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Hennekam Syndrome: A Case Report.

Yeong Guk Lee¹, Seung Chan Kim¹, Si-Bog Park¹

¹Department of Rehabilitation Medicine, Hanyang University College of Medicine, Seoul, Korea.

Annals of Rehabilitation Medicine

|March 22, 2018

Summary

Hennekam syndrome, a rare lymphatic disorder, presents with characteristic facial anomalies and swelling. This case highlights rehabilitative treatments like decongestive therapy as beneficial for symptom management.

Keywords:

Hennekam lymphangiectasia lymphedema syndrome Lymphedema

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Area of Science:

Genetics and rare diseases
Lymphatic system malformations
Pediatric medicine

Background:

Hennekam syndrome is a rare autosomal recessive disorder.
It results from lymphatic system malformations.
Key signs include lymphangiectasia, lymphedema, facial anomalies, and intellectual disability.

Purpose of the Study:

To report a case of Hennekam syndrome.
To describe the patient's presenting symptoms.
To discuss potential management strategies.

Main Methods:

Clinical case presentation.
Review of patient's symptoms including left-arm lymphedema, facial anomalies, and multi-organ lymphangiectasia.
Discussion of treatment approaches.

Main Results:

The patient presented with symptoms consistent with Hennekam syndrome.
No curative therapy is currently available.
Rehabilitative treatments showed potential benefits.

Conclusions:

Hennekam syndrome requires careful diagnosis based on characteristic signs.
Complete decongestive therapy may help manage lymphedema.
Further research into effective treatments is warranted.