Case Of Malformation Research Articles

A Case of Laryngeal Vascular Malformation Treated by Sclerotherapy and Transoral Surgery

It is difficult to treat laryngeal vascular malformations because of airway problems, bleeding, etc. A variety of treatments have also been described, including direct laryngoscopic excision, excision through an external incision, laser surgery, and sclerotherapy. As important goals of treatment, preservation of the laryngeal functions, such as voice and swallowing functions is important, as this condition is a benign one.

Posterior Sagittal Approach for Nonanorectal Malformation: Widening Spectrum.

Posterior sagittal is a very well accepted approach in the treatment of anorectal malformations. This approach provides good access and exposure through the perineum to the deep pelvic structures. It reduces risk of injury to important structures as dissection remains in midline. To access feasibility of posterior sagittal approach for non-anorectal malformation indications and to widen the spectrum. We present a series of 10 cases of non-anorectal malformations operated by this approach for 4 years. Six patients included in the study were of Disorders of Sexual Differentiation with pseudovagina, three of Y duplication of the urethra, and one of cervical atresia. All patients had good results. Posterior sagittal approach is feasible, safe with minimal bleeding, and no postoperative incontinence. It can safely be used for non-anorectal indications.

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.

P184: A case of multiple hemangiomas and arteriovenous malformations in a patient with known Greig cephalopolysyndactyly syndrome

P184: A case of multiple hemangiomas and arteriovenous malformations in a patient with known Greig cephalopolysyndactyly syndrome

Infectious Pneumonitis Revealing an Anal Imperforation with Recto-Vaginal Fistula: A Case of Late Discovery in a 70-Year-Old Woman

Introduction: Anorectal malformations concern all anomalies of the terminal part of the digestive tract often diagnosed in the perinatal period. We report a clinical case of anorectal malformation discovered incidentally and very late at 70 years, following complications from the infectious syndrome. Observation: 70-year-old female patient, housewife, uneducated was referred to the hospital for acute febrile, cough, and mental confusion associated with chronic pelvic pain. The genito-anal examination showed an anal imperforation associated with a recto-vaginal fistula complicated by cervico-vaginitis. The evolution during hospitalization was favorable, but the patient died at home, 3 weeks after discharge. Conclusion: The discovery of anorectal malformation in adults is rare and exceptional in an elderly subject. This case demonstrates once again the challenges encountered in developing countries on the socio-economic and health levels.

A Case of Laryngeal Venous Malformation Successfully Treated with Keishibukuryogan and Daiokanzoto

A Case of Laryngeal Venous Malformation Successfully Treated with Keishibukuryogan and Daiokanzoto

КОНЦЕПЦИЯ КЛИНИКО-ЭПИДЕМИОЛОГИЧЕСКОГО ПОДХОДА В ИЗУЧЕНИИ ВРОЖДЕННЫХ ПОРОКОВ РАЗВИТИЯ

The study aims to determine the main directions of the concept of a comprehensive clinical and epidemiological study of malformations in children living on the territory of one of the centers of the chemical industry of the Siberian Federal District in order to improve a multi–level program for their prevention. A comprehensive retrospective analytical study of the results of the Omsk long-term monitoring of all cases of malformations in children and fetuses was conducted, as well as an analysis of domestic and foreign literature on terminology, classification, epidemiology, and prevention of a wide range of congenital malformations. The analytical review revealed numerous aspects of the problem of congenital malformations, ranging from issues of terminology, classification, and registration to the lack of comprehensive, region-oriented, and personalized strategies for their prevention. The authors present the main aspects of the multidisciplinary problem of congenital malformations and offer solutions. The importance of primary prevention of malformations is emphasized, as is the interaction of pediatricians with geneticists, epidemiologists, hygienists, and teachers in children’s educational institutions.

Unilateral hyperkeratotic dark plaques covering the entire right lower extremity: A rare entity

Verrucous venocapillary malformation, formerly known as verrucous hemangioma, presents itself as single or multiple, well-demarcated, erythematous plaques that eventually acquire hyperkeratinization, oozing, bleeding and become thicker and darker over time. We report a case of verrucous venocapillary malformation in 33-year old woman referred to the dermatology outpatient clinic with the complaint of hyperkeratotic plaques covering the entire right leg and thigh, present since birth.

Glomus Venous malformation of the skin of the left ankle-foot joint: a clinical case and review of the literature

Annotation. The work presents a clinical and histological description of a case of glomuvenous malformation and a review of modern data on the diagnosis and treatment of this disease. A case of diagnosis of glomuvenous malformation on the foot of the right lower limb in a 46-year-old man was analysed. The case was characterized by an uncertain dermatological status with the need to exclude malignant neoplasia of the skin. Considering doubts about the benign nature of the skin lesion, the patient was recommended to undergo a therapeutic and diagnostic biopsy. After a medical-diagnostic biopsy, histological sections showed skin with moderate hyperparakeratosis of the epidermis and a clearly delineated, non-encapsulated formation in the dermis. The tumour is represented by numerous vascular channels of the venous type of small and medium caliber, some of which have an enlarged lumen and a thickened wall, filled with erythrocytes. Clusters, chains, and fields of monomorphic glomus cells with weakly expressed eosinophilic cytoplasm and rounded nuclei with finely dispersed chromatin are located perivascularly, without atypia. Mitotic figures are absent. The intercellular stroma is sclerosed with focal oedema. Considering the results obtained by us and the data of modern studies, we can state the ambiguity of views on the diagnosis of glomuvenous malformation with the need for more aggressive diagnostic and therapeutic tactics in adults. The development of an algorithm for the management of adult patients with glomuvenous malformation of the skin is a prospect for further research.

Prenatally diagnosed fetal thoraco-lumbar spine duplication associated with lipomyelomeningocele: An extremely rare case of split cord malformation.

Spine duplication is considered rare, a more serious form of split cord malformation. Ultrasonographic evaluation of the spine in the second trimester is central to the antenatal diagnosis of spinal malformations. Here, we report a case of thoraco-lumbar spine duplication associated with lipomyelomeningocele diagnosed by ultrasonography at 19 weeks of gestation. To the best of our knowledge, this is the first case report of spine duplication diagnosed by antenatal ultrasonography.

Immunoexpression of proliferation and apoptosis markers in oral vascular anomalies.

The biological behavior of lesions is highly dependent on the imbalance between their proliferative and apoptotic capacity. This study evaluated a correlation between the proliferative and apoptotic rates of different oral vascular anomalies (VAs) by analyzing the immunoexpression of proliferation (Ki-67) and apoptosis (Bcl-2 and Bax) markers in endothelial cells of 20 cases of GLUT-1 positive infantile hemangiomas (IHs), 20 cases of pyogenic granulomas (PGs) and 20 cases of vascular malformations (VMs). Immunoexpression analysis of Ki-67, Bcl-2 and Bax revealed a lower median percentage of positive cells in VMs cases compared to IHs and PGs cases (P <0.001). The Wilcoxon signed-rank test showed significantly higher percentages of immunostaining for Bax than for Bcl-2 in IHs (P = 0.048). In the group of PGs, a positive correlation was observed between the immunoexpressions of Ki-67 and Bax (r = 0.476; P = 0.034). Although oral IHs, PGs and VMs present similar clinical and histopathological features, each of these lesions has its etiopathogenic particularities. The results of this study suggest that different biological behaviors of VAs may be related to differences in the proliferative and apoptotic profiles of their endothelial cells.

Association between Genitourinary and Congenital Heart Defects: A 52-year Case-Control Study of the Latin American Collaborative Study of Congenital Malformations (ECLAMC)

Abstract Background Congenital urological anomalies are present in 4.3/10 thousand newborns, and their association with other anomalies may increase the overall mortality and disability. The present study establishes the risk of having congenital urological anomalies presenting associated cardiopathies. Methods We conducted a retrospective case-control study using the Latin American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, ECLAMC, in Spanish). The analysis included all registered cases of congenital urological malformation from 1967 to 2019. Patients with or without associated heart defects were included for the statistical analysis. Odds ratios (ORs) were calculated using a 95% confidence interval (95% CI). We compared the variables with the Chi-squared test and analysis of variance (ANOVA). The statistical analysis was performed using the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 27.0. Values of p &lt; 0.05 were considered statistically significant. Results A total of 7,767,161 newborns were evaluated, and 17,834 genital and upper urinary tract malformations were identified. Of these, 64.2% were genital anomalies, and 35.8% were abnormalities of the upper urinary tract. Genitourinary malformations and concomitant congenital heart defects (GU + C) were observed in 3.5% of the cases. Subjects with GU + C had a higher number of malformations (4.59 ± 2.3) than patients without heart defects (1.53 ± 1.58) (p &lt; 0.000). The OR was of 3.61 (range: 1.86–7.00) for cloacal exstrophy, of 4.01 (range: 3.14–5.12) for imperforate anus, of 5.52 (range: 3.92–7.78) for horseshoe kidney, and of 13.7 (range: 6.65–28.22) for trisomy 21 (Down syndrome) with malformations of the upper urinary tract. Conclusion The association of congenital heart defects with urological anomalies is higher for complex congenital anomalies such as imperforate anus, cloacal exstrophy, and horseshoe kidney. Patients with urological abnormalities and Down syndrome have the highest likelihood.

PEDIATRIC SPINAL DYSRAPHISM ON MAGNETIC RESONANCE IMAGING: TRENDS IN A TERTIARY CARE HOSPITAL IN NORTH INDIA

Background: Spine and spinal cord development is governed by intricate genetic mechanisms and any deviation from the normal embryological cascade during 2-6 gestational weeks causes imperfect fusion of midline mesenchymal, bony and neural structures causing spinal dysraphism. Imaging plays a pivotal role in their evaluation as many patients present with concurrent anomalies that need to be corrected simultaneously to avoid repeat surgeries. To demonstrate the spectrum of MRI ndings of spinal dysraphi Aim: Settings and design: sm. A cross sectional observational study was done in 36 pediatric patients with known or suspected spinal dysraphism on 3T MRI. MRI was Materials And Methods: performed using Siemens Skyra 3T MRI. In this study comprising of 36 patients, mean age Results: was 37.1months (3 years 1month) with minimum age of 4 days and maximum age of 18 years. Children of age less than 5 years were maximally affected. A female predominance was noted with male: female ratio of 0.9:1. Open spinal dysraphism (55.6%) was more common than closed dysraphism (44.4%). The most common dysraphism was myelomeningocele. Among open dysraphism, we also encountered 1 case each of hemimyelomeningocele and myelocele. Among closed defects, split cord malformation was most common (19.4%) as it was present with other dysraphic defects (called complex spina bida), followed by lipomyelocele (11.1%) and dermal sinus (11.1%). Among 7 cases of split cord malformation, type II (6 cases; 85.7%) was more common than type I (1 case; 14.3%). Other cases of closed dysraphism were lipomyelomeningocele, meningocele, terminal myelocystocele, intradural lipoma, lar lipoma and caudal regression syndrome. MRI is an excelle Conclusion: nt modality for dening the characteristic imaging features of each dysraphism to give a composite diagnosis.

A Multi-Disciplinary Management of a Rare Case of a Complete Lung Congenital Pulmonary Airway Malformation in a Newborn from a Developing Country

A Multi-Disciplinary Management of a Rare Case of a Complete Lung Congenital Pulmonary Airway Malformation in a Newborn from a Developing Country

Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation.

Microdeletions and microduplications are involved in many of prenatal and postnatal cases of multiple congenital malformations (MCM), developmental delay/intellectual disability (DD/ID), and autism spectrum disorders (ASD). Molecular karyotyping analysis (MCA), performed by DNA microarray technology, is a valuable method used to elucidate the ethology of these clinical expressions, essentially contributing to the diagnosis of rare genetic diseases produced by DNA copy number variations (CNVs). MCA is frequently used as the first-tier cytogenetic diagnostic test for patients with MCM, DD/ID, or ASD due to its much higher resolution (≥10×) for detecting microdeletions and microduplications than classic cytogenetic analysis by G-banded karyotyping. Therefore, MCA can detect about 10% pathogenic genomic imbalances more than G-banded karyotyping alone. In addition, MCA using the Single Nucleotide Polymorphism-array (SNP-array) method also allows highlighting the regions of loss of heterozygosity and uniparental disomy, which are the basis of some genetic syndromes. We presented a case of a five-year-old patient, with global development delay, bilateral fronto-parietal lysencephaly, and pachygyria, for which MCA through SNP-Array led to the detection of the genetic changes, such as 3p26.3p24.3 microduplication and 4q34.3q35.2 microdeletion, which were the basis of the patient's phenotype and to the precise establishment of the diagnosis.

Analysis of clinical features of 380 cases of special portal hypertension-Abernethy malformation

Objective: To summarize the clinical features of special portal hypertension-Abernethy malformation reported at home and abroad. Methods: The relevant literature on Abernethy malformation published at home and abroad from January 1989 to August 2021 was collected. Patients'clinical features, imaging and laboratory test results, diagnosis, treatment, and prognosis were analyzed. Results: A total of 380 cases were included from 60 and 202 domestic and foreign literatures. Among them, there were 200 cases of type I, with 86 males and 114 females, and the average age was (17.08±19.42) years, while there were 180 cases of type II, with 106 males and 74 females, and the average was (14.85±19.60) years. The most common reason for the first visit of an Abernethy malformation patient's was gastrointestinal system symptoms such as hematemesis and hematochezia caused by portal hypertension (70.56%). Multiple malformations were present in 45.00% of type Ⅰ and 37.80% of type Ⅱ patients. The most prevalent condition was congenital heart disease (62.22%, and 73.53%). Complications related to Abernethy malformation was occurred in 127 and 105 cases with type I and type II, respectively, with liver lesions in 74.02% (94/127) and 39.05% (42/105) and hepatopulmonary syndrome of 33.07% (42/127) and 39.05% (41/105), respectively. The imaging diagnosis of type I and type II Abernethy malformations were mainly based on abdominal computed tomography (59.00%, and 76.11%). Liver pathology was performed in 27.10% of patients. Blood ammonia increased by 89.06% and 87.50%, and AFP increased by 29.63% and 40.00% in laboratory findings. 9.76% (8/82) and 6.92% (9/130) died, while 84.15% (61/82) and 88.46% (115/130) had improved conditions after medical conservative, or surgical treatment. Conclusion: Abernethy malformation is a rare disease in which congenital portal vein development abnormalities lead to significant portal hypertension and portasystemtic shunt. Patients often seek medical treatment for gastrointestinal bleeding and abdominal pain. Type Ⅰ is more common in women, often associated with multiple malformations, and prone to secondary intrahepatic tumors. Liver transplantation is the main treatment method. Type Ⅱ is more prevalent in males, and shunt vessel occlusion is the first treatment choice. Overall, type Ⅱ has a better therapeutic impact than type Ⅰ.

Credulity of exploratory trials for cerebral cavernous malformations

Cerebral cavernous malformations are vascular lesions that affect approximately 0·3% of the population and can cause haemorrhage, seizures, and neurological deficits. Familial cases with autosomal dominant disease, cases of symptomatic cerebral cavernous malformation, and cases with recent haemorrhage meet rare disease criteria according to regulatory agencies in the USA and EU. To date, the only treatment for people with cerebral cavernous malformations is resection of a symptomatic lesion or radiosurgery, but there is scant evidence of the effectiveness of these approaches, which can be associated with substantial morbidity.

Endometrial Serous Adenocarcinoma with Septate Uterus: A Rare Case Report

Abstract Introduction/Objective Congenital structural malformations of the uterus rarely coincide with uterine malignancies and can cause significant challenges to the detection of tumors originating from the uterine cavity. We report a case of delayed diagnosis of endometrial high-grade serous adenocarcinoma following an initial false-negative endometrial biopsy result. A septate uterus was discovered incidentally upon gross dissection, and it was recognized as the cause of the initial false-negative biopsy result. Exceptionally rare cases of uterine malformation combined with carcinoma have been reported in the literature and we are sharing this case to provide further awareness of such clinical scenario. Methods/Case Report A 67- year-old multigravida (G3P2103) female presented with postmenopausal bleeding. Initially, the patient underwent an endometrial biopsy revealing strips of benign glandular epithelium. Three months later endometrial biopsy showed high-grade serous carcinoma. A computed tomography scan (CT) of the abdomen and pelvis showed expanded and heterogeneously hypodense endometrium. The patient underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy. Gross examination of the specimen revealed a septate uterus with two cavities. Within the right cavity, there was an infiltrating polypoid mass and a superficial benign-appearing endometrial polyp was identified in the left cavity. After histologic examination of the right cavity mass, a diagnosis of endometrial high-grade serous adenocarcinoma was rendered. Results (if a Case Study enter NA) N/A Conclusion Congenital structural malformations of the uterus carry a higher risk of delayed or missed uterine cancer diagnosis. Septate uterus is associated with a higher chance of failed endometrial biopsy and can result in a false- negative outcome. The use of hysteroscopy, hysterosonography, and three-dimensional ultrasound could improve the diagnostic modality of malignant uterine tumors associated with structural malformations.

A 5 YEAR-OLD BOY WITH ATYPICAL UPPER LIP SWELLING

<h3>Introduction</h3> Lip swelling is a common chief complaint in the allergy clinic, but not all swelling is angioedema. Clinicians should keep their differential diagnoses broad when evaluating these patients. This is a case of lymphatic malformation (LM) in a boy with atypical upper lip swelling. <h3>Case Description</h3> A 5-year-old boy with a past medical history of asthma, tree nut allergy, allergic rhinitis, and atopic dermatitis presented for evaluation of persistent upper lip and maxillary gingival swelling. His lip swelling started suddenly and persisted for two years. The family reported intermittent "white fluid" drainage from the affected gingiva. Physical examination showed diffuse upper lip swelling and maxillary gingival swelling. Given his clinical history, his family and pediatrician attributed this swelling to an allergic reaction. He reported no improvement with daily antihistamines, but he did experience transient improvement with oral steroids. Contrast enhanced facial MRI was nonspecific, demonstrating a poorly defined area of mucosal thickening involving the upper lip and anterior maxillary alveolar ridge. He was evaluated by pediatric ENT who referred him to pediatric neurointerventional radiology for suspicion of LM. An ultrasound demonstrated a microcystic LM, notable for tiny anechoic areas without internal flow in the superior lip. The parents are considering definitive diagnosis with a biopsy and treatment options such as sclerotherapy. <h3>Conclusion</h3> LMs can be misdiagnosed as angioedema and should be considered in the differential diagnoses in patients with atypical lip swelling. Contrast enhanced MRI and ultrasound with color Doppler imaging are the recommended imaging modalities for evaluation.

Interstitial bleomycin sclerotherapy in children with vascular malformations: Our initial experience in Hong Kong

AbstractBackgroundVascular malformations represent a wide spectrum of disorders in children. Recently, interstitial bleomycin sclerotherapy has been shown to be a safe and effective treatment for selected cases of vascular malformation in children and adults.AimTo evaluate the short‐term outcome and safety of interstitial bleomycin sclerotherapy in children with vascular malformations.MethodsThis is a retrospective study in which patients under 18 years old with vascular malformation undergoing bleomycin sclerotherapy between August 2019 and January 2022 in Hong Kong were included. Relevant demographics of the included patients were collected. Short‐term outcomes including clinical response, immediate and early complications were evaluated.ResultsFour patients who aged from 4 to 8 years old were identified, three with lymphatic malformation and one with arteriovenous malformation. A total of eight sessions of interstitial bleomycin sclerotherapy were performed. Three of them reported clinical response with either reduction in lesion size or reduction in discomfort or disfigurement. No immediate complication was reported. However, one of them experienced post‐operative hyperpigmentation with scratch marks.ConclusionThe experience in the use of interstitial bleomycin sclerotherapy in children with vascular malformations is still limited in our locality. Further study with larger cohorts and longer follow‐up is required to further establish its efficacy and safety profile in paediatric patients.