Document Detail

Lymphoedema in Tuberous Sclerosis: Case Report and Review of the Literature.
MedLine Citation:
PMID:  24992349     Owner:  NLM     Status:  Publisher    
BACKGROUND:: Tuberous sclerosis has been associated with lower extremity lymphoedema in rare cases, only in females. Our objective was to increase present knowledge about this condition by describing this association of lower limb lymphoedema and tuberous sclerosis, however, in a male patient.
METHODS:: We report the case of a 5-year-old boy who presented with left lower limb congenital lymphoedema and was diagnosed with tuberous sclerosis 9 days after birth based on adequate clinical criteria. This patient's lymphoedema was severe and caused compartment syndrome requiring fasciotomies at 2 days after birth, numerous surgical interventions for chronic wounds and eventually necessitating several toe amputations. A biopsy confirmed benign vascular lymphatic malformation and genetic analysis confirmed the TSC2 mutation. A thorough literature review using the Medline database from 1948 to August 2013 was conducted to investigate the possible association between lower extremity lymphoedema and tuberous sclerosis.
RESULTS:: Our literature review confirms that the 5 reported cases of the association between lower extremity lymphoedema and tuberous sclerosis were all in female patients. Our case is the first, to our knowledge, to identify that the cause of lymphoedema is biopsy-proven benign vascular lymphatic malformation and to confirm that this association may occur in male patients as well.
CONCLUSIONS:: Although the true incidence is unknown, there exists a rare association between tuberous sclerosis and lower extremity lymphoedema, both in female and male patients, which may be severe and lead to compartment syndrome as well as other complications throughout development, including chronic wounds, eventually requiring amputations. A multidisciplinary team approach should be strongly considered.
LEVEL OF EVIDENCE:: Level V (case report).
Pierre Navarre; Benoit Poitras
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-7-2
Journal Detail:
Title:  Journal of pediatric orthopedics     Volume:  -     ISSN:  1539-2570     ISO Abbreviation:  J Pediatr Orthop     Publication Date:  2014 Jul 
Date Detail:
Created Date:  2014-7-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8109053     Medline TA:  J Pediatr Orthop     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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