Cervical cystic hygroma in adults: a case report.

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.

Large retroperitoneal lymphangioma.

Abnormal cystic lymphangioma is a rare, benign tumour of lymphatic origin that often presents with subtle clinical symptoms. A man in his 20s sought medical attention for a progressively tender mass located in the right lower quadrant. Following ultrasound and CT imaging, surgical pathology confirmed the presence of abnormal cystic lymphangioma. This case is noteworthy because of the patient's young age and the retroperitoneal location. An exploratory laparotomy was performed, mitigating the risk of recurrence. In the future, if imaging identifies a cystic mass, consideration of abnormal cystic lymphangioma within the differential diagnosis is imperative. Despite its predominantly subtle symptoms and non-malignant nature, the mass effect by the abnormal cystic lymphangioma can compromise surrounding structures. Overall, clinicians confronted with a cystic mass should adopt a comprehensive diagnostic approach, encompassing abnormal cystic lymphangioma in the differential diagnosis due to its unknown and complex nature.

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.

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.

Retroperitoneal lymphangioma as the final diagnosis of a middle-aged woman with abdominal pain: a case report.

BACKGROUND: Lymphangiomas are lesions attributed to congenital malformations of the lymphatic system, or acquired chronic obstruction of the lymphatic network due to trauma, radiation, surgical manipulation, inflammation, or infection. Overall, lymaphangiomas are rare, and particularly, retroperitoneal lymphangiomas are far more uncommon per reported cases. CASE PRESENTATION: A 49-year-old Iranian woman presented with a progressive abdominal pain since approximately 1 month before admission. She was found to have a retroperitoneal lymphangioma after a precise radiological and surgical workup. CONCLUSION: Retroperitoneal lymphangiomas are rare lesions, sometimes indistinguishable from malignant lesions originating from pancreas and adjacent organs. Complete surgical removal and histologic evaluation of the lesion is the gold standard of treatment and diagnosis.

Cystic hygroma in adults: a single-centre experience and review of the literature.

Cystic hygroma (CH) is a benign congenital lymphatic malformation, occurring predominantly in children, typically as an asymptomatic neck mass. Surgical resection or sclerotherapy is the recommended treatment options. A retrospective review of four cases of adult-onset CH was performed over 2 years by a single surgeon across two institutions. Four patients (two females, median age 31.5 years) who presented with supraclavicular neck masses (range 5-17 cm) are discussed. Ultrasound and MRI demonstrated supraclavicular masses, suggestive of CH. All patients underwent surgical resection. Post-operative courses were uncomplicated, with a mean length of stay of 4 days. All histological samples returned as CH. As of yet, there are no guidelines on the management of CH. Individualised care tailored to each patient, following careful discussion is the most prudent approach. This study demonstrates that surgical resection is a safe and effective treatment for adults in this rarely encountered clinical entity.

Review of diagnosis, differential diagnosis, and management of retroperitoneal lymphangioma.

Lymphatic malformation (LM) is the currently preferred term for what was previously known as lymphangioma. Retroperitoneal LMs are extremely rare, benign, cystic masses that arise from lymphatic vessels. They can be challenging to diagnose because they resemble other retroperitoneal cystic tumors. The development of treatment strategies for rare diseases, including retroperitoneal LM, requires the acquisition of new knowledge to enhance our understanding of the disease progression. Therefore, we present an update regarding fundamental and advanced issues associated with retroperitoneal LM. This review describes the epidemiology, histopathology, biomedicine, clinical manifestations, radiological features, differential diagnosis, and management of this lesion.

Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study.

BACKGROUND: Cystic hygroma (CH) is a relatively common observation in prenatal ultrasounds; however, there are few studies about copy number variations (CNVs) of fetuses with CH. METHODS: We performed a retrospective analysis on 40 pregnant patients (out of 8000 pregnant patients) whose fetuses had CH from November 2016 to June 2021. Villus, amniotic fluid, or umbilical cord blood samples were collected, based on the corresponding gestational age, for karyotype analysis and single-nucleotide polymorphism array (SNP-array). RESULTS: Among the 40 fetuses with CH, 16 (40.0%, 16/40) exhibited isolated CH and 24 (60.0%, 24/40) exhibited CH combined with other ultrasound abnormalities. The most common CH-comorbid ultrasound abnormalities observed in this study were congenital heart disease (25.0%, 6/24), thickened nuchal translucency (20.8%, 5/24), and fetal edema (12.5%, 3/24). Karyotype and SNP-array analysis resulted in an overall detection rate of 30.0% (12/40). Karyotype analysis led to the detection of eight cases of pathogenic CNVs, among which 45, X was the most common. In addition to the above pathogenic CNV, four additional cases were detected by SNP-array. There was no significant difference in the observed pathogenic CNVs between isolated CH and CH combined with other ultrasound (31.3% vs 29.2%, P > .99). Karyotype analysis and SNP-array results influence whether parents terminate the pregnancy. When genetic abnormalities are detected in the fetus, the parents often choose to terminate the pregnancy. CONCLUSIONS: Our study emphasizes that genomic examination should be performed on fetuses with CH to confirm the etiology as soon as possible. During genetic counseling, all fetal characteristics should be carefully and comprehensively evaluated.

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.

A large pericardial cystic lymphangioma presenting as acute-onset respiratory distress in a child: a case report.

BACKGROUND: Lymphangiomas are rare benign malformations of the lymphatics that occur due to blockage of the lymphatic system during fetal development. They commonly occur in the neck and axilla, while involvement of the pericardium is rare. We report herein the case of a 16-month-old Sri Lankan child with a large pericardial cystic lymphangioma presenting with sudden-onset shortness of breath. CASE PRESENTATION: A 16-month-old Sri Lankan boy presented with sudden-onset dyspnea for 1-day duration following a febrile illness that lasted 2 days. On examination, he was afebrile and had subcostal, intercostal, and suprasternal recessions, with a respiratory rate of 50 breaths per minute. He had a loud expiratory grunt. The chest expansion was reduced on the right side, which was dull to percussion. Auscultation revealed a marked reduction of air entry over the right lower and mid zones. Chest X-ray showed a well-demarcated opacity involving the lower and mid zones of the right hemithorax associated with a tracheal shift to the opposite side. Ultrasound scan of the chest revealed fluid-filled right hemithorax suggesting a septate pleural effusion. A contrast-enhanced computed tomography scan of the thorax showed a large multiloculated extrapulmonary cystic lesion involving the right hemithorax with a mediastinal shift towards the left side associated with displacement of the right-side mediastinal structures. He underwent mini-thoracotomy and surgical excision of the cyst. A large cyst originating from the pericardium was observed and excised during surgery. Histological examination revealed a lesion composed of cysts devoid of a lining epithelium but separated by connective tissue, mature adipose tissue, and lymphoid aggregates. The child showed complete recovery postoperatively with full expansion of the ipsilateral lung. CONCLUSION: We report the case of a patient with cystic lymphangioma who was perfectly well and asymptomatic until 16 months of age. This case report presents the very rare occurrence of a large cystic lymphangioma originating from the pericardium. It highlights the importance of considering rare possibilities and performing prompt imaging in situations of diagnostic uncertainty to arrive at an accurate diagnosis that can be lifesaving.