cystic hygroma

INTRODUCTION AND IMPORTANCE: Cystic hygroma is a benign congenital malformation of lymphatic and blood vessels, with an incidence of 1 in 6000 live births. Most cases are associated with genetic syndromes and can compromise fetal viability. Due to its rarity, comprehensive data is limited, mainly relying on case reports. CASE PRESENTATION: A 21-year-old pregnant woman at 27 weeks' gestation presented to triage with abdominal pain. Abdominal ultrasound revealed a single living female fetus with an estimated fetal weight of 734 g and a complex cystic mass causing hyper-extension of the neck...

Airway management of a pediatric patient with cervical cystic hygroma can be challenging as the large neck mass may extend in the oral cavity, result in tracheal deviation, and cause possible upper airway obstruction. This is a case of a 4-year-old female admitted due to sudden enlargement of neck mass associated with dysphagia and sialorrhea. Patient was intubated under sedation while maintaining spontaneous ventilation with a pediatric flexible fiberoptic scope through a nasopharyngeal airway serving as a passage guide for ease of scoping and a protective device against trauma...

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non-immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c...

INTRODUCTION: Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. CASE PRESENTATION: The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress...

Lymphatic malformations frequently present as benign masses in the neck and clavicle region among infants and young children. Cystic hygroma represents an often-encountered form of lymphatic malformation. This case report details the medical history of a one-year-old girl characterized by a multifaceted medical background, initially exhibiting symptoms of persistent cough, cold, and neck swelling. Further investigations revealed more severe conditions: complex congenital heart defects, including large atrial septal defect (ASD), large ventricular septal defect (VSD), and aorta arising from the right ventricle with cystic hygroma and annular pancreas...

BACKGROUND: The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was used to investigate the characteristics of cell subsets in the lesion tissues of CH patients. METHODS: Lymphoid tissue collected from CH patients and control donors for scRNA-seq analysis. Differentially expressed gene enrichment in major cell subpopulations as well as cell-cell communication were analyzed...

PURPOSE: Lymphangiomas are benign hamartomas in the spectrum of lymphatic malformations, exhibiting multifaceted clinical features. Spinal involvement is exceedingly rare, with only 35 cases reported to date. Both due to their rarity and chameleonic radiologic features, spinal lymphangiomas (SLs) are usually misdiagnosed; postoperatively, surgeons are thus confronted with an unexpected histopathological diagnosis with sparse pertinent literature and no treatment guidelines available. METHODS: Here, we report the case of a 67-year-old female who underwent surgery for a T6-T7 epidural SL with transforaminal extension, manifesting with spastic paraparesis...

Introduction CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to gain awareness that the antenatal characteristics can be very nonspecific. Case Presentation This was a retrospective study of 13 cases with CHARGE syndrome diagnosed by prenatal or postnatal genetic testing and physical examination. Two (15.4%; 2/13) had normal ultrasound scans during pregnancy. One (7.7%; 1/13) with first-trimester cystic hygroma presented intrauterine fetal demise (IUFD) at 16 weeks gestation...

Cystic hygroma of the neck, a congenital benign tumor of the lymphatic system, is a potential cause of neonatal airway obstruction leading to stridor. Meticulous airway evaluation, case appropriate preparation, and use of advanced technology, including videolaryngoscope and ultrasonography, can facilitate the safe management of the difficult airway.

Cystic hygromas detected prenatally usually have a poor prognosis; hence, a correct and early diagnosis is essential. A prenatal ultrasound may detect a cystic hygroma as early as 10 weeks of gestation. Knowledge of the imaging findings and prognostic factors is necessary for effective perinatal counseling. Nuchal cystic hygromas (NCHs) in fetuses present a rare and challenging medical situation for prenatal care providers. This case report aims to describe a particular case of NCH detected through routine prenatal ultrasound, emphasizing the diagnostic demanding situations, management decisions, and final results...

Congenital myopathies are a genetically heterogeneous group of neuromuscular disorders that commonly present with congenital hypotonia and weakness but can also present broadly. The most severe presentation is neonatal with arthrogryposis and, rarely, fetal akinesia and pterygia, features also seen in lethal multiple pterygium syndrome (LMPS). We describe two fetuses with similar phenotype, including hydrops fetalis, large cystic hygromas, bilateral talipes, and fetal akinesia in the second trimester. Genetic diagnoses were made using exome sequencing...

A late adolescent primigravida was found to have a fetus with a cystic hygroma and significant shortening of the limbs on first-trimester ultrasound. She underwent chorionic villus sampling with normal microarray result. In the early second trimester, the fetus was found to have the absence of all four limbs and a thorough skeletal dysplasia workup was pursued, identifying a variant in the FLNB gene (c.62C>G). The patient underwent termination of pregnancy. The care of this patient was expedited by first-trimester sonographic evidence of limb abnormalities enabling timely clinical management...

A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo-/akinesia, arthrogryposis, contractures and limb deformities, hydrops fetalis and cystic hygroma. An additional truncating variant was identified in CSPP1 associated with Joubert syndrome...

INTRODUCTION AND IMPORTANCE: Cystic hygromas are congenital lymphangiomas that arise from a developmental anomaly in the lymphatic system. Typically detected in early childhood, their incidence in adolescents and at the chest wall or axillary area is rare. CASE PRESENTATION: We report two cases, a 14-year-old male child (Case I) and a 1-year-old male infant (Case II), who presented with swelling in unusual locations, the right axillary region and the right anterolateral chest wall respectively...

Birth abnormalities affecting the lymphatic system include cystic lymphangiomas. They are rare in adults and typically happen in childhood. The cause of adult cystic hygroma (CH), which has a benign nature, is yet unknown. Seventy-five percent of lymphatic malformations have a CH as their primary site of origin in the head and neck area. We describe a 36-year-old female case of cervical cystic lymphangioma who complained of swelling on the left side of her neck for two years. There was no prior history of fever, trauma, weight loss, appetite loss, discharge, or swallowing difficulties...

Lymphangioma, also known as cystic hygroma are benign malformations arising from abnormal development of the lymphatic system. Most often these lesions are found in the pediatric population, having a predilection for the neck/axilla, and are less common in extremities. Symptoms can vary based on size and location. Treatment is not usually indicated until they start impacting life due to deformity or symptoms such as pain, paraesthesia, etc. Here, we report a case report of lymphangioma located in the calf region of the right lower limb presenting in adult age...

BACKGROUND: Most of abortions occur before the 13th week of pregnancy. Nowadays, non-surgical approaches for evacuation of uterine have been replaced with surgical ones due to the reduction in bleeding, fewer complications, ease of management, and cost-effectiveness. Misoprostol is a prostaglandin E1 analog that is used for labor induction. It is known as a safe drug with very few side effects. CASE PRESENTATION: A 29-year-old woman with the gestational age of 11 weeks and 6 days with a diagnosis of cystic hygroma introduced herself to the labor ward...

Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live births. GBE deficiency leads to an excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues (liver, skeletal muscle, heart, nervous system, etc...

BACKGROUND:  Cystic hygroma is a congenital lymphatic malformation. It may present as a huge mass in the neck, jeopardizing airway patency and prolonging intubation time, resulting in hypoventilation and hypoxemia. We used a high-flow nasal cannula to decrease the risk of hypoxemia and provide anesthesiologists sufficient time to perform tracheal intubation in young infants. CASE PRESENTATION: A 33-day-old infant (height, 55 cm; weight, 5.05 kg) was diagnosed with macro-cystic hygroma of the right neck...

Noonan syndrome (NS) is a common clinical variable disease characterized by a number of features, mainly including congenital heart defects, short stature, and a variable degree of developmental delay. This disorder is transmitted mostly in an autosomal dominant manner and is genetically heterogeneous. We report three prenatal cases of LZTR1-related recessive NS. One case had a recurrent cystic hygroma at 13 weeks gestation and the pregnancy was terminated. Two cases had an increased nuchal translucency at 12 weeks' gestation, but a normal second trimester ultrasound; both presented with hypertrophic cardiomyopathy in the third trimester...