cystic hygroma

BACKGROUND: The diagnosis of spinal tuberculosis often relies on clinical, radiological, and laboratory findings, particularly in resource-constrained settings. However, numerous noninfectious conditions exhibit similar clinical and radiological features to spinal tuberculosis, leading to potential misdiagnosis in the absence of microbiological or histopathological confirmation. This study aims to present a case series from a developing country, highlighting noninfectious conditions that mimic spinal tuberculosis...

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...

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...

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Arachnoid cysts are usually asymptomatic and discovered incidentally. However, cysts may occasionally rupture because of minor head trauma. We describe the radiologic follow-up of 5 patients with ruptured arachnoid cysts featuring spontaneous resolution, subdural hygroma formation, and cystic and subdural hemorrhage. From January 2004 through July 2020, 5 patients (1.3%) with ruptured arachnoid cysts were evaluated out of 388 patients with arachnoid cysts encountered at our institution at that time. The 5 patients were all male, and they ranged in age from 6-17 years (median, 12 years)...

Suleiman-El-Hattab syndrome (SULEHS, OMIM #618950) is an autosomal recessive multisystem developmental disorder characterized by distinctive facial appearance, global developmental delay/intellectual disability, poor expressive speech and happy demeanor. SULEHS is an ultra-rare disorder associated with biallelic loss-of-function variants of the TASP1 gene, and up-to-date, seven patients from five families have been reported in the literature. Loss of TASP1 function has been reported to alter H3K4 histone modifications and expression of TFIIA and HOX transcription factors in the SULEHS phenotype...

Lymphangioma is a congenital anomaly in which abnormal lymphatic drainages localize to form a benign mass, but it has the tendency to grow in size and the potential to infiltrate surrounding structures, causing devastating effects and leading to severe morbidity. The most common site of lymphangioma is the neck region (cystic hygroma colli), whereas lymphangioma in the lower limbs is very rare, accounting for only 2% of cases. Accordingly, the prenatal diagnosis of lymphangioma of the lower limbs has been scarcely reported...

Cyclin-dependent kinase 13 ( CDK13 ) is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. CDK13-related disorder is a newly described genetic condition with characteristic clinical features including mild to severe intellectual disability, developmental delay, neonatal hypotonia, a variety of facial dysmorphism, behavioral problems, congenital heart defects, and structural brain abnormalities...

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...

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

OBJECTIVE: We present prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies. CASE REPORT: A 37-year-old, gravida 3, para 1, woman was referred for genetic counseling because of cystic hygroma on ultrasound at 12 weeks of gestation, a previous pregnancy with a fetus with trisomy 18, and an abnormal first-trimester non-invasive prenatal testing (NIPT) result of Z score of 9.74 (normal: -3.0-3...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

INTRODUCTION: Lymphoma hygroma (LH) that is the most common type of lymphangioma, but it rarely occurs in the forearm. It may show localized invasive behavior, but is benign. CASE PRESENTATION: A 42-year-old woman presented to our hospital with a growing strip-like mass in the right forearm that had been detected 3 years earlier. Ultrasound examination showed a subcutaneous strip of low back vocal cords on the right forearm. Further magnetic resonance imaging (MRI) showed irregular strip-like dilated lymphatic vessels characteristic of LH with low T1 signal intensity and high T2 signal intensity...

INTRODUCTION AND IMPORTANCE: Cystic hygroma in adult is a rare condition that is typically treated with surgery, but in some cases, the cyst may be difficult to completely remove, leading to the potential of recurrence. CASE PRESENTATION: In this case report, we describe the use of ethanol ablation as an alternative treatment for a rapidly growing cystic hygroma in an adult patient. The patient had a lump on her neck for 2 years that had been slowly growing...

INTRODUCTION AND IMPORTANCE: Teratoma is a germ cell tumor originating from pluripotent germ cells and embryonal cells that commonly occurs in the gonads with only 15 % of it arising in extragonadal sites. In infants and children, teratomas of the head and neck are uncommon that comprise 0.47 %-6 % of all teratomas, and their occurrence in parotid gland is extremely rare. It is considered a diagnostic pitfall preoperatively, and their definite diagnosis can only be made upon surgery followed by histopathological examination...

Fetal cystic hygroma (CH) is associated with poor prognosis and chromosomal anomalies. Recent studies have suggested that the genetic background of affected fetuses is essential for predicting pregnancy outcomes. However, the detection performance of different genetic approaches for the etiological diagnosis of fetal CH remains unclear. In this study, we aimed to compare the diagnostic efficiency of karyotyping and chromosomal microarray analysis (CMA) in a local fetal CH cohort, and tried to propose an optimized testing strategy that may help improve the cost-effectiveness of disease management...

OBJECTIVE: Wolf-Hirschhorn syndrome (WHS) is a congenital malformation syndrome with poor prognosis. It is associated with a heterozygous deletion of chromosome 4p16.3. Adequate knowledge of prenatal phenotypes and proper prenatal counseling are essential for intrauterine diagnosis. METHOD: We retrospectively analyzed 11 prenatal cases of WHS diagnosed using low-depth whole-genome sequencing (copy number variation sequencing) performed at our hospital from May 2017 to September 2022 and reviewed their prenatal ultrasound reports in detail...

Chest wall lymphatic malformations are rare and can pose a diagnostic dilemma, particularly if they present abruptly. This case report describes a 15-month-old male toddler presenting with a left lateral chest mass. Histopathology of the surgically excised mass confirmed the diagnosis of a macrocystic lymphatic malformation. Furthermore, there was no recurrence of the lesion in the two-year follow-up period.

OBJECTIVE: We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X. METHODS: From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant...