End-stage renal disease in a patient with congenital lymphangiectasia and lymphedema

Abstract

Congenital lymphangiectasia with lymphedema is a disorder constituting the main defect in many different genetic syndromes. Herein we describe a 23-year-old male patient with congenital lymphangiectasia and severe lymphedema of the right leg, scrotum, and abdominal wall, who presented with end-stage renal disease, presumably due to cystic renal lymphangiectasia, and is undergoing chronic hemodialysis treatment.

Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review

“…At times there are cutaneous lymphangiectasias that erupt to the outside, causing leakage of lymph through the skin. The lymphangiectasias can also be present in the pleura, pericardium, thyroid gland [Scarcella et al, 2000], and kidney [Sombolos et al, 2001]. The latter distributions are especially rare, but solitary lymph vessel dysplasias at these loci have previously been described [Simonton et al, 1997].…”

“…In the initial report [Hennekam et al, 1989], no abnormalities of the heart or blood vessels were found. Later reports have drawn attention to renal artery anomalies [Cormier‐Daire et al, 1995; Sombolos et al, 2001], with attendant renovascular hypertension in one of these instances [Cormier‐Daire et al, 1995], winding of the aortic arch [case JS], congenital heart defects such as VSD [Angle and Hersch, 1997; Scarcella et al, 2000; case RB] and atrial septal defect [Rockson et al, 1999; Rosser et al, 2000], and intracerebral infarctions [Huppke et al, 2000]. It is possible that the intracerebral cysts present in two cases [cases DW and JS] also have a vascular origin.…”

“… * Key to references: 1, Hennekam et al [1989]; 2, Gabrielli et al [1991]; 3, Yasunaga et al [1993]; 4, Cormier‐Daire et al [1995]; 5, Angle and Hersch [1997]; 6, Huppke et al [2000]; 7, Scarcella et al [2000]; 8, Sombolos et al [2001]; 9, Erkan et al [1998]; 10, Rockson et al [1999]; 11, Rosser et al [2000]. …”

“…In 1989, Hennekam and co‐workers [Hennekam et al, 1989] described a highly inbred family from a small fishing town on the (former) Zuiderzee with the unusual combination of symptoms of congenital lymphedema, intestinal lymphangiectasia, facial anomalies, and mental retardation. Thereafter, several authors [Gabrielli et al, 1991; Yasunaga et al, 1993; Cormier‐Daire et al, 1995; Angle and Hersch, 1997; Erkan et al, 1998; Njolstad et al, 1998; Rockson et al, 1999; Huppke et al, 2000; Rosser et al, 2000; Scarcella et al, 2000; Sombolos et al, 2001] have described additional patients, sometimes with additional symptoms, which confirmed this combination of symptoms as a separate entity. The mode of inheritance was autosomal recessive [Hennekam et al, 1989].…”

Autosomal recessive non‐immune hydrops fetalis caused by systemic lymphangiectasia

“…This autosomal recessive disorder first described by Hennekam et al [1989] includes intestinal lymphangiectasia with protein‐losing enteropathy, craniofacial dysmorphy, heart and genitourinary malformations, skeletal defects, mental retardation and seizures [Van Balkom et al, 2002]. In this context it is remarkable that in Hennekam syndrome lymphangiectasia has been rarely described in different organs such as pleura, pericardium, thyroid gland, and kidneys [Scarcella et al, 2000; Sombolos et al, 2001]. Therefore, it is conceivable that Hennekam syndrome and the cases reported by Njolstad, Jacquemont and us may be variable manifestations of the same entity.…”