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06 July 2020, Volume 35 Issue 7 Previous Issue    Next Issue

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Paying attention to the inherited metabolic disorders which are easily misdiagnosed CHEN Zhe-hui，YANG Yan-ling 2020, 35(7): 497-501.  DOI: 10.19538/j.ek2020070601 Abstract ( )   There are various kinds of inherited metabolic disorders and the manifestations are non-specific，diversified and individualized. They can mimic different diseases and are easily misdiagnosed or with missed diagnosis. Many organs can be impaired by inherited metabolic disorders，resulting in neurological or psychiatric diseases，cardiovascular diseases，renal diseases，hepatic diseases，hematologic diseases，skin diseases and bone diseases. The clinical diagnosis is difficult and relies on special biochemical tests and genetic analysis. Therefore，for the patients with a condition whose clinical symptoms and laboratory examinations cannot be explained or those who get an unsatisfied treatment outcome，a further investigation into the causes is needed to reduce the misdiagnosis，so that precise treatment can be performed and prognosis be improved.

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Paying attention to the endocrine disorders easily misdiagnosed GONG Chun-xiu，LI Le-le 2020, 35(7): 502-505.  DOI: 10.19538/j.ek2020070602 Abstract ( )   Endocrine disorders often involve dysfunction of multiple systemic organs. The initial visits of patients can be distributed in different departments of the hospital because of the nonspecific clinical manifestation. So it is very hard to make diagnosis and misdiagnosis is likely to occur. However，some endocrine disorders are traceable，such as diabetes ketoacidosis，hypothyroidism and adrenal insufficiency，and misdiagnosis can be reduced and avoided by more learning，investigation，experience accumulation on daily work. Thorough inquiry of the case medical history，careful physical examination，and combination with laboratory and imaging results can help to decrease the misdiagnosis rate.

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Epilepsy as the main manifestation of inherited metabolic diseases MO Ruo，YANG Yan-ling，ZHANG Yao 2020, 35(7): 506-510.  DOI: 10.19538/j.ek2020070603 Abstract ( )   Inherited metabolic diseases are a group of single-gene genetic diseases characterized by abnormal biochemical metabolism. Seizures are one of the common clinical manifestations of inherited metabolic diseases. More than 5% of the patients with epilepsy have metabolic etiology. These may include metabolic errors in small molecules involved in amino acid and glucose metabolism，metal metabolism，vitamin metabolism，neurotransmitters-related metabolic disorders，or organelles diseases in mitochondria and lysosomes，which present with seizures or epileptic syndrome. Because these patients have no specific clinical manifestations，biochemical and genetic analysis are the main tools for diagnosis. Here we review the clinical features auxiliary examinations and treatment of metabolic epilepsy. Some cases of metabolic epilepsy may have improved symptoms and better prognosis after treatment.

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Autism spectrum disorders caused by carnitine deficiency LIU Yu-peng，QIN Jiong 2020, 35(7): 510-513.  DOI: 10.19538/j.ek2020070604 Abstract ( )   Autism spectrum disorder is a developmental disability that can cause significant social，communication and behavioral challenges. There are many genetic or  non-genetic causes for multiple types of autism spectrum disorders. Levocarnitine is a water soluble vitamin with the structure similar to amino acid. It plays essential roles in the metabolism with the main function being the transport of long-chain fatty acids from the cytosol to the mitochondrial matrix for β-oxidation. Carnitine deficiency can lead to mental and behavior problems such as autism spectrum disorders. In some patients，multiple organs such as heart，skeletal muscle，brain and liver were injured. Sudden death occurred in severe cases. Carnitine homeostasis normally is maintained through dietary intake，endogenous synthesis，renal excretion and reabsorption. The endogenous synthesis of levocarnitine is completed by four-step enzymatic reactions in mitochondria. Trimethyllysine hydroxylase is a key enzyme in carnitine synthesis. Trimethyllysine hydroxylase deficiency is an X-linked inherited disorder，which causes carnitine synthesis disorder. It is one of the causes of autism spectrum disorders. Early diagnosis and levocarnitine supplementation are the keys to improve the prognosis of patients with autism caused by trimethyllysine hydroxylase deficiency.

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Congenital hyperinsulinemia misdiagnosed as epilepsy ZHANG Ya-nan，ZHANG Hui-feng 2020, 35(7): 514-517.  DOI: 10.19538/j.ek2020070605 Abstract ( )   Hypoglycemic convulsion is often the first clinical manifestation of congenital hyperinsulinemia which is often misdiagnosed as epilepsy. Recurrent persistent hypoglycemia may result in severe neurological sequelae，such as secondary epilepsy or developmental delay. Diagnosis is based on the finding of inappropriate relative hyperinsulinemia in the context of hypoglycemia. A genetic diagnosis was made for only about 50% patients. Euglycemia can be  achieved by the first line treatment-diazoxide in most patient. Partial pancreatectomy should be considered when blood glucose cannot be stabilized by nutritional support and diazoxide.

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Metabolic and genetic disorders mimicking cerebral palsy DING Chang-hong，DAI Li-fang 2020, 35(7): 518-521.  DOI: 10.19538/j.ek2020070606 Abstract ( )   Cerebral palsy（CP） describes a group of permanent disorders of the development of movement and posture which are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain，resulting in activity limitation. According to the most predominant pattern of motor disturbance，the CP is grouped as spastic，dyskinetic ataxic or mixed. The clinical presentation of many metabolic and genetic conditions can mimic CP. Misdiagnosis is likely to occur in clinical work，and the treatment may be delayed. The aim of this review is to help pediatricians recognize the congenital genetic and metabolic disorders that resemble CP. The accurate diagnosis of genetic and metabolic disorders is the basis for earlier treatment and better prognosis，which also prevents disability and provides evidences for genetic counseling and prenatal diagnosis.

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Congenital metabolic diseases with cardiovascular diseases YAN Hui 2020, 35(7): 522-525.  DOI: 10.19538/j.ek2020070607 Abstract ( )   Congenital metabolic diseases are not uncommon in cardiovascular disease. When children are first diagnosed with cardiomyopathy，arrhythmia，abnormal myocardial enzymes，valve disease，congenital heart disease，pulmonary hypertension，blood pressure and so on，it is necessary to identify whether they are with some inborn metabolic diseases. The heart disease of these children often has certain characteristics，progresses more rapidly，or is with multiple organ system involvement. In the treatment of cardiovascular diseases，effective treatment for inborn metabolic diseases is the key to improving the prognosis of the disease.

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Fatty acid oxidation disorders presented as fatty liver CHEN Xiao-hong 2020, 35(7): 525-528.  DOI: 10.19538/j.ek2020070608 Abstract ( )   Fatty acid oxidation disorders（FAODs）are a group of clinically and biochemically heterogeneous disorders. The clinical spectrum of signs and symptoms ranges from mild to severe，including fatigue，hepatomegaly，fatty liver，myopathy，cardiomyopathy，encephalopathy，and sudden death. The pathological background for the clinical problems includes inadequate energy supply secondary to the enzymatic dificiency，and accumulation of lipid and toxic metabolites. Various therapeutic approaches have been tried，including carnitine supplementation，substitution of disease-specific energy substrates，and supply of adequate energy. This paper introduces the major types of FAODs which usually presents as fatty liver. Emphasis will be on primary carnitine deficiency（PCD）and multiple acyl-coenzyme A dehydrogenase deficiency（MADD）. Early intervention，ongoing follow-up and education of the patient are important to prevent disease morbidity and sudden death.

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Genetic metabolic liver disease easily misdiagnosed as hepatitis ZHU Shi-shu， DONG Yi 2020, 35(7): 528-531.  DOI: 10.19538/j.ek2020070609 Abstract ( )   Genetic metabolic liver disease is a rare disease with many types and common populations. Early clinical manifestations are similar to those of hepatitis and are without specificity. Routine examination can hardly provide a confirmed diagnosis and is likely to lead to misdiagnosis. Therefore，in clinical practice，liver diseases of unknown causes should be identified early，special examination should be conducted as early as possible，and early diagnosis and early treatment should be made to avoid the progression of liver diseases.

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Testicular adrenal rest tumor easily misdiagnosed as testicular tumors LI Yan-hong 2020, 35(7): 532-535.  DOI: 10.19538/j.ek2020070610 Abstract ( )   Testicular adrenal rest tumor（TART） is a kind of benign testicular lesions derived from excessive proliferation of ectopic adrenal cells，and it is one of the common complications in male congenital adrenal hyperplasia（CAH） pateints. Most TART are detected in elderly boys or adolescents，especially in patients who have poor controls of the CAH conditions. Testicular mass is the most common clinical manifestation. The differentiation from other testicualr tumors mainly depends on the CAH history， locations of the mass， findings of scrotal ultrasonography， serum steroids detection and pathology. TART is one of the reasons for gonadal dysfunction and infertility in male CAH patients， and early diagnosis and treatment can prevent the irreversible damage of testis.

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Primary hypothyroidism misdiagnosed as pituitary tumor to be operated on LI Gui-mei， MA Xue， ZHANG Shu-le， et al 2020, 35(7): 536-539.  DOI: 10.19538/j.ek2020070611 Abstract ( )   MRI shows that sellar mass or pituitary space occupying lesions are common in patients with craniopharyngioma，intracranial germ cell tumor，pituitary adenoma and pituitary pathological hyperplasia. The imaging of craniopharyngioma and germinoma is easy to differentiate from the pituitary pathological hyperplasia. However， it is difficult to distinguish pituitary tumor from pituitary pathological hyperplasia caused by primary hypothyroidism on imaging， and the treatment methods of them are quite different. The former usually needs surgical treatment， while for the latter only oral thyroxine is needed to make the pituitary return to normal. But if the latter is misdiagnosed as pituitary tumor and is operated on， the consequences will be serious. In this paper， we will elaborate how to diagnose and differentiate sellar mass clearly through clinical manifestations， laboratory examination and therapeutic MR response by review of literature， so that it can be avoided to misdiagnose primary hypothyroidism as pituitary adenoma.

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Clinical and genetic analysis of twenty-one Chinese children with dopa-responsive dystonia due to GCH1 gene variation DAI Li-fang，DING Chang-hong，FANG Fang，et al 2020, 35(7): 540-546.  DOI: 10.19538/j.ek2020070612 Abstract ( )   Objective　To summarize the clinical and genetic features of dopa-responsive dystonia due to GCH1 gene variation，in order to improve the understanding of the disease and perform diagnosis and treatment to change prognosis. Methods　The clinical and genetic data of twenty-one children with dopa-responsive dystonia due to GCH1 gene variation，diagnosed in the Department of Neurology of Beijing Children’s Hospital，Capital Medical University from May 2011 to January 2020，were retrospectively collected and analyzed. Follow-up was also made. Results　There were seventeen females and four males. The age at onset ranged from 0 to 8 years，and the course of disease at diagnosis was from 0.1 to 7.6 years. One patient developed the disease after infection and twenty without cause. There were 18 cases of typical dopa-responsive dystonia and 3 atypical cases. The initial symptoms were tiptoeing（18 cases），motor development retardation or degression with limb weakness（3 cases），ptosis（2 cases），fremitus（3 cases）. The hypermyotonia spread to trunk（3 cases）and to upper limbs（9 cases）. Other clinical features included decreased movement（5 cases），decreased facial expression（3 cases），fremitus（7 cases），tiptoeing（19 cases），talipes equinovarus（9 cases），ptosis（3 cases），oculogyric crisis（1 case），salivation（3 cases），dysphagia（2 cases），dysarthria（2 cases），profuse sweating（4 cases），sleep increase（2 cases） and apathetic mood（1 case）. Clinical symptoms were fluctuating，including diurnal fluctuation in 18 cases，infection aggravation in 7 cases and fatigue aggravation in 20 cases. Left limbs were more severe in 12 patients. Right limbs were more severe in 3 patients. Lower limbs were more severe in 18 patients. There were 4 cases of motor development retardation and one case of mental retardation before disease onset. Three patients had family history. All patients received levodopa treatment，and the symptoms disappeared or were significantly relieved. Two patients had side effects of dyskinesia. One patient was not followed up，and twenty patients were followed up between 11 months and 16 years 7 months old until January 2020. The treatment course of follow-up was from 0.1 to 8.6 years. The symptoms almost disappeared in 16 patients and improved greatly in 4 patients. Twenty-one GCH1 gene variation were found，among which ten were novel variations（c.304A＞T，c.257C＞T，c.277A＞T，c.478A＞T，c.481C＞T，exon 1 duplication，exon 2+3 deletion，c.726_727insC，c.51delG，c.151_166del）. Conclusion　Dopa-responsive dystonia due to GCH1 gene variation is a treatable inherited metabolic disorder，the onset of which is in infancy or childhood. The onset may be as early as in neonatal period. The clinical manifestations are mainly typical. Typical case can have atypical features. It is easily misdiagnosed. Early identification should be strengthened. The non-coding region variation and large deletion or duplication variation of GCH1 gene should be paid attention to in DRD patients.

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Clinical characteristics of thirty male childhood-onset systemic lupus erythematosus ZHANG Yu，TANG Xue-mei，WANG Li，et al 2020, 35(7): 547-551.  DOI: 10.19538/j.ek2020070613 Abstract ( )   Objective　To investigate the clinical characteristics and prognosis of male childhood-onset systemic lupus erythematosus（cSLE）. Methods　Clinical data and prognosis of male childhoond-onset SLE（cSLE） who were hospitalized in our hospital from January 2011 to October 2016 were retrospectively analyzed and compared with those of female cSLE diagnosed in our hospital. Results　There were 30 cases of male cSLE and 129 cases of female patients. The median follow-up time was 45 months. The average age of male cSLE were（11.57±2.78） years. Hepatosplenomegaly was the most common initial manifestation（70.0%），followed by mucocutaneous involvement，fever，lymphadenopathy，haemocytopenia and renal involvement，the incidence being higher than 50%. The incidences of hepatosplenomegaly，serositis and oral ulcer in male cSLE were higher than those in female cSLE（P＜0.05）. Thirteen male cSLE completed renal biopsy，and 76.9% of them had Class IV lupus nephritis，and there was no significant difference in renal histopathology between male and female cSLE（P＞0.05）. The incidence of stage Ⅲ or above chronic kidney disease in male cSLE was higher than that in female cSLE（P＜0.05）. Two cases of male cSLE died and the death cause was renal failure. There were no significant differences in survival rates incidence of complications between male cSLE and female cSLE（P＞0.05）. Conclusion　Hepatosplenomegaly，serositis and oral ulcer are more common in male cSLE than in female cSLE. Male cSLE patients are more likely to suffer from severe kidney damage in the long term，which is the main cause of death in male cSLE.

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Expression and clinical significance of Yes-related protein in pediatric ulcerative colitis YE Xiao-lin，WU Jie，SUN Mei 2020, 35(7): 552-556.  DOI: 10.19538/j.ek2020070614 Abstract ( )   Objective　To study the expression and clinical significance of Yes-associated protein（YAP） in ulcerative colitis（UC）. Methods　Totally 30 patients with UC were included as research subjects，who were treated at the department of pediatric gastroenterology of Shengjing Hospital affiliated to China Medical University between July 1，2013 and December 31，2019. Twenty children with normal colonoscopic results were included as controls. Clinical data of patients were recorded，and disease activity was assessed using Pediatric Ulcerative Colitis Activity Index（PUCAI）. Paraffin specimen of endoscopic biopsy were collected，and the difference in YAP expression of intestinal mucosa between the two groups was observed by immunohistochemical staining. Results　YAP in normal colorectal tissue with positive expression were at the base of colonic crypts，both in the cell nucleus and cytoplasm，the positive expression rate being 85%（17/20）；the expression of YAP in active UC patients was decreased，mainly in the cytoplasm，the positive expression rate being 36.7%（11/30），and there was a statistically significant difference（P＜0.01）；the positive expression rate of YAP in remission UC patients was 70%（14/20），significantly increased compared with the active UC patients，with a statistically significant difference（P＜0.05）. There was no significant correlation between the difference in YAP protein expression and UC patients’ age，gender or lesion（P＞0.05），with a significant correlation to disease activity. YAP expression correlated negatively with PUCAI. With the aggravation of disease，the positive expression of YAP was decreased obviously，with a statistically significant difference（R＝-0.425，P＜0.05）. Conclusion　YAP can potentially be used as a biomarker to assess disease activity and mucosal healing in UC patients.

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Phenotype and prognosis study of fifteen patients with late-onset Dravet syndrome XU Xiao-jing*，YANG Ying，NIU Xue-yang，et al 2020, 35(7): 557-561.  DOI: 10.19538/j.ek2020070615 Abstract ( )   Objective　To summarize the clinical features in late-onset Dravet syndrome patients. Methods　The clinical data and peripheral blood DNA of fever sensitive related epilepsy patients and their parents were collected from June 2005 to May 2019 in Peking University Fisrt Hospital. SCN1A gene mutation was screened. The clinical manifestations， SCN1A gene mutation and prognosis were analyzed in the patients with onset age over 1 year old according with Dravet syndrome. Results　A total of 15 patients were included. The onset age was from 1 year and 1 month to 3 years. Fifteen patients were discovered carrying SCN1A mutations，including missense mutations in 11 cases（11/15，73.3%），nonsense mutation in 2 cases，deletion mutation in 1 case，and splice site mutation in 1 case. They all have multiple seizure types，including generalized tonic clonic seizures（GTCS） in 15 cases，focal seizures in 13 cases（including unilateral clonic seizures in 6 cases），atypical absences in 8 cases，and myoclonic seizures in 5 cases.Ten patients（10/15，66.7%） suffered from attacks of GTCS lasting more than 5 min，including 5 patients with a history of staus epilepticus. The EEG of 13 cases showed epileptic discharge in the early stage. The last follow-up age of 15 patients was from 3 years and 1 month to 16 years and 11 months（the median follow-up age was 10 years and 9 months），and 2 patients（2/15，13.3%） have been seizure-free for more than 1 year（9 years and 15 years，respectively）. Conclusion　The onset age of a few patients with phenotypic features of Dravet syndrome are beyond 1 year old，who can be diagnosed with late-onset Dravet syndrome. Compared with the Dravet syndrome patients with the onset age before 1 year，in the late-onset patients，SCN1A mutations are mainly missense，and most of their interictal EEG has epileptiform discharges at the beginning of disease；the seizure control is relatively good.

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Clinical characteristics of E. coli meningitis in fifty-seven cases MI Yu-mei，YUAN Tian-ming，CHEN Li-hua，et al 2020, 35(7): 562-566.  DOI: 10.19538/j.ek2020070616 Abstract ( )   Objective　To retrospectively study the clinical characteristics of bacterial meningitis in children caused by E.coli，and to provide evidence for clinical treatment and prediction of prognosis. Methods　Totally 57 children with bacterial meningitis admitted to Children’s Hospital affiliated to Zhejiang University from January 2013 to December 2017 were collected. E.coli was isolated in cerebrospinal fluid（CSF） or（and） blood culture. Summarize the disease progression，clinical manifestations and features of CSF and imaging，and analyze the difference between without-complicat and with-complication E.coli meningitis in children. Results　Among 57 children，at the onset，28 children had diarrhea（49.1%），7 children had urinary tract infection（12.3%），1 child had perianal abscess（1.7%） and 1 child had intestinal perforation（1.7%）；25 children were cured without complications（43.9%），21 children（36.8%） survived with complications. Complications included subdural effusion/pus，hydrocephalus，ventriculitis，encephalomalacia and hearing impairment. All the dead children had severe intracranial lesions，including hydrocephalus，ventriculitis and massive encephalomalacia. Meanwhile，one dead child also had hearing impairment. Among the surviving children，comparison was made between with-complications group and without-complications group，and there were statistical differences between the two groups in these aspects，such as the rate of seizure（χ2＝4.436，P＜0.05），the rate of using effective antibiotics in 48 hours after onset（χ2＝3.946，P＜0.05），total periods of fever（Z＝-2.941，P＜0.05）and the levels of micro total protein（MTP）（Z＝-2.026，P＜0.05），glucose concentration（t＝2.124，P＜0.05）and lactate dehydrogenase（LDH）（Z＝-2.263，P＜0.05）in the CSF in the initial course of disease. Comparison between relapse group and group without complications and relapse，there were statistical differences between the two groups in these aspects such as the rate of premature［P＜0.05（Fisher test）］，the rate of ESBL positive（χ2＝4.142，P＜0.05），and the levels of glucose concentration（t＝2.801，P＜0.05）、LDH（Z＝-2.227，P＜0.05）. Comparison the death and survival group，there were statistical differences between the two groups in these aspects such as the rate of premature（χ2＝6.468，P＜0.05），the rate of seizure（χ2＝4.998，P＜0.05）and the levels of white blood cell（Z＝-2.201, P＜0.05）、 MTP（Z＝-2.664，P＜0.05）、glucose concentration（t＝9.812，P＜0.05）、LDH（Z＝-3.830，P＜0.05）. Conclusion　E.coli meningitis mostly occurs in children younger than 3 months. Premature delivery，seizure，when to start effective antibiotics treatment，duration of fever，ESBLs and the levels of MTP，glucose and LDH in CSF can be used as important prognostic indicators of E.coli meningitis.

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Advances in the application of screening tools for nutritional risk in children WU Li-juan，LI Zhong-yue 2020, 35(7): 567-570.  DOI: 10.19538/j.ek2020070617 Abstract ( )

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One case report of PCDH12 gene mutation-related epilepsy combined with severe development retardation，microcephalia and intracranial calcification WANG Long-fei，HU Chun-hui，WANG Hua 2020, 35(7): 571-573.  DOI: 10.19538/j.ek2020070618 Abstract ( )

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Wolf-Hirschhorn syndrome in one case and the literature review WANG Meng-meng, WANG Ju-li, CAO Hong-tao, et al 2020, 35(7): 574-576.  DOI: 10.19538/j.ek2020070619 Abstract ( )