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.

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.

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.

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.

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.

Congenital Cystic Adenomatoid Malformation: A Case Report with Clinical, Radiological, Histological, and Surgical Features

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.

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.

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.

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.

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.

Intestinal malrotation complicated with gastric cancer: A case report

BACKGROUND Intestinal malrotation is a congenital defect of embryonic development caused by various teratogenic factors.In this condition,the intestinal tube,along with the superior mesenteric artery serving as the axis for the counterclockwise movement,is incomplete or abnormally rotated due to incomplete attachment of the mesentery and abnormal intestinal tube position.Such a case is usually asymp-tomatic and thus difficult to detect.Therefore,similar variant malformations are only found during an operation required for other abdominal diseases.CASE SUMMARY An elderly male patient was admitted to the hospital due to gastric cancer.An abdominal computed tomography(CT)scan with contrast revealed that the ascending and descending colon were parallel on the right side of the abdominal cavity,while the sigmoid colon extended into the right iliac fossa,allowing the diagnosis of congenital midgut malrotation.Following thorough preoperative preparation,the patient underwent laparoscopic radical gastrectomy to treat his gastric cancer.Intraoperatively,an exploration of the abdominal cavity uncovered the absence of the transverse colon.The distal colon at the hepatic flexure,along with the ascending colon,extended into the right iliac fossa,where it continued as the sigmoid colon.As planned,the laparoscopic radical gastrectomy was perform-ed,and the patient was discharged from the hospital 7 d after the surgery.CONCLUSION Asymptomatic intestinal malrotation is best detected by CT,requiring no treatment but possibly interfering with the treatment of other diseases.

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.

Abnormal ACT in a Patient with Prekallikrein Deficiency Undergoing Cardiopulmonary Bypass

Prekallikrein deficiency is a disorder that often remains undiagnosed. Prekallikrein activates factor XII, which initiates the intrinsic coagulation pathway. Prekallikrein deficiency results in prolonged Partial Thromboplastin Time and Activated Clotting Time in absence of anticoagulants or active bleeding. This case report describes the anesthesia management of a patient with Prekallikrein deficiency who underwent cardiac surgery with Cardiopulmonary Bypass for correction of a congenital cardiac malformation. We highlight the importance of understanding the different tests available for the diagnosis of coagulation factors deficiency during administration of heparin in the setting of cardiovascular procedures under general anesthesia.

Congenital extrahepatic portosystemic shunt complicated by the development of hepatocellular carcinoma

Congenital extrahepatic portosystemic shunt,also known as Abernethy malformation, is a rare congenital malformation. It causes shunting of blood through a communication between the portal and systemic veins such as a patent ductus venous. We report 3 cases of Abernethy malformation complicated by the development of hepatocellular carcinoma. Additionally, we comprehensively reviewed all previously reported cases and highlighted common features that may help in early diagnosis and appropriate management.Patients with Abernethy malformation may have an increased propensity to develop hepatocellular carcinoma. All 5 previously reported cases, plus the three of our patients, have a type 1（complete） shunt suggesting a role for absent portal blood flow in the pathogenesis of hepatocellular carcinoma. Congenital extrahepatic portosystemic shunt should be sought for in cases with raised serum ammonia, hepatic encephalopathy or hepatocellular carcinoma in the absence of cirrhosis.

Complete Ureteral Duplicity Complicated by Lithiasis with Right Ureterohydronephrosis with Left Renal Excretion Defect: Apropos of a Clinical Case

Ureteral duplication is a congenital malformative uropathy that occurs most often in children. Complete ureteral duplication is defined by a kidney that has two ureters with two orifices that communicate to the bladder through two ureteral meati. It is an anatomical variant that remains rare. Its early discovery is due to a lack of diagnostic means, hence the occurrence of long-term complications. To this end, we observe an increased importance of the morbidity linked to the late diagnosis of this duplicity. Our objective was to show the importance of the morbidity linked to the late diagnosis of this anomaly, the incidence of the infection and the complications that this pathology poses as a problem. It was a clinical case of fortuitous discovery taken care of by a general surgeon in the general surgery department of the hospital “Mother Child” Le Luxembourg Bamako Mali. We report a case of complete ureteral duplication complicated by ureterohydronephrosis on a lithiasis wedged in the uretero-vesical junction of one of the left ureters in its lower portion which required a uretero-lithotomy with bladder reimplantation of the left ureters and secondly to a uretero-lithotomy with bladder reimplantation after two months. The postoperative course was simple.

Atypical Coarctation of the Aorta Revealed by Arterial Hypertension in a 22-Year-Old Young Man

Non-isthmic coarctation of the aorta is a rare congenital malformation in adults. Arterial hypertension is a frequent circumstance of discovery. We reported the case of a 22-year-old Guinean man who had been followed for 5 years for hypertension. Clinically, he presented with hypertension of the upper limbs with a systolic pressure gradient of 100 mmHg. The diagnosis was confirmed by thoracic angioscan, which showed a 65.8% coarctation of the abdominal aorta. He was on triple antihypertensive therapy combining Atenolol 100 mg, Amlodipine 10 mg and Perindopril 10 mg. He is awaiting interventional treatment. His blood pressure is stable at around 140/90 mmHg.

Case of Incomplete Ureteral Duplication Complicated with Lithiasis and Right Uretero-Hydronephrosis

Ureteral duplication is congenital malformative uropathy that occurs most often in children. Complete ureteral duplication is defined by a kidney that has two ureters with two orifices that communicate to the bladder through two ureteral meati. It is an anatomical variant that remains rare. Its early discovery is due to a lack of diagnostic means, hence the occurrence of long-term complications. To this end, we observe an increased importance of the morbidity linked to the late diagnosis of this duplicity. We report a case of incomplete ureteral duplication complicated by ureterohydronephrosis on lithiasis wedged in the uretero-vesical junction of one of the ureters in its lower portion which required uretero-lithotomy with bladder reimplantation of the ureters. Our aim was to show the importance of the morbidity associated with late diagnosis of this anomaly and the incidence of infection and complications that this pathology poses as a problem. This was a clinical case of fortuitous discovery managed by a general surgeon in the general surgery department of the hospital “Mère Enfant” Le Luxembourg Bamako Mali. The suites were simple.

Bone Defect of the Cranial Vault: Difficulty of the Diagnostic about a Case, and Revew of Literature

The bone defects of the cranial vault encompassed rare malformations including acalvaria, hypocalvaria, acrania, hypocrania, anencephaly and exencephaly. They are also described in some pathological entities such as aplasia cutis congenita of the scalp. We report an unusual case of cephalic malformation which combine defects of the skin, the dura mater, and the bones of the vault, with a malformation of the central nervous system. This unique case emphasizes a problem of nosological definition between the terms mentioned above. acalvaria, the acrania, the hypocalvaria and the aplasia cutis congenita. Thus, herein, we proceed to a literature review of bone defects of the skull and their differential diagnosis.

ICSI治疗男科不育对后代的影响

Since the introduction of intracytoplasmic sperm injection （ICSI） using single sperm isolated from testicular tissue in men with obstructive and non-obstructive azoospermia, or using ejaculated sperm in those with poor semen quality, there have been concerns that this might have adverse effects on the offspring compared to conventional in vitrofertilisation （IVF） and natural conceptions. ICSI is done for reasons other than male factor infertility, and on the whole has not been shown to have any more negative effects than those seen with IVF. There have however, been very few studies of ICSI with a focus on, or large enough numbers to examine, the specific outcomes associated with male factor infertility. From the limited information available in relation to the source of the sperm and aetiology of infertility in the presence of ICSI, there appears to be no increased risk of congenital malformations. There is, however, a small increase in both de novoand inherited chromosome abnormalities. In terms of growth and neurodevelopment, there are very few studies, and so far, no adverse outcomes have been found in young children whose fathers have a sperm defect. The origin of the sperm used in ICSI does not have a major influence on the early life outcomes for the offspring, but transgenerational and epigenetic effects remain unknown. When the male factor infertility is known or thought to be due to a Y-chromosome deletion, this information should be given to the young male offspring at a time that will ensure his own reproductive health and plans are optimized.

Cleft foot: A case report and review of literature

BACKGROUND Cleft foot is a very rare congenital anomaly,which is characterized by central rays deficiency of the foot.It is also known as split foot or ectrodactyly of the foot,and it is very often combined with splitting of the hands.The defect develops due to insufficient activity of the median apical ectodermal ridge,which leads to an increase in cell death or a decrease in cell proliferation.Due to the rarity of the pathology,there are few papers on the surgical treatment of this congenital foot disease,and publications to date concern the treatment of children.CASE SUMMARY We present a clinical case of congenital splitting of the feet and hands in a 31-year-old woman and a long-term result of foot treatment using the minimal arrangement of the Ilizarov apparatus.The patient had paternal inheritance of the trait.After the surgical treatment,cosmetic view and functional condition of the foot were improved and persisted two years after intervention.There were no complications in the treatment process.CONCLUSION The possibility of dosed control and stable fixation of the foot rays made it possible to create favorable conditions for the healing of the central wound and the closure of the segment splitting without complications.The long-term outcome of the treatment of foot congenital splitting using the proposed Ilizarov apparatus arrangement has shown its effectiveness.Our approach should be considered as an option of treatment in similar cases.