Cardiac Malformations in Congenital Hypothyroidism: A Case Report

Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.

A mutation in TBXT causes congenital vertebral malformations in humans and mice

T-box transcription factor T(TBXT;T)is required for mesodermal formation and axial skeletal development.Although it has been extensively studied in various model organisms,human congenital vertebral malformations(CVMs)involving T are not well established.Here,we report a family with 15 CVM patients distributed across 4 generations.All affected individuals carry a heterozygous mutation,T c.596A>G(p.Q199R),which is not found in unaffected family members,indicating co-segregation of the genotype and phenotype.In vitro assays show that T p.Q199R increases the nucleocytoplasmic ratio and enhances its DNA-binding affinity,but reduces its transcriptional activity compared to the wild-type.To determine the pathogenicity of this mutation in vivo,we generated a Q199R knock-in mouse model that recapitulates the human CVM phenotype.Most heterozygous Q199R mice show subtle kinked or shortened tails,while homozygous mice exhibit tail filaments and severe vertebral deformities.Overall,we show that the Q199R mutation in T causes CVM in humans and mice,providing previously unreported evidence supporting the function of T in the genetic etiology of human CVM.

Macroscopic Congenital Malformations at the Institute of Nutrition and Child Health (INSE)

Introduction: A congenital malformation is defined as a morphological abnormality of an organ or body region resulting from an abnormal developmental process during the formation of the embryo or fetus. Depending on their type, location and size, malformations can cause functional, psychological and aesthetic defects. The aim of this study is to document the frequency of congenital malformations, describe the characteristics of malformed newborns and their biological mothers, and identify the different types of malformations presented by newborns at the INSE. Methods: Descriptive cross-sectional study of clinically visible malformed newborns. It was carried out from January 1, 2021 to January 1, 2022 at the INSE neonatology unit. Epi info version 3.1 software was used for data entry and analysis. Results: Of a total of 2332 neonates hospitalized during the study period, 81 (3.5%) cases had at least one clinically visible congenital malformation. Nearly 84% had an age ≤ 7 days at the time of admission. The male sex was most concerned (60.5%). Newborns referred by a health facility accounted for 84%. Malformations of the digestive system accounted for 30.9% of cases, followed by those of the limbs (19.8%) and poly malformative syndrome (19.8%). Conclusion: This study shows that congenital malformations exist and are frequent in Guinea. Our results could therefore be the starting point for the future establishment of a national register of congenital malformations.

Adult Congenital Lumbar Kyphosis Requiring Anteroposterior Correction and Fusion: A Case Report with 32-Year Follow-Up

Congenital pure kyphosis due to failure of vertebral body segmentation is a relatively rare entity, and surgical intervention is infrequent compared to that for failure of vertebral body formation [1] [2]. There are very few reports of long-term follow-up of surgical treatment in patients with congenital pure kyphosis, and all the reported cases were diagnosed as failure of formation and had an age at the time of surgery of less than 18 years. It is important for orthopedic surgeons to follow the postoperative course of rare cases over 30 years. Here, we present a surgically treated case with ultra-long term follow-up of a 50-year-old patient with congenital pure kyphosis of the lumbar spine. Imaging of the lumbar spine showed six vertebrae and an unsegmented bar at L3-4 causing a pure kyphosis of 54°. The wedge-shaped block vertebra had 4 pedicles with the neural foramen between the pedicles without concomitant disc space, with compensatory thoracic hypokyphosis and lower lumbar hyperlordosis. One-stage correction and fusion surgery using anterior opening and posterior closing osteotomy was successfully performed. Both clinical and radiographic results were excellent and have been maintained for over 30 years postoperatively. The basic principle in the surgical treatment of adult spinal deformity is to achieve and maintain a good global sagittal balance over time. This case reaffirms the importance of spinopelvic harmony.

Percutaneous coil embolisation of congenital hepatic arteriovenous malformations in two patients with congenital heart disease and review of the literature

Congenital hepatic arterio-venous malformations (AVM) are rare vascular anomalies and have rarely been reported in the presence of congeni-tal heart disease. The reported cases are mostly hemangiomas fed either by the hepatic artery itself or by one of its branches. We present two unique hepatic AVM cases in the presence of congenital heart defects in which the AVM was not fed by the hepatic arterial system. Transcatheter coil embolisation was successfully carried out in both of them by using non-detachable Gianturco coils. Complete occlusion was achieved without any sequel.

Possible link between congenital uterine malformations and epitheliod trophoblastic tumor

Background: Epitheloid trophoblast tumor (ETT) is a tenuous type of gestational trophoblastic disease. Although clinically ETT behave in variable fashion, it is considered as a potentially malignant tumor, fatal malignancy occurs in 10% of the cases. Case and Conclusion: A 41 years old patient, who previously underwent Tompkins operation because of congenital uterine septum was admitted to our clinic due to irregular bleeding. Despite of serum hCG levels under the upper limit of normal, histopathology analysis of D&C obtained endometrial samples confirmed the presence of ETT by immunostainings. Henceforth we performed prompt abdominal hysterectomy and preserved the normal structured ovaries. According to the müllerianosis theory of endometriosis aberrant differentiation or migration could cause spreading of cells throughout the fetal organogenesis of the uterus. These cells in an apoptosis week environment might correlate with the initiation of ETT. As a conclusion we suggest further studies to assess the link between ectopic cells and ETT, to gain a better understanding in the pathomechanism of the tumor.

Management of Congenital Malformations of the Face in the GbèkèRegion (Côte d’Ivoire)

Background: Congenital malformations of the face are relatively frequent in the Gbèke region (Côte d’Ivoire). Objectives: Identify the epidemiological aspects, describe the management method, distinguish the anatomical-clinical aspects and identify the therapeutic methods and their results. Material and methods: A retrospective and descriptive study was carried out over a period of 8 years (2012-2019) in the Odontostomatology and Maxillofacial Surgery Department of the University Hospital Centre (Bouaké) and in the “Jean Baptiste Vatelot” religious hospital of Bouaké. The study concerned patients whose congenital malformations of the face had undergone primary surgery. Results: 439 patients were collected, i.e. an annual frequency of 54.88 cases per year. The sex ratio was 1.07 and the mean age was 6.82 years (range 5 months to 48 years). There were 434 (98.86%) cleft lips and palates and 5 (1.14%) Tessier’s clefts. Among the cleft lip and palate, there were 214 (49.31%) cleft lip, 127 (29.26%) cleft palate and 93 (21.43%) combined cleft lip and cleft palate. Surgical treatments numbered 532 and included 293 (55.08%) cheiloplasties, 113 (21.24%) pushback uranostaphyloraphies and 90 (16.92%) double flap palatoplasties. Complications were noted in 43 cases. Conclusion: Congenital malformations of the face were managed relatively late in the Gbèkè region with satisfactory results. Ante-natal diagnosis, early psychotherapy and a better screening system should allow an improvement of the management.

Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report

BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the disease.Currently,treatment is only rehabilitation and surgery for cleft lip and palate.CASE SUMMARY The proband was a 2-years-8-months-old girl.Familial history was negative for congenital malformations or intellectual disability.The patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and palate.Brain magnetic resonance imaging showed cortical atrophy and band heterotopia.Her motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were detected.CONCLUSION There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 deletion.We describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular defect.Additional clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.

Perinatal Outcome and Frequency of Congenital Malformations in Pregnancy Complicated with Diabetes Type 1 and Type 2

Objectives: The objectives of this study were to evaluate and compare perinatal outcomes and frequency of congenital malformations in pregnancy that are complicated with type 1 and type 2 diabetes. Study Design: This prospective study included 557 pregnant women with type 1 diabetes and 149 pregnant women with type 2 diabetes that gave birth in the Clinic for Diabetes in Pregnancy in Zagreb, from January 2000 to December 2012. Results: Women with type 2 diabetes were significantly older than women with type 1 diabetes (p < 0.003;32.8 ± 5.5 versus 29.3 ± 3.2) and they have significantly higher BMI compared to type 1 diabetes (P < 0.001;29.2 ± 6.5 versus 23.5 ± 3.8). Comparing their delivery patterns, women with type 1 diabetes were significantly more likely to give birth by caesarean section than women with type 2 diabetes (p < 0.001;466 versus 82). The offspring of women with type 1 diabetes were more likely to be delivered preterm in comparison with offspring of women with type 2 diabetes (109 versus 31). Macrosomia is recognized characteristic of pregnancies complicated by diabetes and its incidence was significantly higher in women with type 1 diabetes compared to women with type 2 diabetes (p < 0.035;174 versus 38). Neonatal malformations were higher in women with type 1 vs. type 2 diabetes (12 versus 7), but not statistically significant. Glycosylated haemoglobin (HbA1c) levels were statistically significantly higher in the first trimester (8.02% v. 6.72%), second (7.55% versus 6.27%) and third trimester (7.40% versus 6.03%) in women with type 1 and type 2 diabetes that gave birth to neonates with congenital malformations. Perinatal mortality was higher in pregnant women with type 1 diabetes than in women with type 2 diabetes (4 versus 2) but not statistically significant. Conclusion: Comparing perinatal mortality and frequency of congenital malformations in women with type 1 and type 2 diabetes, we didn’t find any important statistical differences. There is no significant difference in complication for babies of women with type 1 and type 2 diabetes, and it is likely that the most important causative factor is a high maternal blood glucose concentration.

Treatment of adult congenital anal atresia with rectovestibular fistula:A rare case report

BACKGROUND Female anorectal malformation is a correctable congenital defect.Delayed manifestations in patients with anal deformities are uncommon,especially after adolescence.CASE SUMMARY The clinical data of a 19-year-old adult female patient with congenital anal atresia accompanied by rectovestibular fistula as the main manifestation was retrospectively analyzed.Diagnosis was made based on the patient's clinical symptoms,signs,imaging showing the fistula,X-ray and magnetic resonance imaging results.The preoperative examination was improved.Anorectoplasty was performed.The patient exhibited an improvement in quality of life and presented no evidence of fecal incontinence during the 6-mo follow-up.CONCLUSION Transfistula anorectoplasty is a reasonable and reliable surgical method for the treatment of adult congenital anal atresia and rectovestibular fistula.

Acute spinal subdural haematoma complicating a posterior spinal instrumented fusion for congenital scoliosis:A case report

BACKGROUND Acute spinal subdural haematoma(ASSH)is a rare and potentially devastating condition with a variable prognosis.Previously described subdural haematomas were thought to have occurred spontaneously or be related to major or minor iatrogenic or traumatic injuries caused by surgery,spinal puncture or epidural anaesthesia.Other contributing pathologies have been described,such as intradural tumours or spinal arteriovenous malformations.ASSH has also been associated with anticoagulation therapy,haemostatic abnormalities and risk factors such as pregnancy.To the best of our knowledge,this case study described the first reported occurrence of an ASSH during spinal surgery in a paediatric patient.The patient was not known to have any coagulopathies,and no obvious vascular lesions were documented.The surgical procedure did not directly involve the dura mater,and no evident intraoperative dural tears were found.CASE SUMMARY We reported and discussed a case of ASSH complicating a posterior spinal instrumented fusion during surgery for paediatric congenital scoliosis.This condition has not been previously described.We made recommendations for facing such an occurrence,explored its aetiology in the context of malformation and discussed the benefits of neuromonitoring during scoliosis correction and the management protocol.We conducted a PubMed literature review for cases of paediatric ASSH and other closely related disorders.We reviewed recommendations regarding neuromonitoring and treatment management in such cases.CONCLUSION ASSH is a rare complication of posterior spinal instrumented fusion.Published cases are more often associated with anticoagulation therapy or coagulopathy.Neuromonitoring is strongly recommended to detect and assess neurological status,thus enabling rapid diagnosis and treatment and facilitating early spinal decompression and a return to a normal neurological status.

Major Ear Aplasia and Cochleovestibular Dysplasia: Rare Congenital Malformation about a Case

Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.

Detection of Congenital Uterine Malformation by Using Transvaginal Three-dimensional Ultrasound

This study assessed the clinical application of transvaginal three-dimensional ultrasound （3D TVUS） in the diagnosis of congenital uterine malformation. A retrospective study was performed on 62 patients with congenital uterine malformation confirmed hysteroscopically and/or laparoscopically. The patients were subjected to transvaginal two-dimensional ultrasound （2D TVUS） and 3D TVUS. The accuracy rate was compared between the two methods. The accuracy rate of 3D TVUS was （98.38%, 61/62）, higher than that of 2D TVUS （80.65%, 50/62）. 3D TVUS coronal plane imaging could demon- strate the internal shape of the endometrial cavity and the external contour of the uterine fundus. It al- lowed accurate measurement on the coronary plane, and could three-dimensionally show the image of cervical tube, thereby providing information for the diagnosis of some complex uterine malformation. 3D TVUS imaging can obtain comprehensive information of the uterus malformation, and it is superior to 2D TVUS for the diagnosis of congenital uterine malformations, especially complex uterine anomaly.

A possible association between cervical erosion in pregnant women and congenital abnormalities in their children-a population-based case-control study

Objective to study the possible association between erosion of cervix in pregnant women (ECP) and structural birth defects, i.e. congenital abnormalities (CA) in their offspring. Study design: Comparison of cases with CA and all matched controls without any CA born to wo- men with prospectively and medical record ECP in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA). Results: HCC- SCA contained 22,843 cases and 38,151 matched controls, the informative offspring of 40 (0.18%) case mothers and the newborns of 25 control mothers (0.07%) with ECP were compared and the higher risk for total CA (adjusted OR with 95% CI: 2.7, 1.6-4.4) was found explained by the higher risk of 9 cases with hypospadias (OR with 95% CI: 4.5, 2.1-9.7) and 10 cases with car-diovascular CAs (OR with 95% CI: 3.4, 1.6-7.1), particularly with conotruncal CAs. Conclusions: An unexpected possible association of ECP with higher risk for hypospadias and conotrun-cal cardiovascular CAs was found and these findings are considered as signals that need confirmation or

Insight into congenital absence of the portal vein:Is it rare?

Congenital absence of portal vein (CAPV) was a rare event in the past. However,the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present with portal hypertension (PH) or porto-systemic encephalopathy (PSE),but these conditions rarely occur until the patients grow up or become old. The patients usually visit doctors for the complications of venous shunts,hepatic or cardiac abnormalities detected by ultrasonography (US),computed tomography (CT) and magnetic resonance imaging (MRI). The etiology of this disease is not clear,but most investigators consider that it is associated with abnormal embryologic development of the portal vein. Usually,surgical intervention can relieve the symptoms and prevent occurrence of complications in CAPV patients. Moreover,its management should be stressed on a case-by-case basis,depending on the type or anatomy of the disease,as well as the symptoms and clinical conditions of the patient.

Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung （CCAM）. Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CC,4M over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01‰ （1/11 124） before 28 gestation weeks. There were 1 case of type Ⅰ （8%）, 2 cases of type Ⅱ （17%） and 9 cases of type Ⅲ （75%）. Nine pregnancies were terminated and 2 cases were confirmed by pathology. Three neonates were alive and without any symptom now. Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination offetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

Application of MPVR and TL-VR with 64-row MDCT in neonates with congenital EA and distal TEF

AIM:To assess the application of multiple planar volume reconstruction(MPVR) and three-dimensional (3D) transparency lung volume rendering(TL-VR) with 64-row multidetector-row computed tomography (MDCT) in neonates with congenital esophageal atresia (EA) and distal tracheoesophageal fistula(TEF).METHODS:Twenty neonates(17 boys,3 girls) with EA and distal TEF at a mean age of 4.6 d(range 1-16 d) were enrolled in this study.A helical scan of 64-row MDCT was performed at the 64 mm×0.625 mm collimation.EA and TEF were reconstructed with MPVR and TL-VR,respectively.Initial diagnosis of EA was made by chest radiography showing the inserted catheter in the proximal blind-ended esophageal pouch.Manifestations of MDCT images were compared with the findings at surgery.RESULTS:MDCT showed the proximal and distal esophageal pouches in 20 cases.No significant difference was observed in gaps between the proximal and distal esophageal pouches detected by MPVR and TLVR.The lengths of gaps between the proximal and distal esophageal pouches detected by MPVR and TL-VR correlated well with the findings at surgery(R=0.87,P<0.001).The images of MPVR revealed the orifice of TEF in 13 cases,while TL-VR images showed the orifice of TEF in 4 cases.CONCLUSION:EA and distal TEF can be reconstructed using MPVR and TL-VR of 64-row MDCT,which is a noninvasive technique to demonstrate the distal esophageal pouches and inter-pouch distance in neonates with EA and distal TEF.

Usefulness of prenatal magnetic resonance imaging in differential diagnosis of fetal congenital cystic adenomatoid malformation and bronchopulmonary sequestration

BACKGROUND Congenital cystic adenomatoid malformation(CCAM)and bronchopulmonary sequestration(BPS)are the most common lung diseases in fetuses.There are differences in the prognosis and treatment of CCAM and BPS,and the clinical diagnosis and treatment plan is usually prepared prior to birth.Therefore,it is quite necessary to make a clear diagnosis before delivery.CCAM and BPS have similar imaging features,and the differentiation mainly relies on the difference in supply vessels.However,it is hard to distinguish them due to invisible supplying vessels on some images.AIM To explore the application value of magnetic resonance imaging(MRI)in the differential diagnosis of fetal CCAM and BPS.METHODS Data analysis for 32 fetuses with CCAM and 14 with BPS diagnosed by prenatal MRI at Huzhou Maternal and Child Health Care Hospital and Anhui Provincial Children’s Hospital from January 2017 to January 2020 was performed to observe the source blood vessels of lesions and their direction.Pathological confirmation was completed through CT examination and/or operations after birth.RESULTS After birth,31 cases after birth were confirmed to be CCAM,and 15 were confirmed to be BPS.The CCAM group consisted of 21 macrocystic cases and 10 microcystic cases.In 18 cases,blood vessels were visible in lesions.Blood supply of the pulmonary artery could be traced in eight cases,and in 10 cases,only vessels running from the midline to the lateral down direction were observed.No lesions were found in four macrocystic cases and one microcystic case with CCAM through CT after birth;two were misdiagnosed by MRI,and three were misdiagnosed by prenatal ultrasonography.The BPS group consisted of 12 intralobar cases and three extralobar cases.Blood vessels were visible in lesions of nine cases,in four of which,the systemic circulation blood supply could be traced,and in five of which,only vessels running from the midline to the lateral up direction were observed.Three were misdiagnosed by MRI,and four were misdiagnosed by prenatal ultrasonography.CONCLUSION CCAM and BPS can be clearly diagnosed based on the origin of blood vessels,and correct diagnosis can be made according to the difference in the direction of the blood vessels,but it is hard distinguish microcystic CCAM and BPS without supplying vessels.In some CCAM cases,mainly the macrocystic ones,the lesions may disappear after birth.

Combined endovascular-surgical treatment for complex congenital intrahepatic arterioportal fistula: A case report and review of the literature

BACKGROUND Congenital intrahepatic arterioportal fistula(IAPF) is a rare vascular malformation in infants that causes severe portal hypertension(PH) with poor prognosis if untreated. Currently, radiological embolisation is considered the first-line therapy for simple IAPF; however, it might be not resolutive for complex hepatic vascular lesions. When endovascular embolization is not sufficient to completely obliterate the IAPF, surgical intervention is needed, but it has been associated with severe morbidity and mortality in small children.Furthermore, indications are not defined.CASE SUMMARY We present the first case of a 6-month-old girl with trisomy 21 affected by a complex congenital IAFP, which caused severe PH, successfully treated with an endovascular-surgical hybrid procedure. The novel technique comprised a multistep endovascular embolisation, including a superselective transarterial embolisation of the afferent vessels and a direct transhepatic embolisation of the dilated portal vein segment, combined with selective surgical ligation of the arterial branches that supply the fistula, which were too small to be embolised.The complex IAPF was also associated with severe cholestasis and intra/extrahepatic biliary tree dilatation, which was successfully treated by a temporary biliary drainage. At 24-mo follow-up, the hybrid endovascularsurgical procedure achieved complete occlusion of the complex IAPF and resolution of the PH. A comprehensive review of the literature on congenital IAPF management, focussed on alternative treatment strategies, is also reported.CONCLUSION The combined radiological-surgical approach is a safe and effective treatment option for complex IAPF and avoids major invasive surgery.

Rare Case of Adult Congenital Cystic Adenomatoid Malformation Diagnosed with CT Perfusion Imaging and Hystological Sample

We describe the case of a 44-year-old man with congenital cystic adenomatoid malformation. Both computed tomographic (CT) scan findings with perfusion protocol and histological biopsy led to diagnosis. CT scan showed multiple terminal bronchiolar-like uniform cysts smaller than 2 cm and CT perfusion allowed to make a differential diagnosis with an usual interstitial pneumonia. In order to make a definite diagnosis, an open lung biopsy confirmed the CT findings.