An aborted case suspected to CHARGE Syndrome; A rare case with cardiac, intestinal and kidney abnormalities

Background CHARGE syndrome is a life-threatening congenital anomaly. The syndrome associations consist of coloboma, heart disease, atresia of the choanae, retarded growth and development, genital hypoplasia/genitourinary anomalies, and ear anomalies and or hearing loss. The aim of this paper is to describe and discuss a rare case of CHARGE syndrome. Case presentation During the routine dissection, atrial septal defect, overriding aorta from both ventricles, patent ductus arteriosus, duodenal anomaly, absent pancreas, right side descending and sigmoid, intestinal herniation in lesser sac, and left kidney anomaly were observed. Conclusions This rare case is of importance in re-considering the criteria of CHARGE and understanding the importance of the orchestrated morphologic driving forces of embryonic development.

Clinical Outcomes of Patients with Pulmonary Agenesis

Introduction: Pulmonary agenesis is a complete absence of the pulmonary parenchyma, bronchi beyond the bifurcation, and pulmonary vasculature unilaterally or bilaterally. Because of the rare occurrence, its pathophysiology and outcome remain elusive. We evaluate the clinical features and risk factors for mortality due to pulmonary agenesis. Methods: Two patients we experienced are presented as index cases. All reported cases of pulmonary agenesis were collected from online and publication databases between 1955 and 2020. We assessed the impact of comorbidity and intervention on the survival outcome. Results: We identified 230 patients—138 (60%) with right-sided, and 14 (6%) with bilateral agenesis—among 164 articles and our cases. There were 93 (40%) cardiovascular, 70 (30%) skeletal, and 48 (21%) gastrointestinal anomalies; 47 (20%) tracheal stenoses; and 33 (14%) genitourinary anomalies. Fifty-two (23%) patients had isolated pulmonary agenesis. The 2-year overall survival (OS) rate was 66% and there was no subsequent death until 13 years of age. The right agenesis was significantly associated with a lower 2-year OS rate (58% vs. 78%, p=0.019) or more frequent tracheal stenosis (28% vs. 12%, p=0.006) than left-sided disease. A multivariable analysis indicated that tracheal stenosis (hazard ratio [HR] 2.4, 95% confidence interval [CI] 1.5-4.1, p=0.004) and gastrointestinal anomaly (HR 1.9, 95% CI 1.1-3.3, p=0.018) were prognostic factors for mortality. Conclusions: The poor prognostic factors were tracheal stenosis, right agenesis and gastrointestinal anomaly. Tracheal and gastrointestinal controls are targeted at birth and in infancy for the improved survival of unilateral pulmonary agenesis.

Beckwith Wiedemann Syndrome with Congenital Heart Disease - A Case Report

Beckwith - Wiedemann Syndrome (BWS) usually present at birth is an overgrowth disorder, characterized by variable spectrum of clinical findings. The classical features include macrosomia, macroglossia, midline abdominal wall defects, hypoglycaemia in neonates and ear creases. We present a six-month-old female child with history of difficulty in sucking. Macrosomia with macroglossia was present on general examination. The infant had continuous murmur which was best heard at infraclavicular area. Mild hepatomegaly with splenomegaly was present on per abdominal examination. Echocardiography study revealed moderate size patent ductus arteriosus (PDA) with left to right shunt without pulmonary hypertension which was closed by PDA device. Beckwith - Wiedemann syndrome is an overgrowth disorder in paediatrics age group. It is estimated that BWS has an incidence of 1 in 13,700 population with equal chances in both male and female.1 An American pathologist, Dr. John Bruce and a German paediatrician named Dr. Hans-Rudolf Wiedemann, had suggested about this condition separately. Initially it had been termed EMG (exomphalos, macroglossia, and gigantism) syndrome which was thereafter referred to as Beckwith Wiedemann syndrome. Genetically BWS is said with an alteration of the organic phenomenon at the petit arm of chromosome 11 (11p15) causing over activity of growth factor IGF - 2 gene and/or no active copy of the inhibitor gene of cell proliferation - CDKN1C. Child presents with the mixture of congenital abdominal wall defects as exomphalos, macroglossia and gigantism. Some additionally present also with hemihypertrophy port-wine stain, midface hypoplasia, prominent occiput, genitourinary anomalies like enlarged kidneys, musculoskeletal abnormalities, cardiac defects and deafness.2,3 These children may grow at an accelerated pace during the latter half of the antenatal period continuing in the initial few years of life. Though, their adult heights are usually in the normal range. Here, we report a six-month-old female infant, who presented with evident features of BWS with congenital heart disease.

Congenital Malformation Risk According to Hemoglobin A1c Values in a Contemporary Cohort with Pregestational Diabetes

Objective The study aimed to evaluate the association between hemoglobin A1c values and likelihood of fetal anomalies in women with pregestational diabetes. Study Design Women with pregestational diabetes who delivered at a single institution that serves a nonreferred population from May 1, 2009 to December 31, 2018 were ascertained. Hemoglobin A1c values were obtained at the first prenatal visit. Women who delivered a singleton live- or stillborn infant with a major malformation as defined by European Surveillance of Congenital Anomalies criteria were identified. In infants with multiple system anomalies, each malformation was considered separately. Hemoglobin A1c values were analyzed categorically by using Mantel–Haenszel method and continuously with linear regression for trend for fetal anomalies. Results A total of 1,676 deliveries to women with pregestational diabetes were delivered at our institution, and hemoglobin A1c was assessed in 1,573 deliveries (94%). There were 129 deliveries of an infant with at least one major malformation, an overall anomaly rate of approximately 8%. Mean hemoglobin A1c concentration was significantly higher in pregnancies with anomalous infants, 9.3 ± 2.1% versus 8.0 ± 2.1%, and p <0.001. There was no difference in gestational age at the time hemoglobin A1c was obtained, 13 ± 8.3 versus 14 ± 8.7 weeks. Hemoglobin A1c was associated with increased probability of a congenital malformation. This reached 10% with a hemoglobin A1c concentration of 10%, and 20% with a hemoglobin A1c of 13%. Similar trends were seen when examining risk of anomalies by organ system with increasing hemoglobin A1c levels, with the greatest increase in probability for both cardiac and genitourinary anomalies. Conclusion In women with pregestational diabetes, hemoglobin A1c is strongly associated with fetal anomaly risk. Data from a contemporary cohort may facilitate counseling and also highlight the need for preconceptual care and glycemic optimization prior to entry to obstetric care. Key Points

Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment

Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and Ear anomalies), and Complete DiGeorge Syndrome. Congenital athymia can result from defects in genes that impact thymic organ development such as FOXN1 and PAX1 or from genes that are involved in development of the entire midline region, such as TBX1 within the 22q11.2 region, CHD7, and FOXI3. Patients with congenital athymia have profound immunodeficiency, increased susceptibility to infections, and frequently, autologous graft-versus-host disease (GVHD). Athymic patients often present with absent T cells but normal numbers of B cells and Natural Killer cells (T−B+NK+), similar to a phenotype of severe combined immunodeficiency (SCID); these patients may require additional steps to confirm the diagnosis if no known genetic cause of athymia is identified. However, distinguishing athymia from SCID is crucial, as treatments differ for these conditions. Cultured thymus tissue is being investigated as a treatment for congenital athymia. Here, we review what is known about the epidemiology, underlying etiologies, clinical manifestations, and treatments for congenital athymia.

Endovascular treatment of postpartum haemorrhage in a woman with genitourinary and vascular congenital malformations

A 43-year-old woman presented with postpartum haemorrhage necessitating uterine artery embolisation. Prior to embolisation, angiography demonstrated the presence of a persistent sciatic artery (PSA). Due to the possibility of embolic particles inadvertently traveling to the lower extremity via this variant arterial pathway, care was taken to only embolise the uterine artery. PSAs are uncommon but important vascular pathways to screen for during pelvic intervention and are associated with other genitourinary anomalies.

Imaging of Complete Vertebral Duplication with Normal Neurological Status: A Rare Case

Vertebral Duplication represents the most severe aspect of the spectrum of Split Cord Malformations. It is a rare anomaly with very few reported cases. Associated other spinal anomalies along with severe neurovascular and genitourinary anomalies may also co-exist. We are reporting a case of a 21 years old adult female patient, who presented with history of trauma, incidentally detected to be having complete lumbar duplication along with dural sac duplication and multiple complex segmentation anomalies in the form of incarcerated lateral hemi-vertebra, butterfly vertebra and non-segmented lateral hemi-vertebra at D10 to D12 vertebrae. On Computed Tomography (CT) imaging these anomalies become well evident while the patient presented with no neurological manifestations or abnormalities. This is a rarely reported scenario in literature where no neurological symptoms are seen in a case of vertebral duplication.