JORR
Journal of Orthopedics Research and Rehabilitation

The Journal of Orthopedics Research and Rehabilitation welcomes scholarly papers inorthopaedic surgery, physical therapy and rehabilitation, neurosurgery, neurology and clinic anesthesiology and reanimation. This journal is indexed by indices that are considered international scientific journal indices (DRJI, ESJI, OAJI, etc.). According to the current Associate Professorship criteria, it is within the scope of International Article 1-d. Each article published in this journal corresponds to 5 points.

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Case Report
Atypical Milroy's disease with predominant unilateral involvement: a case report
Abstract
Milroy's disease (MD), known as hereditary lymphedema type I, is a rare autosomal dominant primary lymphedema. It accounts for about twenty percent of all primary lymphedema. MD typically presents clinically with bilateral lower extremity lymphedema. Our case report describes a rare case of MD presenting with unilateral upper and lower extremity lymphedema in a patient admitted to our clinic. A 24-year-old woman who had been followed for lymphedema since the age of 8 was diagnosed with MD at our hospital by physical examination, venous Doppler ultrasound, whole-body lymphoscintigraphy, and molecular genetic testing. Partial improvement was observed with complete decongestive therapy, considered the gold standard treatment for lymphedema. Genetic counseling may be beneficial for the patient and family. Although MD is uncommon in the literature, many more studies are needed to identify carrier variants in the community.

Keywords : Milroy disease, hereditary lymphoedema type I, Fms-associated tyrosine kinase 4, lymphoscintigraphy, complete decongestive therapy

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Article available in :
Volume 2, Issue 4, 2024
Page : 79-81
https://doi.org/10.51271/JORR-0040
Article Information
Received : 22 Eki 2024
Accepted : 25 Eki 2024
Published : 31 Eki 2024
Corresponding Author :

Songül Keskin Kavak: Department of Physical Therapy and Rehabilitation, Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkiye

[email protected]
Citation : Keskin Kavak S. Atypical Milroy’s disease with predominant unilateral involvement: a case report. J Orthop Res Rehabil. 2024;2(4):79-81.

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