Renal lymphangiomatosis, a rare differential diagnosis for autosomal recessive polycystic kidney disease in pediatric patients

Abstract

Renal lymphangiomatosis is a rare, benign malformation, characterized by developmental malformation of the perirenal, peripelvic, and intrarenal lymphatics. Radiologist knowledge of the unique radiological features of this entity helps patient's safety in terms of management. We study the case of a 27-month-old boy presented to the emergency department with upper respiratory tract infection. He had a high blood pressure and had been diagnosed earlier with autosomal recessive polycystic kidney disease based on renal ultrasound findings. Because the clinical presentation and laboratory work of the patient did not support the diagnosis of autosomal recessive polycystic kidney disease, further, extensive work-up was performed, which confirmed the diagnosis of renal lymphangiomatosis. This case report emphasizes the imaging features of this rare entity to promote early diagnosis and better patient care.

Triparametric ultrasound in differentiating multicystic renal masses: a rare presentation of unilateral focal renal lymphangioma

“…Abdominal pain, as in our case, occurs in 42% of presentations [1] ; however, there is no known association between the size of the lesion and the symptoms, and many large collections present asymptomatically [2] . Renal lymphangiomas can present as an abdominal mass particularly in pediatric patients [3] .…”

“…If imaging characteristics are not diagnostic, histopathology can be used to suggest the diagnosis. Fluid sampling (where possible in perinephric cases) has been shown to contain either serous or chylous fluid with lymphocyte predominance [3] , [19] , [20] . Microscopy typically demonstrates endothelial lined spaces with no glomerular or tubular abnormality and positive staining for factor VIII, D2-40 antibody, CD34, and weakly for CD31, but negative staining for keratin and pancytokeratin [19] , [21] , [22] .…”

“…Recurrent fluid collections after percutaneous drainage have been treated with marsupialization by surgically creating a communication between the cystic lesion and the peritoneal cavity [2] . There have been 2 reported uses of sclerotherapy in patients who had a symptomatic painful perinephric renal lymphangioma and were not suitable for surgical intervention [3] , [23] .…”

Renal Lymphangiectasia: An Unusual Mimicker of Cystic Renal Disease – A Case Series and Literature Review

“…Another entity called intrarenal lymphangioma is a rare one and it can appear as a focal hyperechoic lesion in the renal cortex. In pediatric cases, it demonstrates enlarged kidneys with raised renal cortical echoes and loss of corticomedullary differentiation [8].…”

Endothelial-epithelial communication in polycystic kidney disease: Role of vascular endothelial growth factor signalling

“…An attractive prospect is that non-renal vascular abnormalities observed in patients with PKD may result from polycystin loss in the endothelium. Examples of this include impaired flowmediated dilatation in peripheral arteries of children and young adults or normotensive patients with ADPKD compared with healthy controls [76,77], the association between the mutation position in PKD1 and cerebrovascular aneurysms [78] and lymphatic malformations reported in both ADPKD and ARPKD patients [79,80]. Targeted deletion in animal models in vivo, complemented by organ-on a chip technologies in vitro, may help to tease out whether these clinical observations occur as a consequence of mutations of genes such as PKD1 in the endothelium, indirectly through PKD1 loss in vascular smooth muscle [81] or as yet unidentified non-cell-autonomous mechanisms.…”