Developmental Congenital Anomalies Research Articles

PITUITARY STALK INTERRUPTION SYNDROME REVEALED BY SEVERE AND PERSISTENT NEONATAL HYPOGLYCEMIA

We present the case of a newborn who exhibited severe and persistent neonatal hypoglycemia without any apparent risk factors. The persistence of profound hypoglycemia, measured at 0.22 mmol/L, prompted an extensive biological workup that revealed a significant decrease of several pituitary hormones. The diagnosis of pituitary stalk interruption syndrome (PSIS) was confirmed by magnetic resonance imaging (MRI), which showed a complete interruption of the pituitary stalk. Prompt initiation of replacement therapy led to a notable clinical improvement and stabilization of blood glucose levels, thereby minimizing the risk of further hypoglycemic episodes.This case underscores the importance of broadening the etiological investigation in cases of persistent hypoglycemia without an obvious context, as hypoglycemia can be the sole clinical manifestation of PSIS. This congenital developmental anomaly of the pituitary gland represents a diagnostic emergency, and the prognosis is highly dependent on the prompt implementation of hormonal replacement therapy.

Lobar Emphysema Successfully Operated in an Extreme Premature Neonate

Background: Lobar emphysema in a newborn may be due to a rare congenital developmental anomaly of the lung, termed congenital lobar emphysema (CLE) or may develop secondary to lung damage, especially with positive airway pressures in premature newborns, known as acquired lobar emphysema (LE). They may have overlapping clinical and radiological features. However, surgical lobectomy is required whenever there is significant respiratory compromise. Reports of surgery in LE in extreme preterms are sparse. Clinical Description: A female newborn with gestational age of 28 weeks, weight of 1.180 kg, presented with respiratory distress after birth, initially treated as hyaline membrane disease. With worsening respiratory distress on positive airway pressures, repeat chest X-ray and computed tomography (CT) chest on day 15 of life, suggested possible LE on the left side with the tracheo-mediastinal shift to the right. Management and Outcome: Left thoracotomy and left upper lobectomy was done, following which, there was rapid improvement in respiratory distress, the newborn being extubated after 6 hours, and weaned off oxygen over the next 3 days. The baby was discharged after 8 weeks and at the last follow-up of 3 years of age, the child was growing well with no complications. Conclusion: Preterm neonates with initial radiological features of hyaline membrane disease, requiring prolonged respiratory support, may be harboring other underlying lung anomalies, which are identified by CT chest. Lobar emphysema with tracheo-mediastinal shift warrants prompt surgery, which is feasible and successful, even in a low birth-weight premature infant.

Nijmegen syndrome in childhood: a clinical case

Nijmegen syndrome is a rare monogenic pathology with an autosomal recessive type of inheritance. The disease is manifested by congenital developmental anomalies and microcephaly, primary immunodeficiency, frequent recurrent viral and bacterial infections, retardation in physical and neuropsychic development. In the medical literature, 150 cases of the syndrome are described; pathology occurs more often among the Slavic population. Nijmegen syndrome belongs to a group of diseases with chromosomal instability. The pathogenetic feature of the syndrome is congenital immunodeficiency of the humoral (B-lymphocytes) and cellular (T-lymphocytes) components. According to statistics, 40 % of children with Nijmegen syndrome are diagnosed with malignant neoplasms. lymphoid tissue is more often affected (non-Hodgkin’s B and T-cell lymphomas, acute lymphoblastic leukemia), and the development of solid neoplasia is also possible. To diagnose Nijmegen syndrome, in addition to assessing the patient clinical status, it is necessary to conduct an extended immunological examination with the determination of immunoglobulins A, M, G and molecular genetic studies.The article presents a clinical case of diagnosis and treatment of Nijmegen syndrome in childhood.

СРАВНИТЕЛЬНЫЙ АНАЛИЗ ИСХОДОВ БЕРЕМЕННОСТИ ПОСЛЕ ИНФЕКЦИИ COVID-19, ПЕРЕНЕСЕННОЙ ВО ВТОРОМ И ТРЕТЬЕМ ГЕСТАЦИОННЫХ ПЕРИОДАХ

Introduction. Issues of providing medical care to pregnant women in the setting of COVID-19 infection remain a priority for physicians of many health professions, since it is this disease an increased incidence of adverse outcomes for both mothers and fetuses is associated with in recent years. Aim. To study the peculiarities of pregnancy course and outcomes after COVID-19 infection that has developed in the second and/or third gestation periods. Materials and Methods. Birth histories for 2021 were analyzed. Group 1 (n=30) consisted of patients with COVID-19 infection developed in the second trimester, group 2 (n=69) of those with the infection developed in the third trimester. We studied the anamnesis details, pregnancy and labor complications, and perinatal outcomes. Statistical analysis has been performed using Excel MS and Statistica 7.0 programs. The data obtained are presented as mean values (M) and standard deviation (SD), as well as the absolute (n) and relative (%) frequencies of observations. To establish the significance of differences between two mean values of parameters, Student’s t-test was used, and Pearson’s χ2 criterion was used for qualitative parameters (differences at p<0.05 were considered significant). Results and Discussion. It was found that the course of pregnancy after COVID-19 infection, regardless of the disease manifestation times (p>0.05), is associated with developing placental insufficiency (30.0 % in group 1 and 50.7 % in group 2), the symptoms of threatened abortion (46.7 and 53.6%, respectively), hypertensive disorders (18.7 and 24.6%, respectively), anemia (43.3 and 46.4%, respectively), colpitis (10.0 and 27.5%, respectively), bacterial vaginosis (20.0 and 17.4%, respectively), and the premature rupture of fetal membranes (16.6 and 15.9%, respectively), with the prevalence of at term deliveries (86.7 and 97.1%, respectively; p=0.05), but with an increase in the incidence of the infantile asphyxia in 53.3 and 52.2%, respectively. Cerebral ischemia (40.0 and 36.2%, respectively), congenital developmental anomalies (30.0 and 10.1%, respectively; p=0.01), perinatal hypoxic damage of the central nervous system (23.3 and 5.8%, respectively; p=0.01), neonatal jaundice (23.3 and 4.7%, respectively; p=0.004), and intrauterine pneumonia (10.0 and 5.8%, respectively) prevailed in the structure of neonatal morbidity. Conclusions. Pregnant women are 2.3 times more likely to be infected with COVID-19 in the third trimester compared to the incidence in the second trimester. The course of pregnancy after COVID-19 infection is accompanied by forming placental insufficiency with the development of gestational complications, without affecting the timing of delivery, but increasing the frequency of the need for surgical aids in labor in the manifestation of infection in the third trimester. The incidence of neonatal morbidity increases statistically significantly with the clinical manifestations of COVID-19 infection in mothers in the second trimester.

Giant Thoracolumbosacral Myelomeningocele: A Case Report

AbstractNeural tube defects are a broad spectrum of congenital developmental anomalies that include cranial defects and open and closed spinal dysraphism. Myelomeningocele is a common form of spinal dysraphism most commonly seen in the lumbosacral region. Giant myelomeningoceles are rare occurrences. We hereby present the case of a 7-month-old infant with a history of large swelling over the thoracic lumbar region (circumference of 42 cm and diameter of 12.5 cm) that was progressively increasing in size with occasional cerebrospinal fluid (CSF) leakage from the swelling. There was associated progressive increasing size of the head size circumference (51 cm) as well for the past 6 months. There was no movement of both lower limbs since birth without any sensation up to the groin. On evaluation, the infant was found to have gross hydrocephalous. The Evans index was 0.4 with Chiari 2 malformation and a giant thoracolumbosacral myelomeningocele. The patient underwent a low-pressure ventriculoperitoneal (VP) shunt on the right side, followed by the repair of the giant myelomeningocele. The post-op period was uneventful with no CSF leakage or skin necrosis. The infant was discharged on day 5. Giant myelomeningoceles are quite a challenge for neurosurgeons due to the high risk of skin edge necrosis, CSF leaks, meningoencephalitis, etc. Here we managed our case with utmost intraoperative surgical skills and postoperative management due to which our patient was discharged in a satisfactory condition without any complication. This case is supposed to be largest myelomeningocele in the world literature to date.

Botulinum toxin preparations in complex therapy of infantile cerebral palsy (literature review)

The relevance of the topic is confirmed by statistical data related to primary childhood disabilities, according to which a number of congenital developmental anomalies and disorders of the nervous system are especially common. Cerebral palsy (CP) occupies a leading position in this regard. It is obvious that complex therapy for patients with cerebral palsy is effective, but it is not of economic benefit to the state, which to a certain extent provides support in the rehabilitation of this category of patients. In this connection, budgetary allocations and contributions from insurance companies both in the Russian Federation and other countries are distributed in a rational manner. Botulinum toxin preparations, used in standard clinical practice to combat focal spasticity syndrome in patients with cerebral palsy, have proved to be a feasible and economically beneficial medical technology. A similar therapy strategy has demonstrated a positive clinical effect. It is also the least expensive technology in the medical armamentarium used for the treatment and rehabilitation of patients with infantile cerebral palsy.

Microvascular Flow Ultrasound Imaging for Persistent Fetal Vasculature

Posterior fetal vasculature (PFV) is a congenital developmental anomaly that needs prompt diagnosis and differentiation from retinoblastoma. To determine the utility of microvascular flow imaging (MFI) in diagnosing and characterizing PFV METHODS: All patients diagnosed with PFV between July 2019 and June 2022 were enrolled in the study. There were 6 eyes of 5 patients with PFV that were imaged with MFI. MFI showed a more extensive vascular branching pattern that was not visible on color Doppler in all eyes and modified the classification of PFV. The subtypes of PFV by MFI included 1 eye with Type 1, 3 eyes with Type II, 1 eye with Type III and 1 eye with Type IV. Imaging of PFV patients with MFI could add valuable information on the fibrovascular distribution that can aid in determining the type of PFV.

Anaesthesia Management of Case of Atrial Septal Defect (Cardiac Disease) for Proximal Humerus Fracture (Non-Cardiac Case)

Atrial Septal Defect is most common congenital developmental acyanotic cardiac anomaly. There is left to right shunt of blood in normal compensated state. In decompensated state, the shunt is reversed and flow is from right to left side causing heart failure and thrombo-embolic event. Here, we report a case of Humerus fracture with large ASD, managed under General Anaesthesia with Interscalene block without any deleterious effects like Venous Air Embolism, Spontaneous Reversal of Shunt etc. As patient was in Beach chair position.

Annulling an Annulled Annular Pancreas: A Case Report

Annular Pancreas (AP) is a rare congenital developmental anomaly which results from failure of the ventral bud to rotate to fuse with the dorsal bud, resulting in a ring of pancreatic parenchyma that surrounds the second portion of the duodenum. This rare entity can be partial or complete and the partial is even rarer. Most cases manifest in the infancy but may remain asymptomatic and various nonspecific clinical manifestations are seen in adults. We report a rare case of partial annular pancreas with atrophy of body and tail of pancreas which presented with upper gastrointestinal bleeding and obstruction. The challenge in this case was the annular pancreas was the only functioning pancreatic tissue.

Perineal groove. Cases report and brief review

Perineal groove is a congenital anal anomaly. This skin defect appears next to the anal opening, similar to a cleft, and is covered by a mucous membrane. The anomaly often occurs in girls. Grooves can be detected in patients with normally formed anus or as part of an anorectal malformation with a perineal fistula or anal stenosis. Perineal groove is a congenital anal anomaly.
 This work aimed to provide information for specialists about this congenital developmental anomaly. In our clinic, five girls were observed and diagnosed with perineal groove quite early in their lives (from one to three months of age). Only one required surgical treatment because she had an anorectal malformation with a perineal fistula. In one case, bougienage of the anus was prescribed because stenosis was detected in a timely manner. For the three girls with a normally formed anus, surgery or other types of treatment were not indicated. In other clinics, either long-term courses of conservative local therapy were prescribed for anal fissure or folds in the anus or a diagnosis of anorectal defect was made with indications for surgery. This study also analyzed current publications on the diagnosis and treatment of congenital perineal sulcus.

Duplex collecting system with renal malrotation: an unusual combination

Both duplex collecting system and renal malrotation are congenital developmental anomalies of kidney. They usually present asymptomatic and accidentally diagnosed while patients undergo radiology examinations. We are reporting a case of a 33-year-old-male with a combination of duplex and malrotation kidney. Although these two are common anomalies of kidney, their combination is extremely rare. We found only two reports that had similar combined cases, so our case is the third reported.

ИНТЕРЛЕЙКИН-6 КАК ИНДИКАТОР ТЯЖЕСТИ ПОЛИОРГАННОЙ НЕДОСТАТОЧНОСТИ У НЕДОНОШЕННЫХ ДЕТЕЙ С МАССОЙ ТЕЛА МЕНЕЕ 1500 г: РЕТРОСПЕКТИВНОЕ КОГОРТНОЕ ИССЛЕДОВАНИЕ

Multiple organ dysfunction syndrome (MODS), or multiple organ system failure (MOSF), or multiple organ failure (MOF) in children in the early neonatal period is usually developing against the background of severe birth asphyxia and/or hypoxemia due to various causes (e.g., against the background of critical congenital heart disease) or an infectious process, being one of the main and most frequent reasons for the poor outcome. The level of Interleukin-6 (IL-6) is considered the earliest biomarker for the presence of an infectious process in newborns. The relationship between the level of IL-6 in the blood of premature newborns and the severity of MOF has not been studied enough as yet. The purpose of this research was to study the relationship between the level of IL-6 in the blood and the severity of MOF in premature newborns with a birth weight (BW) of less than 1500 grams in the early neonatal period. Materials and methods used: a single-center retrospective cohort study was conducted in May 26 - September 26, 2022 on the basis of L.A. Vorokhobov Moscow City Clinical Hospital No. 67 of the Moscow Department of Healthcare (located in Moscow, Russia). All of the patients had been followed-up since birth until the discharge from the hospital. Authors have included premature infants with birth weight of less than 1500 grams, gestational age (GA) of less than 32 weeks, with MOF, who were determined by the level of IL-6 in blood serum by high-precision immunochemiluminescent analysis in the first 24 hours and 72 hours of life. Children with severe congenital developmental anomalies, chromosomal and/or genetic syndromes were excluded. Results: a total of 86 preterm infants were included. The patients were divided into 2 groups: G1 of 49 with IL-6<30 pg/ml, and G2 of 37 with IL-6≥30 pg/ml. The groups were identical in terms of gender, BW, GA, height, and the APGAR score. In G2 the premature rupture of amniotic fluid was more common - 6 (12.0%) vs. 15 (41.0%), p=0.005; there were fewer children on non-invasive mechanical ventilation - 15 (31.0%) vs. 3 (8.0%), p=0.015; NEOMOD MOF severity score was higher - 2.0 [1.0; 3.0], (n=47) vs. 3.0 [2.0; 6.0], (n=37), p=0.001; modified inotropic index by the 3rd day of life significantly prevailed - 3.0 [2.0; 5.0], (n=13) vs. 25.5 [19.0; 77.5], (n=12); p=0.001. The average level of IL-6 in G2 was significantly higher on the first day of life and amounted to 121.0 [71.6; 188.0] pg/ml vs. 13.95 [8.79; 17.52] pg/ml in G1; p<0.001. Conclusion: the level of IL-6 of more than 30 pg/ml in the blood of premature newborns with BW of less than 1500 grams in the first 24 hours of life can be considered as an indicator for the MOF severity.

Significance of ultrasound navigation during central venous catheterization in children with scoliotic spinal deformity: a prospective observational single-centre study

BACKGROUND: Surgeries to correct scoliotic spinal deformity (posterior corrective transpediculocorporal fusion) are classified as highly traumatic, are accompanied by significant blood loss, and require reliable venous access. Central vein catheterization is an important part of patient management and is a successful and safe procedure.
 AIM: To evaluate the effectiveness of ultrasound navigation during central venous catheterization in patients with severe and super-severe scoliotic spinal deformity.
 MATERIALS AND METHODS: A single-center prospective study included 52 patients aged 6 to 18 (median age 13.2) years undergoing surgical treatment to correct grade IV scoliotic spinal deformity. Patients underwent catheterization of the internal jugular vein under ultrasound navigation using an ultrasound scanner with a linear sensor and a frequency of 713 MHz. The procedures were performed by one operator. The following were assessed: anatomy of the neurovascular bundle, relative position of the vessels relative to each other, size of the internal jugular vein in a horizontal and Trendelenburg positions, frequency and time of the procedure, and complications during puncture and catheterization.
 RESULTS: In patients with severe scoliotic deformity of the spine, an atypical location of neck vessels was noted in every fifth patient (13.46%). The peculiarity of the location of the vessels was associated with congenital developmental anomalies. The most common anomaly in the location of the vessels relative to each other was the medial location of the internal jugular vein relative to the carotid artery. In one patient, the passage of the internal jugular vein at a considerable distance from the carotid artery was revealed, which made it impossible to puncture according to anatomical landmarks. The average diameter of the internal jugular vein in the horizontal position was 6.20.9 mm. In the Trendelenburg position, the diameter was 9.081.5 mm. The average duration of the procedure was 92 seconds (70). Taking into account the use of ultrasound navigation during catheterization of the internal jugular vein, no early and late complications occurred.
 CONCLUSION: The use of ultrasound navigation for central venous catheterization during surgical treatment of severe and super-severe scoliotic deformities of the spine is a safe and essential method. The Trendelenburg position allows for better visualization of the jugular vein and facilitates its puncture and catheterization. The use of ultrasonography during invasive vascular manipulations allows for minimizing the number of failed catheterizations and avoiding complications, which improves the efficiency of medical care and increases the level of comfort and safety for the patient.

The current state of the problem of myocardial bridges

Myocardial bridge (MB) a congenital developmental anomaly of the coronary arteries (CA), in which the epicardial segment of the vessel passes under the myocardium. With this anomaly, any CA can be affected, but most often it is located in the left anterior descending artery. Most MB is associated with an asymptomatic course, however, in the available scientific literature about the problem of MB, there are a lot of publications describing and proving the relationship between MB and symptoms of myocardial ischemia, including cases of acute coronary syndrome and sudden cardiac death. In this review the authors summarize and present modern data of the frequency, pathophysiological mechanisms, anatomical, functional and clinical evaluation, as well as treatment of MB. Medical treatment is usually an effective therapy in patients with symptomatic MB. If it is ineffective, a comprehensive anatomical and functional assessment of the MM should be carried out to select the safest and most effective revascularization technique. Percutaneous coronary intervention with new generation stent, coronary artery bypass grafting and myotomy are currently being considered as a treatment strategy for MB. The lack of generally accepted recommendations obviously makes it necessary to conduct further research in the field of the problem under consideration in order to develop and validate unified algorithms for the diagnosis and treatment of patients with MB.

Markov State Models and Molecular Dynamics Simulations Reveal the Conformational Transition of the Intrinsically Disordered Hypervariable Region of K-Ras4B to the Ordered Conformation.

K-Ras4B, the most frequently mutated Ras isoform in human tumors, plays a vital part in cell growth, differentiation, and survival. Its tail, the C-terminal hypervariable region (HVR), is involved in anchoring K-Ras4B at the cellular plasma membrane and in isoform-specific protein-protein interactions and signaling. In the inactive guanosine diphosphate-bound state, the intrinsically disordered HVR interacts with the catalytic domain at the effector-binding region, rendering K-Ras4B in its autoinhibited state. Activation releases the HVR from the catalytic domain, with its ensemble favoring an ordered α-helical structure. The large-scale conformational transition of the HVR from the intrinsically disordered to the ordered conformation remains poorly understood. Here, we deploy a computational scheme that integrates a transition path-generation algorithm, extensive molecular dynamics simulation, and Markov state model analysis to investigate the conformational landscape of the HVR transition pathway. Our findings reveal a stepwise pathway for the HVR transition and uncover several key conformational substates along the transition pathway. Importantly, key interactions between the HVR and the catalytic domain are unraveled, highlighting the pathogenesis of K-Ras4B mild mutations in several congenital developmental anomaly syndromes. Together, these findings provide a deeper understanding of the HVR transition mechanism and the regulation of K-Ras4B activity at an atomic level.

Visual outcomes and retinal characteristics in children with myelinated retinal nerve fibers, myopia and amblyopia

Myelinated retinal nerve fibers are a rare congenital developmental anomaly, which may be associated with high myopia and resulting severe amblyopia in unilateral cases. Early detection, refractive correction, and amblyopia treatment can result in improvement of visual function in cases without optic nerve hypoplasia. Limited data regarding macular thickness and lamination are available in such children.

CONGENITAL ARTERIO-VENOUS MALFORMATION OF OPTIC NERVE HEAD- A RARE CASE

Introduction: Retinal arterio-venous malformations (AVMs) are rare, congenital, high-flow congenital developmental vascular anomalies without intervening capillary bed also known as racemose angioma, They are unilateral, nonhereditary lesions located anywhere in retina and may involve optic nerve.
 Case report: A 55 year old male was found to have abnormal congenital arterio-venous malformation over optic nerve head in his left eye, as an incidental clinical finding. He had reported for his routine fundus examination due to diabetes. He had no other relevant systemic findings. Further follow up was advised to see the progression of the lesion and structural damage to optic nerve.
 Discussion: The typical clinical picture, fluorescein angiogram findings, normal MRI brain and orbits, and normal base line blood investigations all points in favour of a congenital arterio-venous malformation. 
 Conclusion: Arterio- venous malformations of Optic nerve head are very rare to find as compared to retinal malformations. This is the first such case report from India.

Relationship Between the Eruption of Third Molar Teeth and the Growing Status of the Assamese Inhabitants of a North-Eastern State of India.

ObjectivesEven though permanent teeth eruption time may vary, the tooth eruption stage represents a critical developmental milestone, which may help in the monitoring of the child's growing status towards adolescence. This paper aims to evaluate the relationship between the third molar eruption (TME) and investigate any possible association with the body mass index (BMI), which is used to monitor the growth of children and adolescents.MethodsWe included 1060 student participants aged 14 to 26 years from selected educational institutions in Assam for this study. We performed a conventional clinical dental examination to determine the stages of TME. Moreover, to calculate the individual height and weight, we have carried out a thorough physical examination to assess the BMI and rule out any visible congenital developmental anomalies.ResultThe overall mean age of the status of no eruption (NE), incomplete eruption (IE), and complete eruption (CE) categories of the third molar in the current research were 17.39±2.273, 18.67±2.282 and 20.33±2.566 years, respectively, and the difference in mean age was statistically significant (p-value <0.05). Among the 1060 participants assessed, 163 (15.38%) were underweight, 625 (58.97%) belonged to the average category, 207 (19.52%) were at risk of being overweight, and 65 (6.13%) were obese. The CE in both average and overweight categories was 109 (17.4%) and 37 (17.9%). Similarly, the NE status of the third molar in the underweight and obese category was 120 (73.6%) and 39 (60.0%), respectively. These differences in the frequency of TME in different BMI categories were found statistically significant (p-value <0.05).ConclusionThe result shows a substantial relationship between the mean age of eruption of third molar teeth and BMI among children and adolescents in 14 years to 26 years in the Assamese population. Further, the mean age can be used in forensic age determination.

A rare case of pancytopenia

Pancytopenia is a reduction in all the three peripheral blood cell lineages and presents as anemia, leukopenia, and thrombocytopenia. Aplastic anemia is pancytopenia with bone marrow hypocellularity. Aplastic anemia can be constitutional or acquired. Genetic diseases such as Fanconi anemia and dyskeratosis congenita usually present as pancytopenia with typical physical anomalies and are usually seen in early childhood. Fanconi anemia is a rare cause of pancytopenia, which is an autosomal recessive disorder and manifests as progressive pancytopenia with congenital developmental anomalies and an increased risk of malignancy. Here, we present a case of Fanconi anemia who presented with pancytopenia, short stature, and hypoplastic thumb of the right hand and was diagnosed on the basis of bone marrow biopsy and chromosomal breakage test.

Imaging Findings of Dextrocardia with Situs Inversus in Covid Positive Patient

Dextrocardia is a rare congenital developmental anomaly where the heart is located in the right hemithorax with the cardiac apex pointing toward the right. Dextrocardia may be associated with total situs inversus or can also present as an isolated finding. We present very rare interesting case of situs inversus totalis in a 68-year-old male patient who came with complaints of difficulty in breathing and had a history of fever for 4 days. In view of the COVID-19 pandemic, he got his real time polymerase chain reaction done and he turned out to be positive. On the imaging dextrocardia with total situs inversus was detected. Even though for a common man, dextrocardia with total situs inversus is only heart on the right side of the body with transposition of the abdominal organs, viscera, and vasculature but from a medical point of view, the diagnosis holds a lot of importance as it is useful in the detection of conditions like appendicitis and abdominal organ injuries.