Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

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. Presentations in CSPP1 include cerebellar and brainstem malformations with vermis hypoplasia and molar tooth sign, difficult to visualize in early gestation. A second pregnancy was marked by the recurrence of isolated increased nuchal translucency at 10 + 2 WG. Sanger prenatal diagnosis targeted on ASCC1 and CSPP1 variants showed the presence of the homozygous familial ASCC1 variant. In this case, prenatal exome sequencing analysis is subject to a partial ASCC1 phenotype and an undetectable CSPP1 phenotype at 10 weeks of gestation. As CSPP1 contribution is unclear or speculative to a potentially later in pregnancy or postnatal phenotype, it is mentioned as a variant of uncertain significance. The detection of pathogenic or likely pathogenic variants involved in severe disorders but without phenotype-genotype correlation because the pregnancy is in the early stages or due to prenatally undetectable phenotypes, will encourage the clinical community to define future practices in molecular prenatal reporting.

Cystic lymphangioma of the lesser omentum in an adult patient.

INTRODUCTION: Lymphangiomas belong to the group of benign vascular tumors that originate in the lymphatic tissue. Up to 90% of cases manifest in children before the second year of life. In adults, their presence is very rare. In most cases, they are located in the head, neck and axilla. Intra-abdominal lymphangiomas are very rare and represent less than 1% of all cases. CASE REPORT: The authors present the case of a 64-year-old female patient diagnosed with an intra-abdominal cystic lesion following a routine examination. A CT scan of the abdomen confirmed a cystic lesion located in the lesser omentum between the left lobe of the liver and the lesser curvature of the stomach. The patient was scheduled for laparoscopic exstirpation of the lesion. Histological examination confirmed the clinical diagnosis of cystic lymphangioma of the lesser omentum. CONCLUSION: The etiopathogenesis of lymphangiomas remains unclear. Despite the fact that they are benign tumors, lymphangiomas tend to have an infiltrative pattern of growth, invading surrounding structures. The majority of cases are asymptomatic and the diagnosis is incidental. The gold standard in treatment remains complete surgical extirpation with microscopically negative margins.

First-trimester septated cystic hygroma, marked non-immune fetal hydrops, 45,X and coarctation of the aorta with neonatal survival.

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

OK-432 Sclerotherapy of Giant Cervicomediastinal Cystic Hygroma.

Cystic hygroma is one type of the benign malformations and typically located in the neck, clavicle, and others, in children under the age of 5 years. However, the incidence of giant cervicomediastinal giant cystic hygroma is very rare, especially in adulthood. Such a location and age make its diagnosis difficult because they are usually asymptomatic. Complete surgical resection seems impossible while multiple sites are involved. Herein, we present a case of giant cervicomediastinal cystic hygroma, describing the clinical presentation, radiographic features, and OK-432 sclerotherapy. In conclusion, repeated OK-432 sclerotherapy may be an effective treatment option in giant cervicomediastinal cystic hygroma. Pay close attention to patient's symptoms and vital signs, adjusting the OK-432 dose throughout the process.

Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results.

The aim of this study is to retrospectively examine invasive diagnostic methods, structural anomalies accompanying cystic hygroma, and pregnancy outcomes in cystic hygroma cases admitted to a tertiary centre. The population of the study consisted of 29 live foetuses with cystic hygroma in the foetal neck only in the first or second trimester. In the study, pregnant women who applied to our centre were included. Amniocentesis or chorionic villus sampling was performed for genetic analysis according to the weeks of the pregnant women who were diagnosed with cystic hygroma by ultrasound examination by two clinicians experienced in foetal anomaly. Of the pregnant women included in the study, 10 had normal karyotype, 12 had abnormal karyotype and 13 had structural abnormality. It is very important to provide genetic counselling to the families of foetuses with cystic hygroma with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and experienced sonographers. Implications for rehabilitationWhat is already known on this subject? Cystic hygroma, also known as cystic lymphangioma, is a congenital cystic malformation often seen in the first trimester, which occurs in the foetal neck due to the failure of the connections between the cervical lymphatic vessels and the jugular venous system to develop normally. Cystic hygroma may be isolated, but highly associated with foetal aneuploidy, hydrops fetalis, abnormal foetal nuchal translucency.What do the results of this study add? Invasive prenatal diagnostic tests (CVS or amniocentesis) should be performed in all patients with cystic hygroma, as cystic hygromas can be diagnosed by first trimester foetal genetic sonogram screening and are largely accompanied by chromosomal abnormalities.What are the implications of these findings for clinical practice and/or further research? In foetuses with cystic hygroma, foetal karyotyping, detailed sonography and their documentation, genetic counselling is important to families of cystic hygroma foetuses with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and maternal foetal medicine specialists, since there is a high risk for aneuploidy and foetal malformation.

CYSTIC LYMPHANGIOMA ARISING FROM THE SMALL INTESTINE MESENTERY INCIDENTALLY FOUND DURING SURGERY FOR A LARGE OVARIAN TUMOR - A CASE REPORT.

The aim of this study was presenting significance of diagnostic process in doctor's daily routine. A 45-year-old patient for a planned laparotomy due to left ovarian cyst detected with a routine transvaginal ultrasound. She did not report any symptoms. Computer tomography of the abdomen and pelvis showed a cystic lesion with segmental wall thick¬ening, measuring 133 ☓ 83 ☓ 135 mm, adjacent to the left ovary and the uterus on the left side. At the laparotomy exploration, a giant cyst, ca. 20 cm in diameter was found above the uterus, on the left side, in the area between the lower and middle abdomen. The histological exam results showed lymphangioma of the small and large intestine mesentery. In this case, lymphangioma was found in a rare location, in the mesentery of the ileocecal valve. It did not present any signs and symptoms. CT used in the present case failed to identify the exact point of origin of the lesion.

Primary and secondary diseases of the perinephric space: an approach to imaging diagnosis with emphasis on MRI.

The perinephric space is the middle compartment of the retroperitoneum, containing the kidneys and adrenal glands. Differential considerations for diseases involving primarily the perinephric space differ from those arising from the kidney itself, show variant imaging features, and require identification and characterisation by interpreting radiologists-an imaging diagnosis can be suggested in many cases. Lymphangiomas are congenital cystic lesions that may contain lipid-laden chyle, which may be detectable on magnetic resonance imaging (MRI). Retroperitoneal fibrosis, Erdheim-Chester disease, and lymphoma may present as a perinephric soft tissue rind. Osseous findings favour Erdheim-Chester, ureteric obstruction favours retroperitoneal fibrosis, and associated lymphadenopathy with mass-effect, but without invasion of adjacent structures favours lymphoma. Extramedullary haematopoiesis and brown fat stimulation are both characterised by signal drop on opposed-phase T1-weighted (W) images, the former resulting from severe anaemia and the latter in the context of elevated serum catecholamines, especially in the setting of phaeochromocytoma. Liposarcoma is the most common primary sarcoma of the retroperitoneum. Metastases are uncommon; however, they can be seen in melanoma, among other primary malignancies. Increased T1W signal hyperintensity is typical of melanoma metastases and haematomas. Abscesses show non-enhancing fluid centrally with marked diffusion restriction. This article presents a review of the perinephric space, pathological conditions of the perinephric space, and an approach towards imaging and diagnosis using cross-sectional imaging, with emphasis on MRI. MRI provides better tissue characterisation, assessment of enhancement kinetics, and detection of intralesional fat in comparison to CT. Clinical and laboratory correlation or tissue sampling may be required for definitive diagnosis in some cases.

Management of Concealed Type IV Endoleak and Aortic Sac Hygroma by Prone ContrASt EnHancement Computed Tomography Angiography.

BACKGROUND: Aortic sac hygroma and concealed endoleaks (EL) after endovascular aneurysm repair (EVAR) of abdominal aortic aneurysm needs particular attention with aggressive management as they are associated with rapid sac expansion and rupture risk. However, they can be erroneously reported as type IV or V EL with supine computed tomography (CT) scans, leading to delay in management. Therefore, we describe a novel diagnostic technique, 'Prone contrASt enHanced computed tomography Angiography' (PASHA), to document concealed EL METHODS: We present eight case descriptions with continuous sac expansion after primary EVAR. Management began with diagnosis using the PASHA imaging technique. PASHA is a multiphase CTA positional technique for increasing the accuracy of detecting EL after EVAR. Furthermore, the PASHA imaging technique also guides whether the open or endovascular intervention could be used effectively to manage the sac expansion. In synchrony with the PASHA technique, "EVAR GORE SalvAge FAbric Technique" (ARAFAT) was to salvage previous EVAR. RESULTS: The PASHA technique diagnosed all cases of type IIIb EL, as it enhanced the degree of contrast infiltration into the aortic sac when microleaks were present. ARAFAT was effectively used in five elderly patients. Another three had an open conversion; two with double breasting of the aortic sac and one EVAR explantation. CONCLUSIONS: The PASHA protocol helped classify and localize the concealed EL (type IV, V), which were not appropriately diagnosed by supine CT protocols. PASHA and ARAFAT were used as a fully functioning protocol to overcome apparent challenges in accurate diagnosis and subsequent concealed EL management in high-risk patients.

Comparison of sonographic findings between neonates with pyriform sinus fistulas and lymphangiomas.

PURPOSE: In neonates, pyriform sinus fistulas and lymphangiomas require different early treatment, such as surgical resection or sclerosing therapy, respectively. We aimed to evaluate the use of sonographic findings for differentiating between pyriform sinus fistulas and lymphangiomas in neonates with a lateral cervical cystic mass. METHODS: Sixteen cases diagnosed with pyriform sinus fistulas (n = 7) or lymphangiomas (n = 9) were included. Sonographic findings, including fistulas from the pyriform sinus, air-containing cysts, abnormal thyroid parenchyma echogenicity, internal septae within the cyst and spread to the opposite cervical site, were compared between neonates with pyriform sinus fistulas and those with lymphangiomas. Fisher's exact was used for statistical comparisons. RESULTS: A significant difference was observed between cases with and without air-containing cysts (present/absent in neonate with pyriform sinus fistula vs lymphangioma: 5/2 vs. 0/9; p = 0.005), abnormal thyroid parenchyma echogenicity (present/absent: 4/3 vs. 0/9; p = 0.019), and internal septae within the cysts (present/absent: 2/7 vs. 9/9; p = 0.005). No significant differences were observed between cases with or without a fistula from the pyriform sinus (present/absent: 2/5 vs. 9/0; p = 0.175) and spread to the opposite cervical site (present/absent: 4/3 vs. 4/5; p = 0.500). CONCLUSIONS: Ultrasound can differentiate pyriform sinus fistulas from lymphangiomas in neonates. In our small cohort, if they exhibited the respective sonographic findings; fistula from pyriform sinus, air-containing cysts or abnormal thyroid parenchyma echogenicity, patients were diagnosed as cases of pyriform sinus fistula. These diagnoses are critical for pediatric surgeons or otolaryngologists in surgical planning.

Euploid First-Trimester Cystic Hygroma: A More Benign Entity than Previously Thought?

OBJECTIVE: Studies summarizing the outcome of first-trimester septated cystic hygroma are generally based on small studies or from multiple centers with limited ascertainment. We reviewed the natural history of a large cohort of such cases from a single tertiary referral center, with the aim being to establish contemporary outcome data, particularly in the setting of normal karyotype. METHODS: A retrospective cohort study from 2007 to 2017 was conducted at a single tertiary referral prenatal diagnosis center. Data were analyzed from a prospectively collated fetal anomaly database. Search terms were "increased nuchal translucency (NT)," "cystic hygroma," and "septated cystic hygroma." All cases were confirmed to have NT >3 mm with septations. Cases of simple increased NT without septations were excluded. RESULTS: During the study period, over 110,000 pregnancies were delivered at our center, resulting in 410 cases of septated cystic hygroma diagnosed prior to 14 weeks' gestation. Pregnancy outcome was obtained in 99% (405/410) of cases, with detailed pathology outcome available in 92% (378/410). A total of 87% (351/405) underwent invasive prenatal testing, and postnatal chromosome status was established in further 27 cases. A total of 61% (230/378) had abnormal chromosomal status. Of the 39% (148/378) with normal chromosomal status, only 13% (19/148) had a significant structural fetal abnormality, which included 7 cardiac and 12 noncardiac abnormalities. Overall, the perinatal loss was 62% (253/405). The total survival rate in the setting of euploid cystic hygroma without structural abnormality was 84% (108/129). CONCLUSIONS: Counseling regarding outcomes in the setting of first-trimester septated cystic hygroma initially focuses on the strong likelihood of an abnormal karyotype, which occurs in 61% of cases. However, once fetal chromosomal abnormality is excluded, our results demonstrate only a 13% incidence of major structural fetal abnormality, which appears significantly less than previously reported. Normal fetuses have a 77% survival rate. These data represent the largest single-center study of first-trimester cystic hygroma with complete outcome data and therefore will be useful for contemporary patient counseling. Such counseling can be more positive than previously expected, once chromosomal abnormality is first excluded.

Giant pancreatic cystic lymphangioma.

A giant cystic lymphangioma in the pancreatic body-tail was diagnosed as an incidental ultrasound mass in a 41-year-old patient, with a progressive size that had increased in the last year by about 20 cm size. An ultrasound guided fine needle puncture was performed and the result was a benign cystic lesion. Given the increase in size, a surgical intervention was decided. A retroperitoneal cystic tumor dependent on the posterior pancreatic wall was identified and a full laparoscopic resection with pancreas and spleen preservation was performed. The pathological report confirmed the diagnosis of benign cystic lymphangioma. The patient was discharged on the fifth postoperative day without any remarkable complications. After one year of follow-up, the patient remains asymptomatic.

A rare cause of intra-abdominal cysts: pancreatic cystic lymphangiomas.

Echenique et al. described a lymphangioma as a rare cystic neoplasm of the pancreas. We present a similar intra-abdominal lesion diagnosed by endoscopic ultrasound (EUS)-fine-needle aspiration (FNA) cytology.

Frequency of perigraft hygroma after open aortic reconstruction.

OBJECTIVE: The incidence of perigraft hygroma (PGH) development after aortic reconstruction remains poorly defined and its clinical relevance is questionable. This study was designed to establish the incidence of and determine the risk factors associated with PGH formation and its outcomes. METHODS: Patients who underwent open aortic reconstruction for either aneurysmal or occlusive disease with an expanded polytetrafluoroethylene (ePTFE) or polyester graft from 2004 to 2018 were retrospectively reviewed (n = 262). Only those who had follow-up imaging 3 or more months after repair were included. Patients with mixed graft types were excluded. PGH was defined as a perigraft fluid collection of 30 mm or greater in diameter with a radiodensity of 30 or fewer Hounsfield units on computed tomography at a minimum of 3 postoperative months. Analysis was conducted between patients with and without PGH. RESULTS: One hundred forty patients met the inclusion criteria: 88 were treated with ePTFE and 52 with polyester grafts. Twenty-three patients (16.4%) were found to have radiologic evidence of PGH. PGH developed more frequently in patients with ePTFE (21/88 [23.9%]) compared with those with polyester grafts (2/52 [3.8%]) (P = .002). Mean PGH size was 63.5 ± 36.4 mm (range, 33-153 mm) and the average time to PGH detection 27.7 months (range, 3-112 months). Baseline characteristics were similar between the groups. Patients who developed PGH had larger aneurysms, more often received ePTFE grafts, had larger graft diameters, and had bifurcated grafts. The overall mortality was 32.1% at a mean follow-up of 5.2 years. The 5-year mortality rates were similar between patients with and without PGH (26.1% vs 18.8%; P = .41). Of the 23 patients with PGH, 4 (all with ePTFE) presented with symptoms related to the PGH. The average size of symptomatic and asymptomatic PGH were 11.5 and 4.8 cm, respectively. Mortality rates overall were similar between those with and without symptoms (50.0% vs 36.8%; P = .99). CONCLUSIONS: Nearly one-quarter of aortic reconstructions with ePTFE are associated with PGH formation compared with 4% with polyester. Clinically significant PGH-related symptom development occurs in 20%. Patient education and close surveillance are warranted. Manufacturer's device modification is needed.

Characteristics of adult abdominal cystic Lymphangioma: a single-center Chinese cohort of 12 cases.

BACKGROUND: Cystic lymphangioma is a rare, benign developmental disease, mostly affecting the cervical and axial regions. The clinical features of abdominal cystic lymphangioma (ACL) are reported among pediatric patients but are less well known in adults. The purpose of this study was to demonstrate the clinical characteristics of ACL in Chinese adults and describe our experience in treating this disease. METHODS: We conducted a single-center, non-interventional, retrospective study of 12 adult patients with ACL admitted to Peking Union Medical College Hospital in Beijing, China from November 1984 through August 2017. The demographic, clinical, laboratory, imaging, histopathologic, and therapeutic data were collected. RESULTS: Detailed information on seven males and five females was available. The mean age at diagnosis was 39.1 (SD 17.3) years. The mean duration of follow-up was 6.9 years. Six (50%) patients were asymptomatic, and abdominal pain was the leading symptom for three (25%) patients. The cysts were evaluated by ultrasound (n = 8, 67%), CT (n = 10, 83%), and MRI (n = 4, 33%). Therapeutic modalities include laparotomy (n = 6, 50%), laparoscopy (n = 4, 33%), and aspiration (n = 2, 17%), with variable outcomes. The mean postsurgical hospital stay was 6.8 days. Complete excision was accomplished in eight patients, and one recurrence was observed during follow-up. Of patients who underwent partial resection, one experienced disease relapse. CONCLUSIONS: This is the first report on an Asian cohort of adult patients with ACL. Typical imaging features could lead to timely diagnosis and treatment of ACL. Radical resection is recommended with a longer period of follow-up. The analysis of this cohort deepens our understanding of adult ACL.

Outpacing movement - ultrafast volume coverage in neuropediatric magnetic resonance imaging.

BACKGROUND: Conventional MRI sequences are often affected in neuropediatric imaging by unavoidable movements. Therefore, children younger than 6 years usually have to be examined under sedation/anesthesia. A new real-time MRI technique with automatic slice advancement allows for motion-robust T2-weighted volume coverage of the whole brain within a few seconds in adults. OBJECTIVE: To evaluate to which extent the new volume coverage method can be used to visualize cerebrospinal fluid and reduce the need for anesthesia in children. MATERIALS AND METHODS: We assessed 30 children ages 6 years and younger with suspected or proven hydrocephalus, hygroma or macrocephalus using volume coverage sequences with 20 slices per second in three planes. If necessary, a parent was placed in the bore together with the child for calming and gentle immobilization. We compared visualization of cerebrospinal fluid spaces and course of the shunt catheter in volume coverage sequences vs. fast spin-echo sequences. RESULTS: The clinical issue could be sufficiently assessed in all children with use of volume coverage sequences, whereas conventional fast spin-echo sequences performed moderately to poorly. Visualization of the tip of a shunt failed in 16% of volume coverage scans and 27% of turbo spin-echo scans. A subsequent examination under anesthesia was never necessary. None of the examinations had to be stopped prematurely. CONCLUSION: The motion-robust volume coverage sequences with T2-type contrast can be used to avoid sedation of children in the evaluation of cerebrospinal fluid spaces, even in the presence of vigorous motion. For other indications and contrasts, the technique must still be evaluated.

Cystic lymphangioma in the peripheral jejunal mesentery in an adult and excision with laparoscopic-assisted surgery: a case report.

BACKGROUND: Lymphangiomas are uncommon congenital malformations that present mainly in the head, neck, and axillar regions in pediatric patients. Mesenteric cystic lymphangiomas (MCLs), which occasionally present with substantial growth and the invasion of adjacent vital structures, are rarely reported in adults. We report a case of MCL in an adult who was treated with laparoscopic-assisted excision. CASE PRESENTATION: A 40-year-old Japanese man visited his family physician for prolonged periumbilical pain. Plain computed tomography (CT) showed a low-density mass in his left abdomen, and he was referred to our hospital 2 weeks later. His abdomen was flat and soft, and no mass was felt upon palpation. Routine laboratory data showed no abnormalities in the blood cell counts. The levels of tumor markers, such as carcinoembryonic antigen (CEA), carbohydrate antigen 19-9 (CA19-9), and cancer antigen 125 (CA125), were within normal ranges. Contrast-enhanced CT was performed, and a low-density mass was observed with an irregular outline and poor contrast, as well as involvement of the peripheral mesenteric artery and partial compression of the adjacent jejunum without dilatation of the oral side of the bowel. The patient was diagnosed with lymphatic cysts and observed for 1 month without symptom exacerbation. Follow-up CT showed no increase in the size of the mass but showed apparent invasion of the jejunal wall without bowel obstruction. Magnetic resonance imaging (MRI) showed intermediate intensity on T1-weighted imaging (T1WI) and high intensity on T2-weighted imaging (T2WI). The coronal view on T2WI clearly showed an accumulation of cystic lesions. We performed tumor excision with partial resection of the jejunum in a laparoscopic-assisted manner. Pathological examination showed multicystic lesions with an attenuated endothelial lining, surrounding rich adipose tissue and scattered smooth muscle fibers; the patient was diagnosed with MCL. Immunohistochemical assays supported this diagnosis. CONCLUSIONS: This is rare case of MCL presenting in an adult who underwent successful laparoscopic-assisted resection. Mesenteric lymphangioma (ML) should be considered in the differential diagnosis of patients with intraabdominal cysts. Radical excision is optimal, even when the patient is asymptomatic. Laparoscopic-assisted tumor resection is a suitable surgical method for treating MLs located in the peripheral mesentery.

Generalized cystic lymphangiomatosis incidentally recognized in an asymptomatic adult: Peroperative, CT, MRI, and histopathological findings of a very rare case.

Generalized cystic lymphangiomatosis is an uncommon congenital lymphatic malformation that may affect soft and hard tissues as well as organs. It is rarely seen in adult patients. Osseous lesions appear as well-defined cystic lesions with a sclerotic rim without periosteal reaction or a soft tissue component. A nonenhancing lesion in fluid density appears to be one of the most common characteristics of abdominal diseases, and clinical features are directly related to the extent of the disease. In this report, we present peroperative, computed tomography (CT), magnetic resonance imaging (MRI), and histopathological findings of a very rare case of generalized cystic lymphangiomatosis recognized in adulthood.

Congenital superior caval vein aneurysm in a newborn with cystic lymphangioma: a rare case report.

Dilatation of the superior caval vein is extremely rare, with few cases described among newborns. The association of aneurysm of the superior caval vein and lymphatic malformation is extremely uncommon. We report a case of a female infant with a prenatal diagnosis of superior caval vein aneurysm presenting at birth with a neck mass that was found to be a cystic lymphangioma.