Hennekam lymphangiectasia syndrome

Abstract

Hennekam lymphangiectasia syndrome is a rare autosomal recessive condition. Onset is usually in childhood. The prevalence is unknown but less than 50 cases have been reported in the literature. Incidence is about 1 in 100000 and occurs in all ethnic groups. The syndrome is characterized by the association of lymphedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. Here is a case presented with distension of abdomen with ascites, bilateral pedal oedema, macrocephaly, left half facial edema, left half hypertrophied tongue, dental anomalies, acanthosis nigricans, acrochordons and syndactyly consistent with a diagnosis of Hennekam syndrome. The diagnosis of Hennekam is suspected on the basis of clinical phenotypic features. This is one of the very few cases reported from India.

Intestinal lymphangiectasia in a 3-month-old girl

“…HS is an autosomal recessive disorder consisting of primary intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability. [ 8 , 9 ] The role of CMV as a cause of secondary IL is still unknown, and only a few reports have noticed the association of CMV with IL, [ 12 – 14 ] with only Nakase et al detecting CMV-DNA in the intestinal lesion. [ 12 ] In none of previous reports, CMV infection was associated with HS.…”

“…Less than 50 cases have been reported in the literature, and the prevalence is unknown. [ 8 ] The syndrome is characterized by multiple organ lymphangiectasia, dysmorphic facial appearance and mental retardation. Vascular and lymphatic vessel abnormalities resulting from genetic mutations lead to fluid accumulation, especially in the face, lower limbs and genitalia.…”

“…[ 9 ] Intellectual deficit is highly variable. [ 8 ] Mutations in CCBE1 or FAT4 genes are responsible for the syndrome in 45% of cases (25% CCBE1 and 20% FAT-4). [ 7 , 10 ] CCBE1 is involved in the migration of nascent lymphatic endothelial cells, providing migratory cues from the extracellular matrix, of which CCBE1 is thought to be a component.…”

Hennekam lymphangiectasia syndrome: A rare case of primary lymphedema

“…1 It is a very rare syndrome and fewer than 50 cases have been reported in the medical literature. 2 The characteristic signs of Hennekam syndrome are lymphangiectasia, lymphedema, facial anomalies and mental retardation. 3 A 13-year-old boy from Uttar Pradesh, born out of consanguineous parentage, presented with edema of the external genitalia and both of his legs of 8-years duration.…”

Hennekam Syndrome: A Case Report

“…This syndrome was first described by Dutch physician Hennekam in 1989 [ 1 ]. It is a very rare syndrome and fewer than 50 cases have been reported in medical literature [ 2 ].…”