Ann Rehabil Med.  2018 Feb;42(1):184-188. 10.5535/arm.2018.42.1.184.

Hennekam Syndrome: A Case Report

• Lee YG
• Kim SC
• Park SB
• Kim MJ

• KMID: 2440985
• DOI: http://doi.org/10.5535/arm.2018.42.1.184

Abstract

Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are lymphangiectasia, lymph edema, facial anomalies, and mental retardation. This is a case in which a patient presented with left-arm lymphedema, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Hennekam syndrome. There is no curative therapy at this time, but rehabilitative treatments including complete decongestive therapy for edema control appeared to be beneficial.

Keyword

Lymphedema; Hennekam lymphangiectasia lymphedema syndrome

MeSH Terms

Edema
Humans
Intellectual Disability
Lymphatic System
Lymphedema

Figure

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  Fig. 1 Lymph edema of left upper extremity.

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  Fig. 2 Dysmorphic face with flat midface, hypertelorism, and broad nasal bridge of front view (A) and side view (B).

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  Fig. 3 On diagnostic evaluation of multiple organs, (A) the simple X-ray of both upper extremities showed no gross bony abnormality. (B) The computed tomography (CT) angiography showed a marked lymphedema in the left upper extremity. (C) The lymphatic scan showed no visible lymphatic flow of left upper extremity, which implies primary lymphedema. (D) The brain MRI showed a focal increased signal intensity (arrow). (E) The chest CT showed lymphangiectasia of both lungs. (F) The abdomen ultrasonography showed lymphangiectasia in small bowel mesentery (open arrow).

Reference

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