A DiGeorge Syndrome Case Report—Challenges of Diagnosis and Management

Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although advances in genetic screening have improved diagnosis in developed countries, the condition remains underdiagnosed in developing nations such as the Republic of Moldova, where access to genetic testing and family planning services is limited. Routine prenatal screening usually includes regular ultrasounds, monitoring of blood pressure, complete blood counts, coagulation studies, glucose, urine protein, and urine culture. Current ultrasound techniques have limitations in detecting this syndrome due to variability in interpretation, and genetic testing is often performed based on clinical discretion. The ultrasound could potentially point towards a genetic problem, as in DiGeorge, if multiple cardiac malformations are spotted in utero, but most cases such as this one are diagnosed after birth while being described as totally normal on prenatal ultrasound. Purpose: This study aims to highlight the diagnostic challenges and the need for comprehensive evaluation in identifying DiGeorge syndrome, emphasizing the importance of considering the syndrome as a whole rather than focusing on isolated organ system issues. Method: We present a case report of a 6-month-old girl who, after an uneventful pregnancy and normal prenatal ultrasound, presented with cardiac insufficiency. Following extensive investigations and multiple surgical interventions, DiGeorge syndrome was diagnosed at 9 months of age. Results: The patient’s diagnosis was delayed due to the lack of prenatal markers and the reliance on separate investigations of affected organ systems. Despite several interventions aimed at managing her symptoms, the final diagnosis was made after observing the association of multiple clinical features and conducting comprehensive genetic testing. Conclusions: This case underscores the importance of a holistic approach to diagnosis, which involves a thorough patient history, integration of diverse diagnostic tests, and recognition of the syndrome’s multi-system nature. It highlights the necessity for improved diagnostic protocols and increased awareness in regions with limited access to advanced genetic testing to prevent delays in identifying DiGeorge syndrome and to facilitate timely and appropriate management.

Congenital agenesis of seminal vesicle

Congenital agenesis of the seminal vesicle （CASV） is frequently associated with congenital absence of the vas deferens （CAVD） or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology （ART） was still necessary for them to father children.

Congenital Abnormalities of Kidneys and Urinary Tract in Children at the Dakar University Hospital

Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its prevalence is underestimated in developing countries compared to developed countries. This was a cross-sectional and descriptive study between January 1st, 2015 and February 28th, 2020, carried out in the pediatric department of Aristide Le Dantec Hospital. The prevalence of CAKUT was 8.77% for all pediatric nephrologic pathologies (n = 58), the median age at diagnosis was 77.28 months and the sex ratio was 1.6. The circumstances of the discovery of CAKUT were dominated by urinary tract infection (n = 21), the antenatal diagnosis was poor (n = 13) and confusion between cysts and calyx dilation in antenatal was noted. Ultrasound was the main postnatal imaging test requested. The most common renal abnormality was kidney cysts (n = 18) (cystic kidneys and multicystic dysplastic kidney) and the most common urological abnormality was the posterior urethral valves (n = 8). Kidney failure was a pejorative factor in the evolution of these CAKUT.

Epispadias in a Child with Intact Prepuce: A Rare Congenital Abnormality

Epispadias is a rare genitourinary malformation, more so is epispadias with intact prepuce. Incidence of epispadias with intact prepuce is not known however, there are few case reports and a case series. We present a 5-year-old boy brought to our facility by his parent for circumcision. Further evaluation revealed a short penis with broad base and intact prepuce. The preputial slit was dorsally oriented. On retracting the prepuce, there was corona epispadias with wide and healthy urethral plate. No meatal stenosis or chordee noticed. Other findings were normal. He had epispadias repair. The postoperative period was uneventful. Three months after operation, the prepuce was easily retractable over the penis and the penis was cosmetically acceptable.

ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...

A completely isolated intestinal duplication cyst mimicking ovarian cyst torsion in an adult

Intestinal duplications are rare congenital anomalies that can occur anywhere in the gastrointestinal tract.They are most commonly located in the ileum and are usually detected in infancy or early childhood.Duplicated segments are usually firmly attached to and sometimes communicate with the normal gastrointestinal tract.Rarely,intestinal duplications are completely isolated,thus not associated at all with any part of the gastrointestinal tract.Such duplications do not share a common blood supply with the adjacent normal intestinal segment,unlike the usual form of duplication,but rather have a separate vascular pedicle.Reports of completely isolated duplication cysts in adults are extremely rare;we found only five such reports in the English-language medical literature.Here,we report a case of a completely isolated duplication cyst 12 cm long in an adult female.The cyst had no connection to any part of the intestinal tract and had a dedicated vascular pedicle.

Clinical characteristics of adult-type annular pancreas:A case report

BACKGROUND Annular pancreas(AP)is a rare congenital abnormal rotation of the pancreas.AP rarely occurs in adults.Pancreatic tumors and ampullary tumors are related to AP,so the discovery and treatment of AP are essential.CASE SUMMARY This study investigated the clinical manifestations,imaging features,complications,and treatment of six patients diagnosed with AP at the Department of Hepatobiliary and Pancreatic Surgery,First Hospital of Jilin University from January 2010 to June 2020.There were four males and two females,with an average age of 56.00±9.86 years old.In this study,abdominal pain and jaundice were the main clinical manifestations.Imaging can show the“crocodile jaw sign”or“double bubble sign”.CONCLUSION For patients with duodenal or biliary obstruction,physicians should give priority to AP when imaging examinations suggest that the duodenum is wrapped with tissue similar to the density of the pancreas.Symptomatic patients should actively undergo surgical treatment.

Intra-abdominal ectopic bronchogenic cyst with a mucinous neoplasm harboring a GNAS mutation: A case report

BACKGROUND Bronchogenic cysts are congenital cysts caused by abnormal sprouting from the ventral foregut during fetal life.They usually occur in the mediastinum or lung,but there are very rare cases of ectopic bronchogenic cysts that develop in the abdominal cavity.A unique intra-abdominal ectopic bronchogenic cyst with a mucinous neoplasm that was producing carcinoembryonic antigen(CEA),harboring a GNAS mutation,is reported.The present case may contribute to clarifying the mechanism of tumorigenesis and malignant transformation of ectopic bronchogenic cysts.CASE SUMMARY In 2007,a man in his 50s was incidentally found to have an intra-abdominal cystic mass,8 cm in diameter.Surgical resection was recommended,but he preferred to remain under observation.In 2020,his serum CEA level increased to 26.7 ng/mL,and abdominal computed tomography showed a 15 cm×12 cm,multifocal,cystic mass located predominantly on the lesser curvature of the stomach.Since malignancy could not be ruled out,he finally underwent surgical resection.Histologically,the cystic wall was lined by ciliated columnar epithelium,accompanied by bronchial gland-like tissue,bronchial cartilage,and smooth muscle.Part of the cyst consisted of atypical columnar epithelium with an MIB-1 index of 5%and positive for CEA.Moreover,a GNAS mutation(p.R201C)was detected in the atypical epithelium,leading to a diagnosis of an ectopic bronchogenic cyst with a low-grade mucinous neoplasm.The patient is currently undergoing outpatient follow-up without recurrence.CONCLUSION An extremely rare case of an abdominal bronchogenic cyst with a low-grade mucinous neoplasm harboring a GNAS mutation was reported.

Two congenital coronary abnormalities affecting heart function： anomalous origin of the left coronary artery from the pulmonary artery and congenital left main coronary artery atresia

Background The anomalous origin of the left coronary artery （LCA） from the pulmonary artery （ALCAPA） and congenital left main coronary artery atresia （CLMCA-A） are two kinds of very rare coronary heart diseases which affect heart function profoundly.This study aimed to retrospectively illustrate the clinical features and therapy experience of ALCAPA and CLMCA-A patients.Methods From April 1984 to July 2012,in Beijing Anzhen Hospital,23 patients were diagnosed with ALCAPA and 4 patients with CLMCA-A.We summarized the clinical data of the 27 cases and retrospectively analyzed the clinical manifestation,diagnosis,and treatments of these two kinds of congenital coronary abnormalities.Results The 23 patients （13 males and 10 females,aged ranging from 2.5 months to 65 years） identified with ALCAPA were classified into infantile type （age of onset younger than 12 months,16 cases） and adult type （age of onset older than 12 months,7 cases）.Four patients were diagnosed with CLMCA-A （three males and one female,aged ranging from 3 months to 2 years）.The main clinical manifestations of infantile-type ALCAPA and CLMCA-A include repeated respiratory tract infection,heart failure,dyspnea,feeding intolerance,diaphoresis,and failure to thrive.And these two congenital coronary abnormalities might be misdiagnosed as endocardial fibroelastosis,dilated cardiomyopathy,and acute myocardial infarction.As for the adult-type ALCAPA,cardiac murmurs and discomfort of the precordial area are the most common presentations and might be misdiagnosed as coronary heart disease,myocarditis,or patent ductus arteriosus.In ECG examination：Infantile-type ALCAPA and CLMCA-A showed abnormal Q waves with T wave inversion in leads I,avL,and V4-V6,especially in lead avL.However,ECG of adult-type ALCAPA lacked distinct features.In chest radiography：pulmonary congestion and cardiomegaly were the most common findings in infantile-type ALCAPA and CLMCA-A,while pulmonary artery segment dilation was more common in adult type.In echocardiography,the common features of infantile-type ALCAPA and CLMCA-A included left ventricular enlargement,left ventricular systolic function normal or mildly reduced in CLMCA-A or significantly reduced in ALCAPA,and moderate to large mitral valve.It was performed in 9 of 23 cases of ALCAPA and showed the origin of the dilated right coronary artery （RCA） from the right sinus of the aortic root and absence of LCA origin in angiography.After opacification of RCA,reverse flow in the LCA and pulmonary artery was visualized through coronary artery collateral circulation.Angio was performed in three of the four cases of CLMCA-A and showed left main coronary artery was a blind end,with diameter of only 1.1-2.0 mm.Treatment and prognosis：21 patients with ALCAPA had cardiac surgery and 6 of them died postoperatively.Fifteen postoperative patients survived without overt symptoms within the follow-up period of 6-166 months （median 17 months）.As for treatment of CLMCA-A,four patients took digoxin and diuretics without undergoing cardiac surgery.Their clinical symptoms improved during the close follow-ups.Conclusions ALCAPA and CLMCA-A are two rare coronary artery abnormalities that affect cardiac function in infants and children.In younger patients with cardiomegaly and heart dysfunction these two congenital coronary diseases should be noticed.

Congenital heart diseases trends in S?o Paulo State,Brazil:a national live birth data bank analysis

Background Congenital heart diseases(CHD)are the most common type of birth defects,affecting millions of newborns every year;no prevalence data are available in S?o Paulo State,Brazil's most populous state.The objective is to identify trends in prevalence and risk factors for CHD in Sao Paulo State,Brazil.Methods We developed a population-based study to estimate the CHD trend of prevalence in recent years,stratified by maternal age and geographical clusters,using all cases of CHD identified by the Live Births Information System(SINASC-Sistema de Informa??o Sobre Nascidos Vivos)from January 1,2005,to December 31,2018.We calculated the trends of prevalence,the regression coefficient(β),the annual percent change(APC),and 95%confidence interval using the Prais-Winsten regression model,with the Durbin-Watson test.Results We found 10,594 cases of CHD among 8,536,101 live births(LB),a prevalence of 12.4/10,000 LB.There was no difference in the sex distribution;they are primarily Caucasian(60.2%),75.2%born at term,and 74.4%weight>2500 g,66.9%of births were by cesarean section.S?o Paulo State presented an increasing CHD trend of prevalence(APC=18.9%).The highest CHD prevalence rate was in mothers aged≥35 years(22.2/10,000 LB).There were 12,271 specific congenital heart defects among 10,594 patients(1.16 CHD/patient).Atrial septal defect has the highest number of cases(3835),with a prevalence of 4.49/10,000 LB,corresponding to 31.3%of all CHD.Conclusion CHD had an increasing prevalence trend in recent years,being highest in S?o Paulo City and≥35-year mothers.

An infrequent cause of neonatal upper airway obstruction:Congenital nasal pyriform aperture stenosis presenting to a remote facility

Introduction:Congenital nasal pyriform aperture stenosis(CNPAS)is a rare congenital condition of structural nasal obstruction.Respiratory distress,stertor,and poor feeding are often presenting features.Case Presentation:We report a case of a newborn diagnosed with CNPAS at 3 weeks of life.The diagnosis was missed on a nasoendoscopy at day 3 of life but was realised following a facial CT when the infant presented with ongoing symptoms of upper airway obstruction.Nasal dilation was performed successfully.Conclusion:CNPAS should be considered in any neonate with upper airway obstruction.A normal nasoendoscopy does not exclude the diagnosis.

The Survey of Birth Defects Rate Based on Birth Registration System

Background：To investigate the surveillance trend of birth defects,incidence,distribution,occurrence regularity,and their relevant factors in Xi＇an City in the last 10 years for proposing control measures.Methods：The birth defects monitoring data of infants during perinatal period （28 weeks of gestation to 7 days after birth） were collected from obstetrics departments of all hospitals during 2003-2012.Microsoft Excel 2003 was used for data input,and Statistical Package for the Social Sciences version 16.0 （International Business Machines Corporation,New York,NY,USA） was used for descriptive analysis.χ^2 test,Spearman correlation and linear-by-linear association trend test were used for statistical analyses.Results：The birth defect rate declined from 9.18% in 2003 to 7.00% in 2012 （χ^2 =45.001,P 〈 0.01） with a mean value of 7.85%,which is below the Chinese national average level （χ^2 =20.451,P 〈 0.01）.The order of five most common birth defects has changed.The incidence of congenital heart disease （CHD） increased with time,particularly after 2012,it became the most frequent type （rs =0.808,P 〈 0.001）.Till then,the number of neural tube defects （NTDs） declined significantly （χ^2 =76.254,P 〈 0.01）.The average birth defects rate of 8.11% in rural areas was higher than that in urban areas （7.56%,χ^2 =7.919,P 〈 0.01） and much higher in males （8.28%） than that in females （7.18%,χ^2 =32.397,P 〈 0.0 1）.Maternal age older than 35 years （χ^2 =35.298,P 〈 0.01） is the most dangerous age bracket of birth defects than maternal age younger than 20 years （χ^2 =7.128,P 〈 0.0l）.Conclusions：A downward trend of birth defects was observed in Xi＇an City from 2003 to 2012.NTDs significantly decreased after large-scale supplemental folic acid intervention,while the incidence rate of CHD significantly increased.

Postnatal development of fetuses with a single umbilical artery:differences between malformed and non-malformed infants

Background:The presence of a single umbilical artery(SUA)is a fetal soft marker of congenital abnormalities.Among the most common related malformations,there are cardiological,nephrourological and digestive anomalies,most of which are considered to have a vascular etiology.There is an association between increased incidence of intrauterine growth retardation and adverse perinatal indicators,but whether this association is due to related anomalies or isolated SUA(SUA)is controvisal.Methods:We reviewed 96 cases of iSUA and non-isolated SUA(niSUA),diagnosed in a period of two years in a referral hospital for high-risk pregnancies.Data on prenatal explorations,including fetal ultrasonography and karyotyping,were obtained.niSUA was diagnosed when no malformations were found prenatally or in postnatal evaluation.Results:Sixty-six newborns(68.8%)had no other anomalies and 30(31.3%)presented with a variety of malformations including heart diseases,urophaties,digestive,nervous and musculoskeletal disorders,genetic abnormalities and complex malformations.Cardiological and nephrourological abnormalities were found to be the most frequent association with a SUA(both in 23.8%of malformed SUA newborns).Intrauterine growth restriction was not higher in iSUA newborns than in a normal population.Utrasound allowed optimal prenatal diagnosis in most cases.Conclusions:The prognosis of the fetus with a SUA is determined by the presence of other malformations observed by an expert sonographer.If no other findings are made,only a routine physical examination should be performed in newborns,but no other complementary examinations are required.

Osteotomy Techniques for Spinal Deformity

The aging population has led to increasing number of patients with spinal deformities.Such deformities can be congenital,idiopathic,or inflammatory in origin and can be functionally and psychologically debilitating.Osteotomies could be lifesaving procedures for some severe deformities.Currently,

Acro-dermato-ungual-lacrimal-tooth syndrome:case report

Acro-dermato-ungual-lacrimal-tooth syndrome （ADULT syndrome, OMIM 103285） is a rarely seen ectodermal dysplasia disorder first described by Propping and Zerres in 1993. ADULT syndrome is known as an autosomal dominant disorder. Only a family constellation and four independent cases were reported worldwide up to now. Here, we report a case of ADULT syndrome, which is the first case reported from China.

Berry syndrome： a rare cardiac malformation with extra-cardiac findings

Dear Editor,Berry syndrome is a rare combination of congenital cardiac malformations characterized by four abnormal features;namely,an aortopulmonary window(APW),aortic origin of the right pulmonary artery,hypoplasia or interruption of the aortic arch,with an intact ventricular septum.The disease was first reported by Berry in 1982,who estimated the incidence within the population with congenital cardiac malformations to be 0.046%(Berry et al.,1982).Until recently,

Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature

Goldenhar syndrome(oculo-auriculo-vertebral spectrum)is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia,auricular,ocular and vertebral anomalies.In many cases,this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies.Herewith,we present a case of Goldenhar syndrome in a 21-year-old male,who presented all the classical signs of this rare condition.This article also summarizes the characteristic features of patients with Goldenhar syndrome.

Hemifacial microsomia:management of the vertical ramus compartment

Hemifacial microsomia and Goldenhar syndrome pose unique challenges to the craniofacial surgeon.The O.M.E.N.S.classification provides a description of the craniofacial features.For the“M”of O.M.E.N.S.(the mandible),the Pruzansky-Kaban classification provides therapeutic guidelines for joint and face reconstruction.A sequence of standard procedures,including temporomandibular joint reconstruction,facial rotation surgery,gluteal fat grafting,and patient-specific titanium implantation,each have their intricacies.The author provides his expert opinion,acquired over thirty years of experience,with an emphasis on descriptions of and solutions for ten problematic issues.