Journal of Clinical Pediatrics

Two cases of rapidly onset childhood dystonia-Parkinson's syndrome and literature review

DING Le, GUO Hu, ZHANG Gang, et al

Journal of Clinical Pediatrics. 2019, 37(11): 801. doi:10.3969/j.issn.1000-3606.2019.11.001

Abstract ( 329 )

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Objective　To explore the clinical features and genotype-phenotypic correlation of rapidly onset childhood dystonia-Parkinson's syndrome (RDP). Methods　Clinical data of 2 cases of RDP children with ATP1A3 gene R756H mutation in Children's Hospital affiliated to Nanjing Medical University from May to June, 2018 were collected, and the search terms "RDP" and "ATP1A3 R756H" were retrieved respectively in both Chinese (CNKI and Wanfang) and English (PubMed, HGMD and OMIM) databases. Results　The clinical manifestations of the two male children, aged 7 and 9, in this study were dysarthria, myasthenia, dystonia with limb dithering (Parkinson-like movement) after fever. The same mutation, ATP1A3 R756H, was identified on both children by whole exome sequencing. The literature retrieved 8 cases of RDP caused by the variation of R756H in ATP1A3 gene, which were similar to the clinical manifestations of the children in this study. Conclusion　The main clinical features of RDP induced by ATP1A3 gene R756H mutation are muscle weakness induced by fever, dysphonia and Parkinson-like limb dithering.

Epileptic negative myoclonus as the first or only seizure type of epilepsy in 4 children

KUANG Xiaojun, NING Zeshu, LIAO Hongmei, et al

Journal of Clinical Pediatrics. 2019, 37(11): 805. doi:10.3969/j.issn.1000-3606.2019.11.002

Abstract ( 262 )

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　Objective　To investigate the electro-clinical characteristics of epileptic negative myoclonus (ENM) as the first or only seizure type in children. Methods　The EEG characteristics, clinical manifestations, treatment and outcome of 4 children with epilepsy featured by ENM as the first or only seizure type were retrospectively analyzed. Results　Among 4 cases, there were 3 males and 1 female, the average age of onset was 1.85±0.61 years (1 year 5 months to 2 years 9 months old). Mental development and neuroimaging findings were normal, and blood/urine tandem mass spectrum is negative. ENM was the first seizure type in all 4 cases, of which ENM were the only type of seizure in 3 cases, and 1 case had focal seizures after ENM. EEG findings showed the EEG background rhythm was normal, the onset period and interictal period were Rolandic region spikeslow waves, the discharge mode of onset period is consistent with the interictal period. Two cases were controlled with valproate within 3 months, and other 2 cases were treated with many methods but eventually the seizures were completely controlled, in which seizure was worsened by carbamazepine treatment in one case, but controlled after stopping carbama zepine and adding clonazepam treatment. Another case was found with EEG findings of electrical status epilepticus during sleep after treatment for 5 months, the symptom was controlled by methylprednisolone treatment. Follow-up of 3 cases (1 lost follow-up) showed discharges of different quantities still existed in Rolandic region in last VEEG, and 3 cases had learning difficulties, behavioral disorders or ADHD in varied degrees. Conclusion　Children with ENM as the first or the only seizure type had specific EEG patterns and similar clinical features.

Clinical analysis on 3 cases of hemiconvulsion-hemiplegiaepilepsy (HHE) syndrome and literature review

YE Pengyan, YI Mingji, ZHANG Ying

Journal of Clinical Pediatrics. 2019, 37(11): 809. doi:10.3969/j.issn.1000-3606.2019.11.003

Abstract ( 306 )

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　Objective　To summarize the clinical characteristics and diagnosis of hemiconvulsion -hemiplegia-epilepsy (HHE) syndrome. Methods　The clinical data of 3 children with HHE admitted in the Department of Pediatrics, the Affiliated Hospital of Qingdao University from 2017 to 2019 were retrospectively analyzed with related literatures reviewed. Results　All the 3 cases were female. The age of onset was 3 years old, 1 year and 2 months old, 6 years and 11 months old, respectively. All the first convulsions were accompanied by fever and convulsive status epilepticus. Right hemiplegia occurred in 2 cases and left hemiplegia in 1 case. Abnormal liver function and myocardial enzymes occurred in 1 case. Abnormal changes in cranial magnetic resonance imaging or cranial CT were observed in all 3 children which is in accordance with clinical symptoms. After hemiplegia occurred, 3 cases had recurrent epileptic seizures which were completely controlled temporarily after being treated with oxcarbazepinebased antiepileptic drugs. Gene detection was performed in case 1 and case 2. In case 1, 9.1Mb deletion in chr5q33.3q34 including a large number of functional genes such as GABRA1 and GABRA2 were detected by chromosome microarray. In case 2, no abnormality was found. Conclusion　HHE syndrome is a rare consequence of convulsive status epilepticus in children. The occurrence of HHE syndrome can be effectively reduced through further understanding of the syndrome and early appropriate treatment of status convulsion.

Analysis of the seizure types of 345 children with epilepsy and epilepsy syndrome

JIANG Yongsheng, SONG Tingting, ZHANG Xiaoge, et al

Journal of Clinical Pediatrics. 2019, 37(11): 812. doi:10.3969/j.issn.1000-3606.2019.11.004

Abstract ( 290 )

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Objective　To understand further clinical characteristics of childhood epilepsy. Methods　Clinical data of 345 children with epilepsy visited to two childhood epilepsy specialist clinics in the city of Xi'an during 6 months were retrospectively analyzed. New classification method was used to summarize the onset type. Results　Among 345 cases of epilepsy, 176 cases were male and 169 cases were female. The age of onset of epilepsy was between 1 month to 18 years old. Children with age of younger than 3 years old were 145 cases (42.0%), 3~6 years old 96 cases (27.8%), 6~12 years old 97 cases (28.1%), and 12~18 years old 7 cases (2.0%). In this study, 159 cases (46.0%) were not classified as epilepsy syndrome, their distribution according to seizure types were as follows: focal seizures were 83 cases (52.2%), generalized seizures 74 (46.5%) and unknown-initially seizures 2 (1.3%) . Of them 186 (53.9%) cases were classified as epilepsy syndrome, including 63 (33.9%) of benign childhood epilepsy with central-temporal spikes, 24 (12.9%) of benign infantile epilepsy, 18 (9.7%) of infantile spasm, 18 (9.7%) of Dravet syndrome and 13 (7.0%) of children with childhood absence epilepsy, their distribution according to seizure types were as follows: focal seizures were 146 (58.6%), generalized seizures were 103 (41.4%). Conclusion　The highest incidence of epilepsy in children was in infancy; focal seizures were higher than generalized seizures; half of the children with epilepsy could be classified as epilepsy syndrome.

Phenotype and genotype analysis of 10 cases with KCNQ2 gene mutation-related epilepsy

FANG Hongjun, FEI Mei, HU Wenjing, et al

Journal of Clinical Pediatrics. 2019, 37(11): 816. doi:10.3969/j.issn.1000-3606.2019.11.005

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　Objective　To investigate the correlation between clinical phenotype and genotype in children with epilepsy associated with KCNQ2 gene mutation. Methods　10 EOEE (early-onset epileptic encephalopathy) patients including a pair of twins with KCNQ2 mutations were studied. Whole-exome sequencing (WES) was performed to identify genetic change and relevant clinical features were collected. Sanger sequencing was performed to confirm variants detected by WES. Clinical features were evaluated by neurological specialists. EEG, MRI and treatment information were collected accordingly. Results　Ten (10) patients with KCNQ2 mutations were reported in our study. WES identified 5 novel KCNQ2 mutations (c.1720_1721delGG, c.185C>T, c.2180A>G, c.2245G>A, c.1164A>T)，and three reported mutations (c.917C>T, c.1687G>A, c.1741C>T) in 10 patients with early-onset epilepsy encephalopathy. In twin patients with stop-gain mutation of c.807G>A, one presented with benign familial neonatal seizures, while the other with EOEE. Five of other six family members of the twins investigated were c.807G> A mutation carriers. Ten patients underwent single-agent or combination therapy with phenobarbital, sodium valproate, topiramate, oxcarbazepine, and levetiracetam. For most patients, the symptoms were improved with less frequent or no seizures. Conclusion　KCNQ2 gene-associated epilepsy is a lineage disease, and KCNQ2 mutations can lead to a variety of clinical phenotypes ranging from the heaviest EOEE to the mildest familial neonatal epilepsy. The type and site distribution of KCNQ2 gene mutations may be associated with clinical phenotypes. Individualized treatment is extremely important for KCNQ2 mutation-related epilepsy.

Clinical features and PLA2G6 gene mutations analysis of two siblings with infantile neuroaxonal dystrophy

LI Juan, PENG Longying, SHU Xiaomei

Journal of Clinical Pediatrics. 2019, 37(11): 820. doi:10.3969/j.issn.1000-3606.2019.11.006

Abstract ( 321 )

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　Objective　To explore clinical features and PLA2G6 gene mutation characteristics of infantile neuroaxonal dystrophy (INAD) in 2 siblings. Method　The clinical data of INAD diagnosed by gene detection were reviewed and analyzed. Results　Onset of symptoms started at 2 year and 4 months in the younger brother and 1 year and 2 months in older sister, both of them acquired appropriate motor and cognitive milestones for age. Both of them presented motor and speech regression. With the younger brother, the progression of the disease was rapider than older sister, for him walking ability was lost at 3 years old, speech ability was lost at 5 years old. For the older sister, despite earlier onset, progression of the disease was slower that rapid motor and speech regression occurred until the age of 4. She lost walking and speaking ability at 5 years old, so far she is 11 year and 7 months old, still alive. Both of them had muscular hypertonia, spastic paralysis and positive pathological signs, but visual acuity, hearing and cognitive impairment was mild. Our patients show classic radiological features of INAD: cerebellar cortical atrophy with involvement of vermis and hemisphere. MRI for the older sister MRI showed bilateral and symmetrical T2/FLAIR hypointense signal changes in globus pallidus (brain iron accumulation). The genetic study revealed compound heterozygous mutations, a c.1993A>G (p.Met665Val) inherited from father and a c.28dupA (p.Thr 10Asnfs Ter11) inherited from mother in PLA2G6 gene, respectively. Furthermore, silico analysis predicted these variant can alter protein structure and function. Conclusions　This report has expanded the gene mutation spectrum of Chinese INAD patients. A novel mutation c.1993A>G in PLA2G6 gene may cooperate with the known pathogenic c.28dupA mutation to result in the autosomal recessive disorder of INAD.

Genotype-phenotype analysis in a patient of leukoencephalopathy with vanishing white matter

XU Hui, LIU Kaiyun, JIA Wanshu, et al

Journal of Clinical Pediatrics. 2019, 37(11): 824. doi:10.3969/j.issn.1000-3606.2019.11.007

Abstract ( 283 )

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　Objective　To analyze the clinical features and early diagnosis of leukoencephalopathy with vanishing white matter (VWM). Method　The clinical data and gene sequencing report of one child with VWM were retrospectively analyzed, and relevant literatures at home and abroad were reviewed. Result　The child, a 16-month–old girl, had normal movement and intelligence before onset. The motor development and intelligence were rapidly regressed after fever. Dysphagia, dysarthria, inability to walk and coma gradually appeared within one week. Cephalic MRI suggests an abnormal white matter, diffused symmetry, and a signal similar to that of cerebrospinal fluid. The results of genetic sequencing identified two missense mutations: c.407G>A (p.R136H) mutation on exon 3 and c.994G>A (p.R315H) mutation on exon 7 in EIF2B5 gene. VWM has poor prognosis and has no effective treatment, and coma was present after anti-infection and supportive treatment. Conclusion　Two missense mutations: c.407G>A (p.R136H) mutation and c.994G>A (p.R315H) mutation are novel. Early genetic analysis is suggested to make a definite diagnosis for leukoencephalopathy with VWM.

Clinical analysis of 9 cases of parasitic encephalopathy in children

CHEN Lianfeng, CHEN Wenxiong, LI Xiaojing, et al

Journal of Clinical Pediatrics. 2019, 37(11): 827. doi:10.3969/j.issn.1000-3606.2019.11.008

Abstract ( 266 )

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　Objective　To investigate clinical characteristics of parasitic encephalopathy in children. Methods　A retrospective study was carried out to analyze the clinical data of 9 cases of parasitic encephalopathy from December 2014 to December 2018. Results　There were 6 males and 3 females suffered from parasitic encephalopathy. The average age was (2.81±1.53) years. 5 cases with epidemiological exposure history were identified. Main clinical manifestations included: fever (8), mental fatigue (7), vomiting (5), headache (2), convulsion (2), paralysis of the left leg (1), ataxia (1), confusion of consciousness with abnormal mental behavior (1), and hyperalgesia of the right upper limb (1). Routine test and biochemistry indicators of cerebrospinal fluid were abnormal in 8 cases, accompanied with increased eosinophil counting in 5 cases. Peripheral blood eosinophil increased in 8 cases. Specific antibodies in serum and cerebrospinal fluid were both positive in 5 cases. Angiostrongylus cantonensis in 2 cases was detected by Next-Generation Sequencing of cerebrospinal fluid. Magnetic resonance imaging showed leptomeningeal enhancement in 2 cases, and abnormal signals in brain parenchyma in 4 cases. 7 cases were confirmed as parasitic encephalopathy: Angiostrongyliasis cantonensis (5), cerebral toxoplasmosis (5), cerebral sparganosis (1), and 2 suspected cases. 7 cases were treated with albendazole, 1 with SMZco followed by acetylspiramycin, and 1 treated with surgery. Finally, 7 cases were cured and had no sequela,1 left a limp of the left leg, and 1 failed to follow up. Conclusion　If children had intracranial infectious diseases accompanied with peripheral blood eosinophils increasing, parasitic encephalopathy should be considered, especially Angiostrongyliasis cantonensis in Guangdong.

Clinical analysis of 19 preterm and term infants with cerebral infarction

HUANG Chunling, CHANG Yanmei, LIU Yunfeng, et al

Journal of Clinical Pediatrics. 2019, 37(11): 833. doi:10.3969/j.issn.1000-3606.2019.11.009

Abstract ( 273 )

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Objective　To explore the etiology, clinical manifestation, imaging and outcome of preterm and term infants with cerebral infarction. Methods　Medical records of the newborn in our hospital during January 1st, 2013 to January 31th, 2018 were retrospectively analyzed. Meanwhile, differences of clinical features, imaging and outcome of neonatal cerebral infarction between preterm and term infants were compared. Results　Among 19 infants with cerebral infarction, 8 cases were term infants, and 11 were preterm infants. All of term infants were with ischemic cerebral infarction (8/8), while preterm infants are mostly affected with hemorrhagic cerebral infarction (8/11). The ischemic infarction is frequently found in the middle cerebral artery (9/11, 81.8%), and the hemorrhagic cerebral infarction often occurred in the cerebral ventricular venous infarction for prematuem infants (8/8, 100%). Causes include vascular dysplasia (6), perinatal hypoxia (6), severe infection (3), congenital lack of clotting factors (2), multiple causes participation (5) and unknown etiology (4). There was no significant difference between the preterm group and term group in perinatal risk factor analysis. The cerebral infarction of the term infants mostly manifested convulsion (6/8) within 4 days after birth. There was no specificity in the onset of preterm infants, 2 cases were characterized by convulsions, and the remaining had no specific clinical manifestations, (9/11) occurred within 7 days after birth. Among the 19 cases, 12 patients were in remission and then discharged from the hospital, while 7 cases didn’t receive the treatment as their parents gave up the treatment, 5 of them died shortly. Conclusions　Neonatal cerebral infarction may both occur in full term and preterm infants, but their clinical manifestations are different. In particular, preterm infants do not have any specific clinical manifestations that require imaging examination to confirm diagnosis. The clinical complications are usually severe with large scope of infarction and poor prognosis.

Early detection and management of positive reactions and complications of neurally mediatied syncope in children during head-up tilt test

LI Yao, HE Shuang, ZHANG Lei, et al

Journal of Clinical Pediatrics. 2019, 37(11): 837. doi:10.3969/j.issn.1000-3606.2019.11.010

Abstract ( 397 )

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　Objective　To explore early detection and timely treatment of positive reactions and complications of neurally mediated syncope (NMS) children during head-up tilt test (HUTT). Methods　Clinical data of children with NMS diagnosed with HUTT positive examination were retrospectively analyzed. Results　In 201 NMS patients, there were 95 males and 106 females, aged from 7.33 to 9.75 years old. Of them, 98 cases were postural tachycardia syndrome, and 103 cases were vasovagal syncope (VVS). In HUTT test, 5 (2.5%）cases had syncope who were all VVS, 200 (99.5%）cases have complications including 182 (90.5%) with sinus tachycardia and 38 (18.9% ) with sinus bradycardia. In all cases with sinus tachycardia and sinus bradycardia, there were 20 cases (10.0%) with sudden rise and drop in heart rate, 2 (1.0%) with cardiac arrest, 2 (1.0%) with junctional escape beat, 1(0.5%) with II° atrioventricular block, 1 (0.5%) with atrial prematuem beats, 2 (1.0%) with convulsions, and 2 (1.0%）with temporary aphasia. By lying down immediately, once reached positive reaction, oxygen supply, raising and massaging both lower extremities if syncope occurs, compressing chest if cardiac arrest occurs, partial patients given oral milk after wakefulness, and the manifestations above in all the patients disappeared quickly, consciousness, heart rate, blood pressure, ECG return to normal, and no sequela and death. It showed 90.0% (181/201） presyncope in HUTT, and 53.7%（108/201） had presyncope, after then reached positive response, 95%（103/108） of these patients had reached positive response after presyncope in 8 min. There were 23.4% (47/201）presyncope and positive response occurred simultaneously. Conclusion　NMS children have risk during HUTT. The key to reduce the risk of test is to recognize and manage the positive reaction and complications in time.

Analysis of clinical manifestations and genetic mutations in a family with congenital contractural arachnodactyly

LUO Yanfei, LI Juan, MIREGULI Maimaiti, et al

Journal of Clinical Pediatrics. 2019, 37(11): 843. doi:10.3969/j.issn.1000-3606.2019.11.011

Abstract ( 417 )

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Department of Neurology, Children’s Hospital of Chongqing Medical University; Ministry of Education Key Laboratory of Child Development and Disorders; China international Science and Technology Cooperation Base of Development and Critical Disorders; Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, China

Xia-Gibbs syndrome in a child caused by a de novo AHDC1 mutation and literature review

YANG Shuting, LI Mei, JIA Chunying, et al

Journal of Clinical Pediatrics. 2019, 37(11): 847. doi:10.3969/j.issn.1000-3606.2019.11.012

Abstract ( 647 )

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　Objective　To explore the safety and prognosis of interventional therapy for congenital heart disease (CHD) complicated with left ventricular non-compaction (LVNC) in children. Methods　The clinical data of congenital heart disease complicated with myocardial densification in children treated from January 2016 to October 2017 were retrospective analyzed. The changes of non-compacted layer/compacted layer (N/C) ratio and cardiac function parameters measured by color Doppler echocardiography before and after cardiac interventional therapy were compared. The complications were recorded. Results A total of 25 children (9 boys and 16 girls) were included and the median age was 1 year (0.14~8 years). There were 22 cases of patent ductus arteriosus, 2 cases of atrial septal defect and 1 case of ventricular septal defect. The differences in left ventricular end-diastolic diameter (LVEDD) -Z value and N/C ratio at pre-operation and at postoperative 1, 6 and 12 months were statistically significant (all P<0.05), with the lowest value at 12 months after operation. The LVNC basically disappeared during follow-up in 6 children. However, there was no significant difference in left ventricular ejection fraction (LVEF) between these time points (all P>0.05). There was no correlation among N/C ratio, LVEDD -z value and LVEF value before and at 1, 6 and 12 months after operation (all P>0.05). The median postoperative follow-up was 19 months (12-27 months), and no adverse cardiovascular events or arrhythmias occurred during the follow-up. Conclusions　For Children with CHD complicated with LVNC, when no contraindications exist, interventional therapy is recommended to reduce left to right shunt and cardiac overload. It is conducive to left ventricular myocardial development and ventricular reverse remodeling.

Clinical features and genetic analysis of Imerslund-Gräsbeck syndrome: a case report and literature review

LIU Libing, GAO Xiaojie, MA Yijiao, et al

Journal of Clinical Pediatrics. 2019, 37(11): 851. doi:10.3969/j.issn.1000-3606.2019.11.013

Abstract ( 314 )

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Objective　To investigate the clinical characteristics and genetic mechanism of Imerslund-Gr?sbeck syndrome (IGS). Methods　The clinical data and genetic test of a patient with IGS were collected and analyzed retrospectively. Related literatures were reviewed. Results　The patient presented with malnutrition, exercise retardation, megaloblastic anemia, vitamin B12 deficiency, and mild-moderate benign proteinuria. Whole exome sequencing identified a homozygous c.742C>T(p.Q248*) mutation of the AMN gene in the patient. Sanger sequencing found both of his parents are heterozygous carriers. Conclusion For children with megaloblastic anemia complicated with mild to moderate benign proteinuria, the possibility of IGS should be considered.

Clinical and genetic features of children with Temple-Baraitser syndrome

HU Jun, LIN Xiaoxia, QIU Mingqi, et al

Journal of Clinical Pediatrics. 2019, 37(11): 854. doi:10.3969/j.issn.1000-3606.2019.11.014

Abstract ( 498 )

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　Objective　To investigate the clinical features and gene mutation of Temple-Baraitser syndrome (TMBTS). Methods　The clinical data of a male infant with TMBTS were retrospectively analyzed. The clinical manifestations and genetic mutations of children with TMBTS were summarized. Results　The 7-month-old male proband visited our clinic because of motor developmental delay for half a year. The infant presented with marked hypotonia and poor visual contact during the neonatal period. His face was myopathic and he had a flat forehead, hypertelorism, broad depressed nasal bridge, thick alae nasi, full cheeks, long shallow philtrum, and a broad mouth with downturned corners. Nails were hypoplastic on both thumbs and great toes. Halluces were unusually long and tubular. The other fingernails were slightly hypoplastic. He was unable to hold his head up, grip toy, turn over, sit, and creep. His muscle strengths of limbs were of grade IV. The knee jerk reflex was normal. Pathological signs were negative. Whole exome sequencing of the proband and his parents revealed a de novo missense mutation in the TMBTS infant: c.1136T>C, p.Leu379Pro in KCNH1. This mutation in KCNH1 was predicted to be damaging. In addition, literatures review showed clinical features of TMBTS is resemble to that of ZimmermannLaband syndrome. More information of KCNH1 mutations and detailed clinical features are needed to distinguish these two syndromes. Conclusions　Our findings expand the mutational spectrum of KCNH1 in TMBTS, which provides a basis for the diagnosis, treatment and genetic counseling of TMBTS.

Clinical features of a Chinese infant with mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency and review of the literature

WANG Meijuan, GONG Youzhe, MA Xin, et al

Journal of Clinical Pediatrics. 2019, 37(11): 858. doi:10.3969/j.issn.1000-3606.2019.11.015

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　Objective　To explore the clinical features and genetic characteristics of mitochondrial 3-hydroxy-3methylglutaryl CoA synthase deficiency（HMGSD） . Method　The clinical data of mitochondrial HMGSD in a child was retrospectively analyzed, and related literature was reviewed. Result　A 9-month-old infant was admitted to the hospital with vomiting and convulsion for the first time and fever and cough for the second time. Laboratory tests showed hypoglycemia, acidosis, abnormal liver function and coagulation dysfunction. Urine organic acid analysis indicated dicarboxylic aciduria. Genetic testing showed that there were compound heterozygous mutations in HMGCS2 gene: c.1187+1G>C in exon 6 and c.648G>T in exon 3, which had not been reported before. Progressive clinical and biochemical improvement were observed after acidosis and hypoglycemia being corrected, anti-infectious and L-carnitine treatment. The child developed normally after a follow-up of half a year. Conclusion　Clinical manifestations of mitochondrial HMGSD in children are complex and varied. Definitive diagnosis can be achieved by gene analysis. Prompt diagnosis and early treatment are essential.

A case report of hyperprolinemia

LIAN Wenjun, ZHENG Hong, LU Xiangpeng, et al

Journal of Clinical Pediatrics. 2019, 37(11): 862. doi:10.3969/j.issn.1000-3606.2019.11.016

Abstract ( 399 )

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Objective　To explore clinical and genetic features for a rare genetic disease of hyperprolinemia. Methods　The clinical data of a patient with type I hyperprolinemia admitted were retrospectively analyzed, and related literatures were reviewed. Results　A 7 years and 6 months old boy came to our clinic due to unstable walking with repeated convulsions and abnormal behavior. Blood amino acid and ester acyl carnitine spectrum suggested increased proline level (2951.52 μmol/L), urine organic acid analysis suggested increased 3-hydroxypropionic acid, 3-methyl,crotonyl glycine and crotonyl glycine. Gene sequencing showed two heterozygous mutations in c.1073C>T and c.857C>T in PRODH, which were pathogenic by gene function prediction. Conclusion　For children with unexplained developmental delay seizures and abnormal mental behavior, blood amino acid and urinary organic acid analysis should be performed as early as possible. When blood proline levels are elevated, hyperprolinemia should be highly suspected. Genetic testing should be performed as soon as possible.

Clinical analysis of thrombocytopenia in 51 cases of very low birth weight infants

XIAO Jiali, HUANG Huafei, ZHOU Qinnv, et al

Journal of Clinical Pediatrics. 2019, 37(11): 866. doi:10.3969/j.issn.1000-3606.2019.11.017

Abstract ( 228 )

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　Objective　To investigate the causes and clinical characteristics of thrombocytopenia in very low birth weight infants. Methods　The clinical data of 51 very low birth weight infants with thrombocytopenia from January 2013 to December 2016 were retrospectively analyzed. Results　Among 51 cases, there were 31 males and 20 females, gestational age was 25+4 weeks to 36+1 weeks, the median birth weight was (1285±207.9) g, and the average onset age of thrombocytopenia was (11.84±13.16) days, delayed onsets were the most seen in 39 cases (76.5%). Infection accounted for 26 (66.7%) of 39 lateonset infants, and the causes of early-onset infants included asphyxia in 5 cases, pregnancy-induced hypertension in 4 cases, intrauterine growth retardation in 4 (1 had both pregnancy-induced hypertension and intrauterine growth retardation in the mother, and 1 had asphyxia, pregnancy-induced hypertension and intrauterine growth retardation in the mother). Among 51 cases, there were 31 (60.9%) had abnormal laboratory findings without bleeding (8 of early onset and 23 of late onset); 13 (25.4%) with intracranial hemorrhage (3 of early onset and 10 of late onset); 4 (7.8%) with pulmonary hemorrhage (1 of early onset and 3 of late onset); and 3 (5.9%) with cutaneous and mucosal hemorrhage (all of late onset). Forty-five (45, 88.2%) children had good prognosis and their platelets returned to normal after treatment; 10 infants with severe thrombocytopenia were given both intravenous administration of human immunoglobulin and etiological treatments, 3 patients with platelets < 30×109/L received platelets at the same time; 8 patients recovered and 2 patients gave up treatment; 5 children gave up treatment due to basic diseases (including 2 patients with severe thrombocytopenia). One case died of septic shock. Conclusion　Infection is the main cause of late-onset thrombocytopenia in very low birth weight infants, while placental dysfunction is the main cause of earlyonset of thrombocytopenia. Most of the symptoms are mild, and severe patients can also get well after treatment.

The children value of double-ballon euteroscopy in pediatric patients

GOU Jing, ZHOU Shaoming, WANG Zhaoxia, et al

Journal of Clinical Pediatrics. 2019, 37(11): 869. doi:10.3969/j.issn.1000-3606.2019.11.018

Abstract ( 285 )

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Objective　To evaluate the clinical value of double-balloon enteroscopy in pediatric patients. Method　Data of 44 patients who underwent double-balloon enteroscopy in our hospital from July 2016 to April 2019 was retrospectively analyzed. Results　The average age of 44 patients was 9.64±3.36 years (the youngest age 2 years and 9 months, the lowest body weight 12.6 kg). Among 44 patients, 25 patients for obscure gastrointestinal bleeding, 16 patients for abdominal pain, 2 patients for diarrhea, and 1 patient for Peutz-Jegher's syndrome.The overall diagnostic yield of 43 patients was 58.14%(25/43). There were 7 patients under the age of 6 (7/44, 15.91%), 4 patients were detected (4/7, 57.14%). The diagnostic yield for obscure gastrointestinal bleeding was 64% (16/25), abdominal pain 50% (8/16) and diarrhea 50%(1/2). The main diseases detected including 14 of ileal diverticulum, 4 of Crohn's disease, and 3 cases of non-specific inflammation of the small intestine (congestion, erosion, ulcer). All patients had no complications such as perforation, severe bleeding, and anesthesia. Conclusion　Doubleballoon enteroscopy is a safe and feasible endoscopic procedure for pediatric patients.

Research progress of molecular diagnosis in pediatric tuberculosis

WANG Jiangxia

Journal of Clinical Pediatrics. 2019, 37(11): 872. doi:10.3969/j.issn.1000-3606.2019.11.019

Abstract ( 225 )

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　Tuberculosis is a chronic infectious disease caused by Mycobacterium tuberculosis. Tuberculosis lesions in children often can not cause typical clinical symptoms and imaging manifestations because of the low content of Mycobacterium tuberculosis. And for the detection of Mycobacterium tuberculosis based on Roche culture method, as the "gold standard", has long detection time and low positive rate which made it difficult for the sick children to get timely, accurate diagnosis and treatment. The primary problem for tuberculosis in children was lacking of quick and accurate diagnosis and treatment at present. Molecular diagnostic technology has been widely used and developed because of its remarkable advantages, such as rapidity, accuracy, high efficiency, easy operation etc. This article reviews the latest progress in molecular diagnostic techniques for tuberculosis in children in recent years.

Clinical research progress of oral immunotherapy for food allergy

MO Xiaoyan, SHAO Jie

Journal of Clinical Pediatrics. 2019, 37(11): 877. doi:10.3969/j.issn.1000-3606.2019.11.020

Abstract ( 197 )

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