Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neon...Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neonatal period, and in 80% to 85% of cases, the diagnosis is made before the age of 2 years following respiratory infections. Case Report: We report a case of MAKC diagnosed in the neonatal period. The diagnosis was based on clinical, radiological and histological elements. Our patient underwent surgical resection. Histological examination confirmed the diagnosis of MAKC without any sign of malignancy. The postoperative evolution was good. Conclusion: Clinicians and pathologists should recognize the early discovery of MAKC in neonatal age. The clinical diagnosis strongly guided by the radiological approach is confirmed by the pathological anatomy insofar as the therapeutic sanction is surgical in the majority of the cases.展开更多
Congenital disorders of glycosylation (CDGs) are group group of genetic defects in the assembly and processing pathway of protein glycosylation, which cause a wide range of multi system dysfunction. This paper describ...Congenital disorders of glycosylation (CDGs) are group group of genetic defects in the assembly and processing pathway of protein glycosylation, which cause a wide range of multi system dysfunction. This paper describes the anesthetic management of 6 year old boy with CDG type I-x for upper airway surgery. We used a sevoflurane-nitrous oxide-remifentanil regime with no complications and good results. As for now, the literature lacks reports of anesthetic management of children with CDG I-x, and this report may provide clinicians an option for safe anesthetic management.展开更多
We report the case of a 10-year-old girl with congenital complete heterochromia iridis and segmental pigmentation disorder in its hyperpigmented form. We have found no publication that mentions the combination of thes...We report the case of a 10-year-old girl with congenital complete heterochromia iridis and segmental pigmentation disorder in its hyperpigmented form. We have found no publication that mentions the combination of these 2 disorders.展开更多
BACKGROUND The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases(V-ATPase)is located on chromosome Xq28.Defects in certain subunits or accessory subunits of the V-ATPase...BACKGROUND The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases(V-ATPase)is located on chromosome Xq28.Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disorders of glycosylation(CDG).CDG is a group of metabolic disorders in which defective protein and lipid glycosylation processes affect multiple tissues and organs.Therefore,the clinical presentation of patients with ATP6AP1-CDG varies widely.In this report,we present a case of ATP6AP1-CDG in a Chinese infant,with clinical features and genotype.CASE SUMMARY An 8-mo-old boy was admitted to our hospital because unexplained hepatosplenomegaly and elevated transaminases that had been noted while he was being treated for a cough at a local hospital.A post-admission examination at our hospital revealed abnormalities in the infant’s liver,brain,and immune system.Trio-based whole exome gene analysis identified a hemizygous pathogenic mutation c.1036G>A(p.E346K)in exon 9 of the ATP6AP1 gene.This variant of the ATP6AP1 gene has not been reported in East Asian countries until now.CONCLUSION Based on the infant’s clinical manifestations and the results of genetic detection,he was clearly diagnosed with ATP6AP1-CDG.The clinical manifestations of children with CDG vary widely.Genetic testing analysis helps in the clinical diagnosis of children with CDG.展开更多
Congenital hepatic fibrosis(CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts.It is one of the fib...Congenital hepatic fibrosis(CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts.It is one of the fibropolycystic diseases,which also include Caroli disease,autosomal dominant polycystic kidney disease,and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis,portal hypertension,and renal cystic disease.CHF is known to occur in association with a range of both inherited and non-inherited disorders,with multiorgan involvement,as a result of ductal plate malformation.Because of the similarities in the clinical picture,it is necessary to differentiate CHF from idiopathic portal hypertension and early liver cirrhosis,for which a liver biopsy is essential. Radiological tests are important for recognizing involvement of other organ systems.With regards to our experience at Hacettepe University,a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF.Presentation with Caroli syndrome was the most common diagnosis,with all such patients presenting with symptoms of recurrentcholangitis and symptoms related to portal hypertension. Although portal fibrosis is known to contribute to the ensuing portal hypertension,it is our belief that portal vein cavernous transformation also plays an important role in its pathogenesis.In all patients with CHF portal vein morphology should be evaluated by all means since portal vein involvement results in more severe and complicated portal hypertension.Other associations include the Joubert and Bardet-Biedl syndromes.展开更多
AIM： To evaluate the long-term outcome of viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. METHODS： This is a retrospective study. Forty-two eyes of 26 p...AIM： To evaluate the long-term outcome of viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. METHODS： This is a retrospective study. Forty-two eyes of 26 patients with primary congenital glaucoma were enrolled, Intraocular pressure （lOP）, corneal diameter （mm） and cup/disc （C/D） were measured before and after the surgery respectively. Follow-up period was 30mo. RESULTS： The mean preoperative lOP was 30.6：1：7.35 mm Hg. Of the 42 eyes, 2 eyes were required conversion to trabeculectomy for the absence of Schlemm＇s canal. Of remained 40 eyes, 38 eyes （95%） achieved successful lOP control. The average postoperative lOP was 11.69±4.18 mm Hg at 12mo. The mean reduction was 18.91 mm Hg （P〈0.00Ol）. Eighteen （75%） eyes presented a reduction in corneal diameter, and 25 （62.5%） eyes presented a C/D ratio reversal after the surgery. There was no serious complication in any patients over the follow-up period. CONCLUSION： Viscocanalostomy combined with trabeculotomy and mitomycin C is useful in the management of primary congenital glaucoma,展开更多
AIM: To investigate the behavioral and psychological disorders and the prevalence of parent ratings of attention deficit hyperactivity disorder(ADHD) symptoms among children with bilateral congenital cataracts(CCs). M...AIM: To investigate the behavioral and psychological disorders and the prevalence of parent ratings of attention deficit hyperactivity disorder(ADHD) symptoms among children with bilateral congenital cataracts(CCs). METHODS: This cross-sectional study investigated children with bilateral CC aged 3-8 y(CC group) using Conners’ Parent Rating Scale-48(CPRS-48) from July to December 2016. The abnormal rates of psychological symptoms in CC children and normal vision(NV) children were compared using the Chi-square test. The scores of CC children were compared with those of NV children and the Chinese urban norm using the independent samples t-test and one-sample t-test, respectively. RESULTS: A total of 262 valid questionnaires were collected. The ratio of CC children to NV children was 119:143. The overall rate of psychological symptoms in CC children was 2.28 times higher than that in NV children(46.22% vs 20.28%, Pearson’s χ2=20.062;P<0.001). CC children showed higher scores for conduct problems, learning problems, impulsiveness/hyperactivity, anxiety, and hyperactivity index than NV children and the Chinese urban norm, particularly between the ages of 3 and 5 y. Furthermore, male children aged between 6 and 8 y showed a higher impulsive/hyperactive score than females of the same age(t=6.083, P<0.001). CONCLUSION: Children with bilateral CCs have a higher rate of ADHD symptoms than children with NV. This study provides clinical evidence that screening for psychological symptoms and particularly for ADHD symptoms in children with bilateral CC are recommended for an early diagnosis and timely treatment.展开更多
Introduction:?Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency ...Introduction:?Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency is characterized by a cortisol deficiency and an excess of androgens, with or without aldosterone deficiency. In our countries, in the absence of neonatal screening, the diagnosis is most often late leading to life-threatening complications. The aim of this study was to describe the diagnostic features of CAH at the Albert Royer National Children’s Hospital (ARNCH) in Dakar.?Patients and method:?We conducted a retrospective, descriptive study carried out at the pediatric endocrinology department of ARNCH from 2015 to 2019. All children aged under 15 with a form of CAH were included. Socio-demographic data, family history, clinical and biochemical data at presentation were collected. Patients were noted as presenting with Disorder of Sexual Development (DSD) with dehydration, DSD without dehydration, dehydration without DSD, precocious puberty. The Prader’s scale was used to determine the degree of external virilization. These data were entered and analyzed with Epi Info version 7.2.?Results:?A total of 32 patients were included, representing 74.41% of the causes of disorder of sexual development (DSD) and 84.21% of the causes of adrenal insufficiency. These were 27 girls (84.37%) and 5 boys (15.63%). The mean age was 19 ± 34.6 months. DSD was the main finding (87.5%). It was associated with dehydration in 22 cases (68.75%). 21-hydroxylase deficiency represented 93.75% of the cases with salt wasting in 73.33% of the cases.?Conclusion:?The diagnosis of CAH was delayed leading to life-threatening adrenal crises. In the absence of neonatal screening for CAH in Senegal, there is a need to train healthcare workers to recognize neonates with DSD early and refer them timeously for specialist care.展开更多
Objective To investigate the corrective results of congenital scoliosis with type II split spinal cord malformation.Methods By reviewing the medical records and roentgenograms of congenital scoliosis patients with typ...Objective To investigate the corrective results of congenital scoliosis with type II split spinal cord malformation.Methods By reviewing the medical records and roentgenograms of congenital scoliosis patients with type II split spinal cord malformation that underwent corrective surgery, septum location and length, curve type, coronal and sagittal Cobb’s angles, apical vertebral rotation and translation, and trunk shift were measured and analyzed.Results A total of 23 congenital scoliosis patients with type II split spinal cord malformation were studied, 6 cases were due to failure of segmentation, 8 cases due to failure of formation, and the remaining 9 cases due to mixed defects.The fibrous septums were located in the thoracic spine in 8 patients, lumbar spine in 4 patients, thoracic and lumbar spine in 10 patients, and from cervical to lumbar spine in 1 patient.The septum extended an average of 4.9 segments.Corrective surgeries included anterior correction with instrumentation in 2 patients, posterior correction with instrumentation in 11 patients, anterior release and posterior correction with instrumentation in 6 patients, anterior and posterior resection of the hemivertebra and posterior correction with instrumentation in 4 patients.The pre- and postoperative coronal Cobb’s angles, apical vertebral translations, apical vertebral rotations, trunk shifts were 61.9° and 32.5°(P<0.001), 48.9 mm and 31.5 mm (P<0.001), 1.2 and 1.1, 12.7 mm and 8.2 mm, respectively.The average correction rate of coronal Cobbs angle was 47.5%.The sagittal balance was also well improved.The fibrous septums were all left in situ. There was no neurological complication.Conclusion For congenital scoliosis with type II split spinal cord malformation, positive correction results with no neurological complication may be obtained without resection of the fibrous septum.展开更多
Background:Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or mortality.Surgical outcomes and postoperative courses following congenital h...Background:Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or mortality.Surgical outcomes and postoperative courses following congenital heart surgery in patients with Kabuki-Syndrome(KS)have not been well studied.Objectives:The purpose of this study was to describe the postoperative courses and associated outcomes in the largest set of KS patients undergoing congenital heart surgery to date.Methods:Patients with a confirmed molecular diagnosis of KS and a diagnosis of a CHD admitted to Texas Children’s Hospital between January 1,2000 and January 1,2020 were included(n=20).Demographics and medical histories were collected from the hospitals’electronic health records.Results:Of 20 patients identified with KS and a CHD,15 required surgical correction of their congenital cardiac malformation.Median age and weight at the time of surgery was 2 months and 4.1 kg,respectively.Median duration of hospital stay was 49 days for all surgeries and 151 days for the Norwood procedure.Postoperative infections and pleural effusions were detected and treated in 45.8%and 50%of patients,respectively.There was no in-hospital mortality for any surgery.Median follow up time was 5.6 years;survival at 6 years was 94%.Conclusions:Although KS patients seem to be at increased risk for a more complicated,prolonged postoperative course than that of patients without a genetic syndrome,patients with a diagnosis of a CHD and KS do not appear to be at increased risk of mortality following congenital heart surgery.展开更多
Congenital Adrenal Hyperplasia(CAH)is an autosomal recessive condition that results from the deficiency of one of the steroidogenesis enzymes responsible for cortisol biosynthesis.In the majority of cases,CAH is cause...Congenital Adrenal Hyperplasia(CAH)is an autosomal recessive condition that results from the deficiency of one of the steroidogenesis enzymes responsible for cortisol biosynthesis.In the majority of cases,CAH is caused by 21-hydroxylase deficiency.More rarely,the deficiency concerns 11b-hydroxylase,3b-hydroxysteroid dehydrogenase,17hydroxylase,or exceptionally StAR and P450 oxydoreductase.Here,we report the case of a 3 year and 4 months old male child,born from a consanguineous marriage who presented at 15 months old with the salt-loss syndrome.Physical examination found generalized melanoderma,micropenis and bilateral cryptorchidism.Biological assessment at the time of diagnosis revealed hyponatremia,hyperkalemia,functional renal failure,hypoglycemia,low blood cortisol level,and high blood level of ACTH,suggesting primary adrenal insufficiency.The patient presented also with the abnormality of sexual differentiation with a 46 XY karyotype,testosteronemia level was low at the baseline and after HCG stimulation,pelvic ultrasound and Magnetic Raisonance Imaging(MRI)showed bilateral testicular atrophy in the inguinal position.The genetic study revealed a likely pathogenic homozygous variant in the StAR(steroidogenic acute regulatory)gene.Therapeutically,our patient was hydrated by saline solution and treated with hydrocortisone and fludrocortisone,then benefited from a surgical testicular correction marked by a favorable evolution.Although mutations in StAR gene are rare,they can be responsible for the defect in the early stage of steroidogenesis and therefore cause a deficiency in adrenal and sexual hormones biosynthesis.展开更多
磷酸甘露糖变位酶2缺乏症是最常见的N-糖基化障碍,又称磷酸甘露糖变位酶2相关性先天性糖基化障碍(phosphomannomutase 2-congenital disorder of glycosylation,PMM2-CDG),是一种常染色体隐性遗传的多系统疾病,由PMM2基因(OMIM:601785)...磷酸甘露糖变位酶2缺乏症是最常见的N-糖基化障碍,又称磷酸甘露糖变位酶2相关性先天性糖基化障碍(phosphomannomutase 2-congenital disorder of glycosylation,PMM2-CDG),是一种常染色体隐性遗传的多系统疾病,由PMM2基因(OMIM:601785)突变所致,病情轻重不一,目前尚无针对PMM2-CDG的特异疗法,早发现、早诊断、早治疗可有效延长患儿的生存年限。该文就PMM2-CDG的诊疗进展进行综述。展开更多
目的探讨磷酸甘露糖变位酶2(PMM2)-先天性糖基化障碍(congenital disorders of glycosylation,CDG)患者的临床特点和遗传学特征,为PMM2-CDG患者的早期诊断提供依据。方法对我院收治的1例PMM2-CDG患儿的临床资料进行回顾性分析,并检索中...目的探讨磷酸甘露糖变位酶2(PMM2)-先天性糖基化障碍(congenital disorders of glycosylation,CDG)患者的临床特点和遗传学特征,为PMM2-CDG患者的早期诊断提供依据。方法对我院收治的1例PMM2-CDG患儿的临床资料进行回顾性分析,并检索中国知网、万方、维普及Pubmed数据库中中国PMM2-CDG患者的临床资料进行分析。结果本例患儿临床表现为生长迟缓、大运动发育落后、皮疹、肌张力低下及肝转氨酶异常,基因组高通量测序分析发现PMM2基因存在一个纯合突变c.634A>G,来自于父母,明确诊断后给予喂养和营养指导、保肝治疗、补充甘露糖等支持疗法并定期复查。患儿6月龄后肝转氨酶恢复正常,1岁后渐呈前额宽大特殊面容,随访至2岁6个月患儿生长迟缓未改善,发育落后逐渐明显。数据库中21例中国PMM2-CDG患者多表现为生长迟缓、发育落后和肌张力低下,颅脑影像学检查可见小脑发育不良,c.395T>C(p.I132T)和c.430T>C(p.P144L)是我国患者出现较多的基因突变类型。结论PMM2-CDG是罕见的先天性代谢性疾病,为常染色体隐性遗传,患者临床出现相关症状时应进行PMM2基因检测以明确诊断。展开更多
文摘Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neonatal period, and in 80% to 85% of cases, the diagnosis is made before the age of 2 years following respiratory infections. Case Report: We report a case of MAKC diagnosed in the neonatal period. The diagnosis was based on clinical, radiological and histological elements. Our patient underwent surgical resection. Histological examination confirmed the diagnosis of MAKC without any sign of malignancy. The postoperative evolution was good. Conclusion: Clinicians and pathologists should recognize the early discovery of MAKC in neonatal age. The clinical diagnosis strongly guided by the radiological approach is confirmed by the pathological anatomy insofar as the therapeutic sanction is surgical in the majority of the cases.
文摘Congenital disorders of glycosylation (CDGs) are group group of genetic defects in the assembly and processing pathway of protein glycosylation, which cause a wide range of multi system dysfunction. This paper describes the anesthetic management of 6 year old boy with CDG type I-x for upper airway surgery. We used a sevoflurane-nitrous oxide-remifentanil regime with no complications and good results. As for now, the literature lacks reports of anesthetic management of children with CDG I-x, and this report may provide clinicians an option for safe anesthetic management.
文摘We report the case of a 10-year-old girl with congenital complete heterochromia iridis and segmental pigmentation disorder in its hyperpigmented form. We have found no publication that mentions the combination of these 2 disorders.
文摘BACKGROUND The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases(V-ATPase)is located on chromosome Xq28.Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disorders of glycosylation(CDG).CDG is a group of metabolic disorders in which defective protein and lipid glycosylation processes affect multiple tissues and organs.Therefore,the clinical presentation of patients with ATP6AP1-CDG varies widely.In this report,we present a case of ATP6AP1-CDG in a Chinese infant,with clinical features and genotype.CASE SUMMARY An 8-mo-old boy was admitted to our hospital because unexplained hepatosplenomegaly and elevated transaminases that had been noted while he was being treated for a cough at a local hospital.A post-admission examination at our hospital revealed abnormalities in the infant’s liver,brain,and immune system.Trio-based whole exome gene analysis identified a hemizygous pathogenic mutation c.1036G>A(p.E346K)in exon 9 of the ATP6AP1 gene.This variant of the ATP6AP1 gene has not been reported in East Asian countries until now.CONCLUSION Based on the infant’s clinical manifestations and the results of genetic detection,he was clearly diagnosed with ATP6AP1-CDG.The clinical manifestations of children with CDG vary widely.Genetic testing analysis helps in the clinical diagnosis of children with CDG.
文摘Congenital hepatic fibrosis(CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts.It is one of the fibropolycystic diseases,which also include Caroli disease,autosomal dominant polycystic kidney disease,and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis,portal hypertension,and renal cystic disease.CHF is known to occur in association with a range of both inherited and non-inherited disorders,with multiorgan involvement,as a result of ductal plate malformation.Because of the similarities in the clinical picture,it is necessary to differentiate CHF from idiopathic portal hypertension and early liver cirrhosis,for which a liver biopsy is essential. Radiological tests are important for recognizing involvement of other organ systems.With regards to our experience at Hacettepe University,a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF.Presentation with Caroli syndrome was the most common diagnosis,with all such patients presenting with symptoms of recurrentcholangitis and symptoms related to portal hypertension. Although portal fibrosis is known to contribute to the ensuing portal hypertension,it is our belief that portal vein cavernous transformation also plays an important role in its pathogenesis.In all patients with CHF portal vein morphology should be evaluated by all means since portal vein involvement results in more severe and complicated portal hypertension.Other associations include the Joubert and Bardet-Biedl syndromes.
文摘AIM： To evaluate the long-term outcome of viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. METHODS： This is a retrospective study. Forty-two eyes of 26 patients with primary congenital glaucoma were enrolled, Intraocular pressure （lOP）, corneal diameter （mm） and cup/disc （C/D） were measured before and after the surgery respectively. Follow-up period was 30mo. RESULTS： The mean preoperative lOP was 30.6：1：7.35 mm Hg. Of the 42 eyes, 2 eyes were required conversion to trabeculectomy for the absence of Schlemm＇s canal. Of remained 40 eyes, 38 eyes （95%） achieved successful lOP control. The average postoperative lOP was 11.69±4.18 mm Hg at 12mo. The mean reduction was 18.91 mm Hg （P〈0.00Ol）. Eighteen （75%） eyes presented a reduction in corneal diameter, and 25 （62.5%） eyes presented a C/D ratio reversal after the surgery. There was no serious complication in any patients over the follow-up period. CONCLUSION： Viscocanalostomy combined with trabeculotomy and mitomycin C is useful in the management of primary congenital glaucoma,
基金Supported by the National Natural Science Foundation of China (No.81770967 No.91546101)+4 种基金National Key R&D Program (No.2018YFC0116500)the Fundamental Research Funds for the Central Universities (No.18ykpy33 No.16ykjc28)the Youth Pearl River Scholar Funded Scheme(2016-2018)the Fundamental Research Funds of the State Key Laboratory of Ophthalmology (2018-2019)
文摘AIM: To investigate the behavioral and psychological disorders and the prevalence of parent ratings of attention deficit hyperactivity disorder(ADHD) symptoms among children with bilateral congenital cataracts(CCs). METHODS: This cross-sectional study investigated children with bilateral CC aged 3-8 y(CC group) using Conners’ Parent Rating Scale-48(CPRS-48) from July to December 2016. The abnormal rates of psychological symptoms in CC children and normal vision(NV) children were compared using the Chi-square test. The scores of CC children were compared with those of NV children and the Chinese urban norm using the independent samples t-test and one-sample t-test, respectively. RESULTS: A total of 262 valid questionnaires were collected. The ratio of CC children to NV children was 119:143. The overall rate of psychological symptoms in CC children was 2.28 times higher than that in NV children(46.22% vs 20.28%, Pearson’s χ2=20.062;P<0.001). CC children showed higher scores for conduct problems, learning problems, impulsiveness/hyperactivity, anxiety, and hyperactivity index than NV children and the Chinese urban norm, particularly between the ages of 3 and 5 y. Furthermore, male children aged between 6 and 8 y showed a higher impulsive/hyperactive score than females of the same age(t=6.083, P<0.001). CONCLUSION: Children with bilateral CCs have a higher rate of ADHD symptoms than children with NV. This study provides clinical evidence that screening for psychological symptoms and particularly for ADHD symptoms in children with bilateral CC are recommended for an early diagnosis and timely treatment.
文摘Introduction:?Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency is characterized by a cortisol deficiency and an excess of androgens, with or without aldosterone deficiency. In our countries, in the absence of neonatal screening, the diagnosis is most often late leading to life-threatening complications. The aim of this study was to describe the diagnostic features of CAH at the Albert Royer National Children’s Hospital (ARNCH) in Dakar.?Patients and method:?We conducted a retrospective, descriptive study carried out at the pediatric endocrinology department of ARNCH from 2015 to 2019. All children aged under 15 with a form of CAH were included. Socio-demographic data, family history, clinical and biochemical data at presentation were collected. Patients were noted as presenting with Disorder of Sexual Development (DSD) with dehydration, DSD without dehydration, dehydration without DSD, precocious puberty. The Prader’s scale was used to determine the degree of external virilization. These data were entered and analyzed with Epi Info version 7.2.?Results:?A total of 32 patients were included, representing 74.41% of the causes of disorder of sexual development (DSD) and 84.21% of the causes of adrenal insufficiency. These were 27 girls (84.37%) and 5 boys (15.63%). The mean age was 19 ± 34.6 months. DSD was the main finding (87.5%). It was associated with dehydration in 22 cases (68.75%). 21-hydroxylase deficiency represented 93.75% of the cases with salt wasting in 73.33% of the cases.?Conclusion:?The diagnosis of CAH was delayed leading to life-threatening adrenal crises. In the absence of neonatal screening for CAH in Senegal, there is a need to train healthcare workers to recognize neonates with DSD early and refer them timeously for specialist care.
文摘Objective To investigate the corrective results of congenital scoliosis with type II split spinal cord malformation.Methods By reviewing the medical records and roentgenograms of congenital scoliosis patients with type II split spinal cord malformation that underwent corrective surgery, septum location and length, curve type, coronal and sagittal Cobb’s angles, apical vertebral rotation and translation, and trunk shift were measured and analyzed.Results A total of 23 congenital scoliosis patients with type II split spinal cord malformation were studied, 6 cases were due to failure of segmentation, 8 cases due to failure of formation, and the remaining 9 cases due to mixed defects.The fibrous septums were located in the thoracic spine in 8 patients, lumbar spine in 4 patients, thoracic and lumbar spine in 10 patients, and from cervical to lumbar spine in 1 patient.The septum extended an average of 4.9 segments.Corrective surgeries included anterior correction with instrumentation in 2 patients, posterior correction with instrumentation in 11 patients, anterior release and posterior correction with instrumentation in 6 patients, anterior and posterior resection of the hemivertebra and posterior correction with instrumentation in 4 patients.The pre- and postoperative coronal Cobb’s angles, apical vertebral translations, apical vertebral rotations, trunk shifts were 61.9° and 32.5°(P<0.001), 48.9 mm and 31.5 mm (P<0.001), 1.2 and 1.1, 12.7 mm and 8.2 mm, respectively.The average correction rate of coronal Cobbs angle was 47.5%.The sagittal balance was also well improved.The fibrous septums were all left in situ. There was no neurological complication.Conclusion For congenital scoliosis with type II split spinal cord malformation, positive correction results with no neurological complication may be obtained without resection of the fibrous septum.
文摘Background:Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or mortality.Surgical outcomes and postoperative courses following congenital heart surgery in patients with Kabuki-Syndrome(KS)have not been well studied.Objectives:The purpose of this study was to describe the postoperative courses and associated outcomes in the largest set of KS patients undergoing congenital heart surgery to date.Methods:Patients with a confirmed molecular diagnosis of KS and a diagnosis of a CHD admitted to Texas Children’s Hospital between January 1,2000 and January 1,2020 were included(n=20).Demographics and medical histories were collected from the hospitals’electronic health records.Results:Of 20 patients identified with KS and a CHD,15 required surgical correction of their congenital cardiac malformation.Median age and weight at the time of surgery was 2 months and 4.1 kg,respectively.Median duration of hospital stay was 49 days for all surgeries and 151 days for the Norwood procedure.Postoperative infections and pleural effusions were detected and treated in 45.8%and 50%of patients,respectively.There was no in-hospital mortality for any surgery.Median follow up time was 5.6 years;survival at 6 years was 94%.Conclusions:Although KS patients seem to be at increased risk for a more complicated,prolonged postoperative course than that of patients without a genetic syndrome,patients with a diagnosis of a CHD and KS do not appear to be at increased risk of mortality following congenital heart surgery.
文摘Congenital Adrenal Hyperplasia(CAH)is an autosomal recessive condition that results from the deficiency of one of the steroidogenesis enzymes responsible for cortisol biosynthesis.In the majority of cases,CAH is caused by 21-hydroxylase deficiency.More rarely,the deficiency concerns 11b-hydroxylase,3b-hydroxysteroid dehydrogenase,17hydroxylase,or exceptionally StAR and P450 oxydoreductase.Here,we report the case of a 3 year and 4 months old male child,born from a consanguineous marriage who presented at 15 months old with the salt-loss syndrome.Physical examination found generalized melanoderma,micropenis and bilateral cryptorchidism.Biological assessment at the time of diagnosis revealed hyponatremia,hyperkalemia,functional renal failure,hypoglycemia,low blood cortisol level,and high blood level of ACTH,suggesting primary adrenal insufficiency.The patient presented also with the abnormality of sexual differentiation with a 46 XY karyotype,testosteronemia level was low at the baseline and after HCG stimulation,pelvic ultrasound and Magnetic Raisonance Imaging(MRI)showed bilateral testicular atrophy in the inguinal position.The genetic study revealed a likely pathogenic homozygous variant in the StAR(steroidogenic acute regulatory)gene.Therapeutically,our patient was hydrated by saline solution and treated with hydrocortisone and fludrocortisone,then benefited from a surgical testicular correction marked by a favorable evolution.Although mutations in StAR gene are rare,they can be responsible for the defect in the early stage of steroidogenesis and therefore cause a deficiency in adrenal and sexual hormones biosynthesis.
文摘磷酸甘露糖变位酶2缺乏症是最常见的N-糖基化障碍,又称磷酸甘露糖变位酶2相关性先天性糖基化障碍(phosphomannomutase 2-congenital disorder of glycosylation,PMM2-CDG),是一种常染色体隐性遗传的多系统疾病,由PMM2基因(OMIM:601785)突变所致,病情轻重不一,目前尚无针对PMM2-CDG的特异疗法,早发现、早诊断、早治疗可有效延长患儿的生存年限。该文就PMM2-CDG的诊疗进展进行综述。
文摘目的探讨磷酸甘露糖变位酶2(PMM2)-先天性糖基化障碍(congenital disorders of glycosylation,CDG)患者的临床特点和遗传学特征,为PMM2-CDG患者的早期诊断提供依据。方法对我院收治的1例PMM2-CDG患儿的临床资料进行回顾性分析,并检索中国知网、万方、维普及Pubmed数据库中中国PMM2-CDG患者的临床资料进行分析。结果本例患儿临床表现为生长迟缓、大运动发育落后、皮疹、肌张力低下及肝转氨酶异常,基因组高通量测序分析发现PMM2基因存在一个纯合突变c.634A>G,来自于父母,明确诊断后给予喂养和营养指导、保肝治疗、补充甘露糖等支持疗法并定期复查。患儿6月龄后肝转氨酶恢复正常,1岁后渐呈前额宽大特殊面容,随访至2岁6个月患儿生长迟缓未改善,发育落后逐渐明显。数据库中21例中国PMM2-CDG患者多表现为生长迟缓、发育落后和肌张力低下,颅脑影像学检查可见小脑发育不良,c.395T>C(p.I132T)和c.430T>C(p.P144L)是我国患者出现较多的基因突变类型。结论PMM2-CDG是罕见的先天性代谢性疾病,为常染色体隐性遗传,患者临床出现相关症状时应进行PMM2基因检测以明确诊断。
