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OBJECTIVES: To evaluate the prevalence of chromosomal anomalies in fetuses affected by increased nuchal translucency(iNT >99Th centile), cystic hygroma (CH) and cases progressing to fetal hydrops (NIHF) in order to correlate this result to prognosis and perinatal fetal outcomes, improving patient's counseling. METHODS: From January 2020 to December 2023, first trimester screening according to FMF criteria were performed in "Maternal fetal medicine Unit" of Foggia's hospital. We studied and collected clinical data of fetuses affected by nuchal translucency >99th centile (iNT), CH and cases progressing to Fetal Hydrops (non-immune fetal hydrop, NIFH). In these selected cases, we evaluated fetal Karyotype to demonstrate the presence of chromosomal abnormalities, associated to fetal structural anomalies and different pregnancy outcome. RESULTS: We have evaluated 45 cases of iNT, CH, and NIFH, identified by ultrasound during first trimester screening. Of these 45 pregnant women, four were lost to follow-up. Of the 41 pregnancies, 20 cases (48.8%) delivered at our division with newborns discharged in good health. Of the 21 patients (51.2%) who miscarried, only two miscarried spontaneously; the other 19 decided on a medical termination of pregnancy (MTP). The 19 patients who decided for MTP showed genetic abnormalities and/or malformation. The 20 cases of fetuses discharged as healthy newborns were enrolled with the following diagnoses: 5 had a diagnosis of CH (20% of cases), 1 case of NIFH (5% of cases), and 14 of iNT (75% of cases). All these fetuses had a normal karyotype and no major malformations. CONCLUSIONS: Isolated CH diagnosis is more frequent than described in Literature (5 cases out of 12: 41.7%) and their prognosis are better than previously described, with the same outcomes of fetuses with iNT without associated anomalies. The possibility of early diagnosis of chromosomal anomalies, associated malformations or the evolution into hydrops is essential for a complete consultation.

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BACKGROUNDS: Manifestation of cystic hygroma in adulthood is very rare. The rarity of cystic hygroma in adults has caused problems in its diagnosis and management and few studies have reported cystic hygroma in adults. CASE PRESENTATION: In this study, we reported a rare case with cervical cystic hygroma in adults. We report a 20-year-old Iranian male (Iranian ethnicity) with a diagnosis of right-side neck cystic hygroma and discuss the presentation, diagnosis, and clinical, radiological, and operative aspects of it. CONCLUSION: Cystic hygromas are a rare occurrence in adults. They are typically asymptomatic, rarely complicated, and can be mistaken for a cystic neck mass. This study showed that in our case, surgical resection may be a safe and effective treatment for cystic hygroma, with minimal risk of complications during the procedure.

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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.

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Cystic Hygroma (CH) also referred to as lymphangioma, is a cystic malformation of the lymphatic vessels that can occur anywhere in the body. Its incidence in adulthood is considered rare and its occurrence in the neck is even rarer and only a few case reports are available till date. We present a case of adult CH of the neck and the literature review of the same. A 30-year-old male presented with painless swelling in the left side of the neck of 2 years duration. Investigations showed a cystic mass on the left lower anterior part of the neck which was surgically removed in-toto with the intact capsule. The biopsy report confirmed the diagnosis. A differential diagnosis of CH should be considered when a cystic lesion is encountered in the neck of an adult, cytological and radiological evaluation is necessary for defining its location and diagnosis. Although various conservative modalities of management are available, they are employed only in certain situations, and surgical excision of CH is considered the gold standard. The chances of recurrence range from 15 to 20%.

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Persistent hydrocephalus is common in children after resection of posterior fossa tumours. However, occurrence of subdural hygroma is very rare. We report the case of a 14-month-old child who presented at a paediatric neurology clinic in Muscat, Oman in 2021 who developed a tense subdural hygroma with stable hydrocephalus, in the early postoperative period, following posterior fossa tumour resection. We describe the distinctive clinical, radiological and pathological features associated with the development of a tense subdural hygroma. We also discuss the management by cerebrospinal fluid diversion, which includes either a ventriculoperitoneal or subduroperitoneal shunt. This unique condition is distinguished from external hydrocephalus by features that are critical to the management strategy.

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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.

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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. At the same time, the expression and interactions of important VEGF signaling pathway molecules were analyzed, and potential transcription factors that could bind to KDR (VEGFR2) were predicted. RESULTS: The results of scRNA-seq showed that fibroblasts accounted for the largest proportion in the lymphatic lesions of CH patients. There was a significant increase in the proportion of lymphatic endothelial cell subsets between the cases and controls. The VEGF signaling pathway is enriched in lymphatic endothelial cells and participates in the regulation of cell-cell communication between lymphatic endothelial cells and other cells. The key regulatory gene KDR in the VEGF signaling pathway is highly expressed in CH patients and interacts with other differentially expressed EDN1, TAGLN, and CLDN5 Finally, we found that STAT1 could bind to the KDR promoter region, which may play an important role in promoting KDR up-regulation. CONCLUSION: Our comprehensive delineation of the cellular composition in tumor tissues of CH patients using single-cell RNA-sequencing identified the enrichment of lymphatic endothelial cells in CH and highlighted the activation of the VEGF signaling pathway in lymphoid endothelial cells as a potential modulator. The molecular and cellular pathogenesis of fetal cystic hygroma (CH) remains largely unknown. This study examined the distribution and gene expression signature of each cell subpopulation and the possible role of VEGF signaling in lymphatic endothelial cells in regulating the progression of CH by single-cell transcriptome sequencing. The enrichment of lymphatic endothelial cells in CH and the activation of the VEGF signaling pathway in lymphatic endothelial cells provide some clues to the pathogenesis of CH from the perspective of cell subpopulations.

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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. Then, we present the results of the first systematic review of the literature on this subject, delineating the clinical and imaging features and the therapeutic implications of this rare disease entity. Results: Our patient was treated with T6-T7 hemilaminectomy and resection of the epidural mass, with complete recovery of her neurological picture. No recurrence was evident at 18 months. In the literature, 35 cases of SL were reported that can be classified as vertebral SL (n = 18), epidural SL (n = 10), intradural SL (n = 3), or intrathoracic lymphangiomas with secondary spinal involvement (n = 4). Specific treatment strategies (both surgical and nonsurgical) were adopted in relation to each of these categories. Conclusion: Gathering knowledge about SL is fundamental to promote both correct preoperative identification and appropriate perioperative management of this rare disease entity. By reviewing the literature and discussing an exemplary case, we delineate a framework that can guide surgeons facing such an unfamiliar diagnosis.

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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. The patient underwent various diagnostic tests, including chest X-rays, ultrasound, magnetic resonance imaging (MRI), and computed tomography pulmonary angiogram (CTPA), leading to multidisciplinary treatment involving sclerotherapy for cystic hygroma and supportive therapies. The case underscores the challenges in diagnosing and managing pediatric patients with overlapping conditions and the critical need for continuous follow-up.

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INTRODUCTION: Bone flap replacement after a decompressive craniectomy is a low complexity procedure, but with complications that can negatively impact the patient's outcome. A better knowledge of the risk factors for these complications could reduce their incidence. PATIENTS AND METHODS: A retrospective review of a series of 50 patients who underwent bone replacement after decompressive craniectomy at a tertiary center over a 10-year period was performed. Those clinical variables related to complications after replacement were recorded and their risk factors were analyzed. RESULTS: A total of 18 patients (36%) presented complications after bone flap replacement, of which 10 (55.5%) required a new surgery for their treatment. Most of the replacements (95%) were performed in the first 90 days after the craniectomy, with a tendency to present more complications compared to the subsequent period (37.8% vs 20%, p > 0.05). The most frequent complication was subdural hygroma, which appeared later than infection, the second most frequent complication. The need for ventricular drainage or tracheostomy and the mean time on mechanical ventilation, ICU admission, or waiting until bone replacement were greater in patients who presented post-replacement complications. Previous infections outside the nervous system or the surgical wound was the only risk factor for post-bone flap replacement complications (p = 0.031). CONCLUSIONS: Postoperative complications were recorded in more than a third of the patients who underwent cranial bone flap replacement, and at least half of them required a new surgery. A specific protocol aimed at controlling previous infections could reduce the risk of complications and help establish the optimal time for cranial bone flap replacement.

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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. Local examination findings were indicative of a cystic hygroma in the first case, while in the second case, characteristic transillumination was not seen due to a complication: hemorrhage within the cyst. The diagnoses were established after a correlation of the patient's history, and clinical findings with radiological investigations. Both underwent surgical intervention and had no complications. Histopathology of the post-operative specimens confirmed the diagnoses. DISCUSSION: The diagnosis of cystic hygroma is made in the totality of thorough history taking, clinical examination, and radiological and histopathological investigations. Though most cases typically manifest before the age of two years and in the cervicofacial area, unusual locations and delayed presentation can occur. Surgical excision is a safe and effective treatment modality for these lesions. CONCLUSION: Although a rare entity, cystic hygroma should be considered a possible differential diagnosis of any swelling in the pediatric population.

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OBJECTIVE: This study is a systematic review and meta-analysis of the efficacy and safety of sirolimus in the management of pediatric cervicofacial lymphatic malformations (LMs). DATA SOURCES: EMBASE, Medline, Scopus, and Cochrane databases were searched, along with the reference list of all included articles. REVIEW METHODS: The study protocol was registered with PROSPERO and a systematic literature search strategy was designed and conducted with the aid of a medical librarian. All studies including case reports were included, with pooled analysis of raw data. A meta-analysis was conducted of magnetic resonance imaging (MRI), clinical, and airway outcomes. RESULTS: Thirteen case series and five individual case reports were included. Meta-analysis showed 78% (95% CI 57%-94%) of 62 patients had a reduction in LM volume, on MRI criteria, by 20% or more, and 32% (95% CI 11%-57%) had a reduction of 50% or more. Further meta-analysis showed 97% (95% CI 88%-100%) of 78 patients reported some clinical improvement on sirolimus. Sirolimus may be of particular value in management of airway LMs; out of 27 tracheostomy-dependent patients, meta-analysis showed 33% (95% CI 1%-78%) were decannulated after starting sirolimus. Individual patient meta-analysis on 24 individuals showed a statistically significant better response to sirolimus when initiated under the age of 2 years. CONCLUSION: This review and meta-analysis support the efficacy of sirolimus in pediatric LMs of the head, neck, and airway. A large multi-center trial is needed to further explore its role and limitations. Laryngoscope, 134:2038-2047, 2024.

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OBJECTIVE: The occurrence and predictors of symptomatic subdural hygroma (SSH) subsequent to the fenestration of pediatric intracranial arachnoid cysts (IACs) are unclear. In this study, the authors aimed to investigate the likelihood of an SSH following IAC fenestration and the impact on operative efficacy with the ultimate goal of constructing a nomogram. METHODS: The medical records of 1782 consecutive patients who underwent surgical treatment at the Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were reviewed. Among these patients, a training cohort (n = 1214) underwent surgery during an earlier period and was used for the development of a nomogram. The remaining patients formed the validation cohort (n = 568) and were used to confirm the performance of the developed model. The development of the nomogram involved the use of potential predictors, while internal validation was conducted using a bootstrap-resampling approach. RESULTS: SSH was detected in 13.2% (160 of 1214) of patients in the training cohort and in 11.1% (63 of 568) of patients in the validation cohort. Through multivariate analysis, several factors including Galassi type, IAC distance to the basal cisterns, temporal bulge, midline shift, IAC shape in the coronal view, area of the stoma, and artery location near the stoma were identified as independent predictors of SSH. These 7 predictors were used to construct a nomogram, which exhibited a concordance statistic (C-statistic) of 0.826 and demonstrated good calibration. Following internal validation, the nomogram maintained good calibration and discrimination with a C-statistic of 0.799 (95% CI 0.665-0.841). Patients who had nomogram scores < 30 or ≥ 30 were considered to be at low and high risk of SSH occurrence, respectively. CONCLUSIONS: The predictive model and derived nomogram achieved satisfactory preoperative prediction of SSH. Using this nomogram, the risk for an individual patient can be estimated, and the appropriate surgery can be performed in high-risk patients.

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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. Considering the progressive enlargement of the macrocystic hygroma and its impact on the airway, urgent intervention becomes imperative. Among the available treatment modalities, percutaneous cyst aspiration and sclerotherapy performed under ultrasound guidance represent the most commonly chosen approach. During the induction of general anesthesia, the otolaryngologists were on standby and prepared for emergency tracheotomy. The anesthesiologists chose total intravenous anesthesia induction while maintaining spontaneous breathing. A high-flow nasal cannula was used to keep the infant oxygenated, and endotracheal intubation was successfully performed using a C-MAC video laryngoscope and fiber-optic bronchoscope. CONCLUSIONS: Airway management is the biggest challenge for anesthesiologists when delivering general anesthesia to infants with neck macro-cystic hygroma. Total intravenous anesthesia could be a choice for induction without considering compromised respiration and the side effects of inhalational anesthetics. A high-flow nasal cannula can be used in young infants to maintain oxygenation and allow anesthesiologists a longer time to perform intubation.

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OBJECTIVE: To evaluate the incidence, associated factors, clinical course, and management options of subdural hygroma in patients treated for aneurysmal subarachnoid hemorrhage (aSAH). METHODS: From January 2013 until June 2022, 336 consecutive patients with aSAH underwent treatment in our center. No one patient was excluded from the study cohort. Computed tomography (CT) examinations were performed at admission, immediately after surgery and on the first postoperative day, and subsequently in case of any neurologic deterioration or, at least, once per week until discharge from the hospital. Thereafter, CT examinations were at the discretion of specialists in the rehabilitation facility, referring physicians, or neurosurgeons at the outpatient clinic. RESULTS: The length of radiologic follow-up starting from CT at admission ranged from 1 to 3286 days (mean, 673 ± 895 days; median, 150 days). Subdural hygromas developed in 84 patients (25%). An average interval until this imaging finding from the initial CT examination was 25 ± 55 days (median, 8 days; range, 0-362 days). Evaluation in the multivariate model showed that patient age ≥72 years (P < 0.0001), cerebrospinal fluid (CSF) shunting (P < 0.0001), and microsurgical clipping of ruptured intracranial aneurysm (RIA; P < 0.0001) are independently associated with the development of subdural hygroma. In 54 of 84 cases (64%), subdural hygromas required observation only. Increase of the lesion size with (5 cases) or without (10 cases) appearance of midline shift was associated with patient age <72 years (P = 0.0398), decompressive craniotomy (P = 0.0192), and CSF shunting (P = 0.0009), whereas evaluation of these factors in the multivariate model confirmed independent association of only CSF shunting (P = 0.0003). Active management of subdural hygromas included adjustment of the shunt programmable valve opening pressure, cranioplasty, external subdural drainage, or their combination. Overall, during follow-up (mean, 531 ± 824 days; median, 119 days; range, 2-3285 days) after the start of observation or applied treatment, subdural hygromas showed either decrease (50 cases) or stabilization (34 cases) of their sizes, and no one lesion showed progression again. CONCLUSIONS: The clinical course of subdural hygromas in patients treated for aSAH is generally favorable, but occasionally these lesions show progressive enlargement with or without the appearance of midline shift, which requires active management.

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OBJECTIVE: To evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm). METHODS: 193 (0.61%) singleton fetuses with eNT were retrospectively included. Anomaly scan, echocardiography, and chromosomal and genetic test were included in our antenatal investigation. Postnatal follow-up was offered to all newborns. RESULTS: Major congenital anomalies included congenital heart defect (32.6%, 63/193), hydrops fetalis (13.5%, 26/193), omphalocele (9.3%, 18/193), and skeletal dysplasia (7.8%, 15/193) et al. Abnormal karyotype was identified in 81/115 (70.4%) cases including Turner syndrome (n = 47), Trisomy 18 (n = 17), Trisomy 21 (n = 9), and Trisomy 13 (n = 3). Chromosomal microarray analysis provided informative results with 3.6% (1/28) incremental diagnostic yield over conventional karyotyping. The diagnostic yield of exome sequencing is 10.0% (2/20). There was no significant increase [Odds Ratio (OR) = 1.974; 95% confidence interval 0.863-4.516; P = 0.104] in the incidence of chromosomal defects despite the presence of other structural anomalies. Only 13 fetuses were successfully followed up and survived at term, no one was found with developmental delay or mental retardation. CONCLUSIONS: Extremely large NT has a high risk of chromosomal abnormality. CMA and ES improve chromosomal genomic and genetic diagnosis of fetal increased NT. When cytogenetic analysis and morphology assessment are both normal, the outcome is good.

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Background: The risks added by extended jugular lymphatic sacs (EJLS) to increased nuchal translucency (NT) including genetic and structural abnormalities and pregnancy outcomes have not been previously investigated, which this study aims to investigate. Methods: The data of 155 singleton pregnancies with increased fetal NT (≥95th percentile) of these 20 with fetal EJLS were evaluated retrospectively. Patients were stratified according to NT thickness such that ≥95th percentile - 3.5 mm, 3.6-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, ≥6.5 mm, and grouped according to the presence of EJLS. Pregnancy outcomes, genetic and structural abnormalities were assessed by comparing EJLS with non-EJSL cases (n-EJLS). Results: Associated with NT, the incidence of the presence of EJLS increased with NT, from 4.5% at the ≥95th percentile - 3.5 mm to 30.8% when NT ≥5.5 mm. In the n-EJLS group, the proportion of fetuses with structural and genetic abnormalities increased as the measurement of NT increased. This correlation was not observed in the EJLS group. Compared to n-EJLS, cases with EJLS had a higher rate of fetal structural (38.5% vs. 75%, P = 0.003) and genetic (18.5% vs. 45%, P = 0.005) anomalies and a lower term live birth rate (59.3% vs. 15%, P < 0.001). Conclusion: The increasing rate of EJLS was seen as NT increased. Compared to n-EJLS, the EJLS cases had a higher rate poor pregnancy outcomes and fetal genetic and structural abnormalities.

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BACKGROUND: Subarachnoid-pleural fistula (SPF) is a complex and rare condition characterized by a pathological shunt between the subarachnoid and pleural spaces. It can lead to the accumulation of cerebrospinal fluid (CSF) in the pleural space, pneumocephalus, and the development of central nervous system infection. Trauma or thoracic spinal surgery are common causes of SPF, with symptoms including postural headache, consciousness status changes, and dyspnea. The combination of SPF and subdural hygroma is a severe and rare condition, with little existing literature on its clinical correlation. CASE SUMMARY: We report a case of an 83-year-old male patient with traumatic SPF and bilateral frontal subdural hygroma following a fall from height. The patient initially presented with severe lower back and buttock pain. During admission, the patient developed worsening lower limb weakness and pleural effusion. Further investigation revealed the presence of subdural hygromas with mass effect, requiring emergency bilateral subdural drainage. A multidisciplinary approach was undertaken to manage this complex condition, including intervention for hypovolemic CSF status and subdural hygroma management. The pleural effusion eventually resolved and the patient attained a higher level of consciousness after bilateral hygroma drainage surgery. We also reviewed the present literature relating to this rare combination of medical conditions. CONCLUSION: Traumatic SPF with subsequent subdural hygroma is a rare but serious combination. Although the optimal treatment strategy for this complex condition remains uncertain, our literature review suggested that a multidisciplinary approach, including intervention for hypovolemic CSF and management of the subdural hygroma, is the most beneficial.

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Marked first-trimester nonimmue hydrops fetalis and 45,X with neonatal survival.

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Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid. Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploidy detection (QF-PCR and FISH) were performed on placental villi and uncultured amniotic fluid. After pregnancy termination, the placenta, umbilical cord, and fetal muscle tissues were sampled for FISH detection. Results: The CMA revealed a lower signal from chromosome X in chorionic villi, with a copy number of 1.85, implying the presence of mosaic monosomy X. However, the QF-PCR and FISH results were nearly normal. In uncultured amniotic fluid, CMA and rapid aneuploidy detection indicated complete monosomy X. Across different sampling points on the aborted fetus, the FISH results varied from normal, to mosaic, and then complete monosomy X. Conclusion: This case presents a rare and complex situation where sampling from uncultured chorionic villi indicated low-level chromosome mosaicism, while sampling from amniotic fluid revealed complete monosomy X. Although some of these discordant outcomes may be due to methodological limitations, we conclude that prenatal consultation should be combined with fetal ultrasound phenotype and genetic testing for a comprehensive evaluation of fetal genetic abnormalities.