Bilateral renal lymphangiectasia: Literature review of a rare entity.

Renal lymphangiectasia (RL) is a rare condition in which lymphatic vessels are dilated giving rise to cyst formation in peripelvic, perirenal and intrarenal locations. Knowledge about RL is limited and based upon individual case reports. This can be genetic or acquired. There is no significant association with any gender or age. It can be manifested as focal or diffuse forms and can be unilateral or bilateral. Most of the cases present with abdominal or flank pain. The diagnosis is based on radiological imaging. Due to rarity of diseases, it has potential to be misdiagnosed as other cystic disease of kidneys. The treatment is mainly conservative but prolonged follow up for associated complications like hypertension and renal vein thrombosis is required. We have presented a case of bilateral renal lymphangiectasia with the review of available literature.

Lymphangiectasia Hemorrhagica Conjunctivae Regression with Bleomycin Sclerotherapy on Anterior-Segment Optical Coherence Tomography.

This case report discusses treatment of lymphangiectasia hemorrhagica conjunctivae with bleomycin sclerotherapy in a patient aged 47 years with a history of recurrent subconjunctival hemorrhage.

Renal lymphangiectasia in pediatric population: case series and review of literature.

Renal lymphangiectasia is a rare disorder where perirenal, parapelvic, and/or intra-renal lymphatics are dilated. The clinical presentation of renal lymphangiectasia can range from asymptomatic to renal failure. Ultrasound, computed tomography and magnetic resonance imaging have been used for the diagnosis. Management of such cases varies from conservative to nephrectomy. We report three cases of pediatric renal lymphangiectasia that were managed by recurrent sclerothera-pies and medical supportive treatment at our institution. A literature review is also presented. To the best of our knowledge, there are 83 reported cases in the literature, 60 adults and 23 pediatrics.

Diffuse pulmonary lymphangiomatosis involving lungs and mediastinal soft tissue.

Diffuse pulmonary lymphangiomatosis (DPL) is rare in adults. It is characterized by abnormal proliferation, dilatation, and thickening of the lymphatic channels in the lungs, pleura, and mediastinal soft tissue. Here, we report a case of DPL in a young adult man with recurrent productive cough. Chest computed tomography (CT) showed bilateral interlobular septal and peribronchovascular thickening and mediastinal soft tissue infiltration. Lung biopsy through video-assisted thoracic surgery demonstrated proliferation and dilatation of irregular lymphatic spaces, lined by flattened endothelial cells that were positive for CD31, D2-40, and factor VIII-related antigen on immunohistochemical staining. After treatment with propranolol for six months, the chest CT showed improved interlobular septal and peribronchovascular thickening and a unilateral pleural effusion, which turned bloody. Radiologic features can suggest the diagnosis of DPL. Surgical biopsy with adequate section size is critical in the diagnosis. Propranolol might be an effective and safe therapeutic option for patients with DPL.

Linfangiomatosis pulmonar difusa con compromiso pleural y pericárdico. Reporte de un caso pediátrico / Diffuse pulmonary lymphangiomatosis with pleural and pericardial involvement. Pediatric case report

La linfangiomatosis pulmonar difusa es una enfermedad rara caracterizada por una marcada proliferación y dilatación de los vasos linfáticos en los pulmones, la pleura y el mediastino. Se desconoce la prevalencia, y la etiología no se comprende completamente.Una niña de 22 meses ingresó por poliserositis, con derrame pericárdico y pleural. Requirió pericardiocentesis y avenamiento pleural, y presentó drenaje de quilo (1,5-4 litros/día) sin respuesta al tratamiento médico (ayuno, nutrición parenteral y octreotide). Se realizó biopsia pulmonar. La anatomía patológica mostró hallazgos compatibles con linfangiomatosis difusa pulmonar. Comenzó tratamiento con sirolimus y propanolol, que disminuyeron las pérdidas por el drenaje pleural a la semana. Presentó buena evolución; suspendió aporte de oxígeno y se retiró el drenaje pleural. Se externó al cuarto mes de internación. El diagnóstico temprano de la linfangiomatosis pulmonar difusa es difícil de lograr, pero permite aplicar terapéuticas que evitan la progresión de enfermedad y disminuir la morbimortalida

Diffuse pulmonary lymphangiomatosis is a rare disease characterized by marked proliferation and dilation of lymphatic vessels in the lungs, pleura, and mediastinum. The prevalence is unknown and the etiology is not fully understood.A 22-month-old girl was admitted for polyserositis, with pericardial and pleural effusion. She required pericardiocentesis and pleural drainage, presenting chyle drainage (1.5-4 liters/day) without response to medical treatment (fasting, parenteral nutrition and octreotide). A lung biopsy was performed. The pathological anatomy showed findings compatible with diffuse pulmonary lymphangiomatosis. Treatment with sirolimus and propanolol began, decreasing losses due to pleural drainage one week after treatment. She progressed well, discontinued oxygen supply and pleural drainage was removed, leaving the patient after the fourth month of hospitalization.Early diagnosis of diffuse pulmonary lymphangiomatosis is difficult to achieve, but it allows the application of therapies that prevent disease progression, reducing morbidity and mortality.

Transthoracic ultrasound: an essential diagnostic tool in a very rare case of thoracic lymphangiomatosis.

Thoracic lymphangiomatosis (proliferation of anastomosing lymphatic vessels, of different sizes, in pulmonary, pleural and mediastinal regions) is an extremely rare disorder occurring mostly in childhood. We present a diffuse pulmonary lymphangiomatosis (DPL) case in a young adult female patient in which repeated surgical biopsies were inconclusive and transthoracic ultrasound-guided (TUS) biopsy led to the diagnosis. Even histologically, DPL is very difficult to differentiate from other lymphatic diseases such as lymphangioma and lymphangiomyomatosis, requiring an experienced pathologist and proper immunohistochemistry staining. This case highlights the importance of TUS-guided biopsies in the armamentarium of imagistic techniques in this very rare case.

Primary pulmonary lymphangiectasia in Noonan syndrome: apropos of an extremely rare manifestation and a brief literature review.

Noonan syndrome (NS) is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, bleeding difficulties and lymphatic malformations. Although lymphatic dysplasias are present in 20% of patients with NS, however pulmonary lymphangiectasia has rarely been described. In this present paper, we report a 24-year-old male who was diagnosed with Noonan syndrome and primary pulmonary lymphangiectasia by using chest imaging modalities. A brief overview of the current literature is also provided laying emphasis on the clinical, pathogenetic and diagnostic aspects of this uncommon Noonan syndrome complication.

Linfangiectasia renal bilateral / Bilateral renal lymphangiectasia

Introducción: La linfangiectasia renal es una afección infrecuente en la que existe dilatación de los vasos linfáticos renales. Usualmente es bilateral y de buen pronóstico. Objetivos: Presentar un caso de linfangiectasia renal bilateral, sus características clínicas y aspectos del diagnóstico imaginológico. Caso clínico: Paciente femenina de 59 años de edad, hipertensa controlada, que asistió a la consulta externa de urología por dolor lumbar bilateral, de moderada intensidad y coloración rojiza de la orina, ambos de forma intermitente. El examen físico general y regional fue negativo. Se confirmó microhematuria en el examen general de la orina. Los estudios de la analítica sanguínea fueron normales. El ultrasonido renal reportó pielocaliectasia bilateral moderada y quistes parapiélicos, bilaterales, a predominio izquierdo. La tomografía axial computarizada renal contrastada, reveló la presencia de formaciones hipodensas renales bilaterales, de aspecto quístico parapiélicas y en el seno renal, compatibles con linfangiectasia bilateral. La paciente ha evolucionado favorablemente. Conclusiones: La linfangiectasia renal se debe tener en cuenta en el diagnóstico deferencial de la enfermedad quística renal. Para el diagnóstico imaginológico de certeza es esencial la tomografía axial computarizada renal contrastada(AU)

Introduction: The renal linfangiectasia is an uncommon, in which dilatation of the lymphatic renal vessels exists. It is usually bilateral and of good presage. Objectives: To present a case of renal bilateral lymphangiectasia, their clinical characteristics and aspects of the imaginologic diagnosis. Clinical case: Patient feminine of 59 years of age, with controlled hypertension that attended the external consultation of Urology for lumbar bilateral pain, of moderate intensity, and reddish coloration of the urine, both in an intermittent way. The general and regional physical exam was negative. Microhematuria was confirmed in the general exam of the urine. The sanguine studies of the analytic one were all normal ones. The renal ultrasound reported bilateral moderate pielocaliectasia and parapielic cysts, with left prevalence. The renal contrasted computed tomography revealed the presence of bilateral renal hipodenses formations, of aspect cystic parapielic and in the renal sinus, and compatible with bilateral linfangiectasia. The patient has evolved favorably. Conclusions: The renal linfangiectasia it should be kept in mind in the deferential diagnosis of the cystic renal illness. For the imaginologic diagnostic of certainty it is essential the renal contrasted computed tomography(AU)

Imaging of fetal lymphangiectasias: prenatal and postnatal imaging findings.

Lymphangiectasias are lymphatic malformations characterized by the abnormal dilation and morphology of the lymphatic channels. The classification and treatment of these disorders can be challenging given the limited amount of literature available in children. Various imaging modalities are used to confirm suspected diagnosis, plan the most appropriate treatment, and estimate a prognosis. Prenatal evaluation is performed using both prenatal US imaging and fetal MRI. These modalities are paramount for appropriate parental counseling and planning of perinatal care. During the neonatal period, chest US imaging is a useful modality to evaluate pulmonary lymphangiectasia because other modalities such as conventional radiography and CT display nonspecific findings. Finally, the recent breakthroughs in lymphatic imaging with MRI have allowed us to better classify lymphatic disorders. Dynamic contrast-enhanced lymphangiography, conventional lymphangiography and percutaneous lymphatic procedures offer static and dynamic evaluation of the central conducting lymphatics in children, with excellent spatial resolution and the possibility to provide treatment. The purpose of this review is to discuss the normal and abnormal development of the fetal lymphatic system and how to best depict it by imaging during the prenatal and postnatal life.

A gene missense mutation in diffuse pulmonary lymphangiomatosis with thrombocytopenia: A case report.

INTRODUCTION: Diffuse pulmonary lymphangiomatosis (DPL) is a rare condition. Most patients with DPL present dyspnea, cough, expectoration, and hemoptysis. There are few reports of DPL accompanied by thrombocytopenia, whose cause remains unknown. PATIENT CONCERNS: An 18-year-old male patient presented with recurrent cough, expectoration, and dyspnea for 5 years, and thrombocytopenia was observed during a 2-month follow-up. DIAGNOSIS: Chest computed tomography showed diffuse patchy shadows in both lungs, and pleural and pericardial effusions. Immunohistochemical lung tissue staining showed lymphatic and vascular endothelial cells positive for D2-40, CD31 and CD34. Routine blood test revealed platelets at 62 × 10 cells/L during follow-up. Bone marrow biopsy was normal. Ultrasound revealed no hepatosplenomegaly. Finally, the patient was diagnosed with DPL accompanied by thrombocytopenia. INTERVENTIONS: He was treated by subtotal pericardial resection, thoracocentesis, and anti-infective therapy. Oral prednisone was administered for 2 months. OUTCOMES: The symptoms of cough and shortness of breath were improved, but thrombocytopenia persisted. We investigated the cause of thrombocytopenia. Whole-exome sequencing identified a mutation in exon 3 of the TNFRSF13B gene in this patient. CONCLUSION: DPL may present with thrombocytopenia and DIC. Patients with thrombocytopenia but not DIC and splenomegaly should be screened for gene mutations.

Thoracic duct embolization in kaposiform lymphangiomatosis.

An 11-year-old girl with kaposiform lymphangiomatosis presented with recurrent chylous pericardial effusions that were refractory to pericardial drainage and medical therapy. Magnetic resonance imaging demonstrated a prominent lymphatic duct with anterior mediastinal extension into the left clavicular region and a region of high signal that was favored to represent a low-flow lymphatic malformation. The patient underwent direct access thoracic duct lymphangiography with thoracic duct embolization and sclerotherapy of the large left-sided neck and pericardial lymphatic malformation. After the procedure, her pericardial effusions resolved, and she has remained asymptomatic for 15 months.

Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis.

AIMS: To investigate the relationship between the ophthalmic and systemic phenotypes in patients with hereditary transthyretin amyloidosis with the S77Y mutation (ATTRS77Y). METHODS: In this cross-sectional study, patients with genetically confirmed ATTRS77Y amyloidosis were enrolled. All patients underwent complete neurological examination, including staging with the Neuropathy Impairment Score (NIS), Polyneuropathy Disability (PND) score; complete cardiological evaluation, including echocardiography, cardiac MRI and/or cardiac scintigraphy and complete ophthalmic evaluation, including slit lamp examination and fundus examination. Ocular ancillary tests (fluorescein and indocyanine green angiography, and anterior segment optical coherence tomography) were performed in cases with abnormal findings. The Kruskal-Wallis test was used for quantitative outcomes and Fisher's exact test for qualitative outcomes. Statistical significance was indicated by p<0.05 (two tailed). RESULTS: The study sample was composed of 24 ATTRS77Y patients. The mean patient age was 58.4±12.4 years. None of the patients presented with amyloid deposits in the anterior chamber, secondary glaucoma or vitreous amyloidosis. Retinal angiopathy was observed in four patients, complicated with retinal ischaemia in one patient. Conjunctival lymphangiectasia (CL) was detected in 13 patients (54%), associated with perilymphatic amyloid deposits. The presence of CL was statistically associated with more severe neurological disease (NIS=43.3±31.9 vs 18.9±20.4; PND=2.6±1.0 vs 1.4±0.7 in patients with and without CL, respectively; both p<0.05) and amyloid cardiomyopathy (p=0.002). CONCLUSION: In ATTRS77Y patients, CL is common and could serve as a potential biomarker for severe systemic disease. There were neither anterior chamber deposits, secondary glaucoma nor vitreous deposits in ATTRS77Y patients.

Localized acquired lymphangiectasias after breast surgery: Enhanced non-invasive diagnosis using dermoscopy and reflectance confocal microscopy.

BACKGROUND: Acquired lymphangiectasias represent cystic dilatations of the cutaneous lymphatic vessels resulting from damage and/or obstruction of previously normal lymphatics, usually secondary to surgery, radiotherapy, and/or infections. MATERIALS AND METHODS: The clinical, dermoscopic, and confocal microscopy features of three cases of acquired lymphangiectasias occurring after breast surgery are described along with histopathological correlations. RESULTS: Polarized dermoscopy revealed in all lesions the presence of well-circumscribed, white-yellowish lacunae surrounded by pale septa. In addition, some lesions showed scattered reddish areas and red lacunae. Confocal microscopy showed in the upper dermis numerous, roundish dark cavities separated by thin septa. These features corresponded histopathologically to saccular dilations and ectatic lymphatic vessels lined by a single layer of endothelial cells in the papillary/reticular dermis. CONCLUSION: The use of non-invasive diagnostic techniques may be addressed to an enhanced non-invasive diagnosis of acquired lymphangiectasias by showing peculiar features, thus avoiding the need for skin biopsy.

Current and future role of fetal cardiovascular MRI in the setting of fetal cardiac interventions.

Over recent years, technical developments resulting in the feasibility of fetal cardiovascular magnetic resonance (CMR) have provided a new diagnostic tool for studying the human fetal heart and circulation. During the same period, we have witnessed the arrival of several minimally invasive fetal cardiac interventions (FCI) as a possible form of treatment in selected congenital heart diseases (CHDs). The role of fetal CMR in the planning and monitoring of FCI is not yet clear. Indeed, high-quality fetal CMR is not available or routinely offered at most centers caring for patients with prenatally detected CHD. However, in theory, fetal CMR could have much to offer in the setting of FCI by providing complementary anatomic and physiologic information relating to the specific intervention under consideration. Similarly, fetal CMR may be useful as an alternative imaging modality when ultrasound is hampered by technical limitations, for example, in the setting of oligohydramnios and in late gestation. In this review, we summarize current experience of the use of fetal CMR in the diagnosis and monitoring of fetuses with cardiopathies in the setting of a range of invasive in utero cardiac and vascular interventions and medical treatments and speculate about future directions for this versatile imaging medium.