q 11 . 23 (chr7 :73 , 442 , 119 - 74 , 175 , 022 ) region of the child. The region included 15 protein-coding genes. Conclusion A child with characteristic manifestation of Williams-Beuren syndrome and adrenal insufficiency was diagnosed using next generation sequencing, and his adrenal insufficiency was rare. The deletion on 7 q 11 . 23 underlied the disease in this boy.

A case with 12q14 microdeletion syndrome and literature review

CHEN Jian, MENG Yan, WANG Bin, et al

Journal of Clinical Pediatrics. 2020, 38(11): 872. doi:10.3969/j.issn.1000-3606.2020.11.016

Abstract ( 555 )

PDF (1378KB) ( 315 )

Related Articles | Metrics

Objective To report a rare case of 12 q 14 microdeletion syndrome with overlapping phenotypes of SilverRussell syndrome（SRS） combined with early puberty, and to review the relevant literatures to find genotype-phenotype corelation. Methods By searching PubMed, Wanfang Medical Database and China HowNet, a total of 26 cases of 12 q 14 microdeletion syndrome were reported abroad. The clinical features and genetic change in these 26 cases and one patient diagnosed in our hospital were summarized. Results The girl is 9 years and 3 months old. Clinical features included short stature (height: 113 cm/- 3 . 6 SD; weight: 18 . 4 kg/- 2 . 1 SD; head circumference (HC): 45 cm/- 4 . 2 SD), intellectual disability, learning difficulties, patent ductus arteriosus, congenital right renal dysplasia, facial dysmorphism, scoliosis, and early puberty. Chromosome microarray analysis identified a 5 . 8 Mb deletion in 12 q 14 . 2 q 15 band. The common clinical phenotypes in 27 patients with 12 q 14 microdeletion syndrome included short stature ( 23 cases, 85 %), craniofacial malformations ( 22 , 81 %), and small for gestational age infant (SGA) ( 21 , 78 %), intellectual disability/developmental delay ( 21 , 78 %), feeding difficulties ( 15 , 55 %), delayed language development ( 12 , 44 %), learning difficulties ( 10 %), osteopoikilosis ( 6 , 22 %), congenital heart disease ( 6 , 22 %), Other clinical phenotypes included relative macrocephaly ( 5 , 18 %), scoliosis ( 4 , 15 %), and autism ( 4 , 15%). Nine of the 27 patients were diagnosed as SRS in the final diagnosis ( 33 . 3%). The HMGA2 gene was deleted in 23 patients with short stature; the GRIP1 gene was deleted in 21 patients with intellectual disability / developmental delay, 6 patients were diagnosed with osteopoikilosis with LEMD 3 gene deletion. Conclusion The most common clinical phenotype of 12 q 14 microdeletion syndrome is short stature. It is important to measure growth hormone level and pubertal signs for follow-ups with these patients to avoid consequential short statue in adulthood. Children with LEMD 3 gene deletion need to monitor bones for early detection of osteopoikilosis. Chromosome microarray analysis should be considered for patients diagnosed with idiopathic SRS, especially if they have any atypical features such as microcephaly or more severe learning problems or intellectual disability.

Research progress of TLR4 in neonatal necrotizing enterocolitis

WANG Yanyan, WU Jin

Journal of Clinical Pediatrics. 2020, 38(11): 877. doi:10.3969/j.issn.1000-3606.2020.11.017

Abstract ( 381 )

PDF (1179KB) ( 302 )

Related Articles | Metrics

Neonatal necrotizing enterocolitis (NEC) is a life-threatening intestinal disease in neonates and the leading cause of mortality in gastrointestinal diseases in premature infants. The etiology of NEC is multifactorial, including preterm delivery, artificial feeding, intestinal flora alteration, infection and genetic factors, but its exact pathogenesis is not fully understood. The elevation of Toll-like receptor 4 (TLR4 ) expression in intestinal cells of premature infants is considered to be a key factor involved in the occurrence of NEC. Considering the increasing findings emerged upon the role of TLR 4 in the pathogenesis of NEC, this review mainly discusses the related new research progress and the potential therapeutic approaches for NEC.

Table of Content