ArticleJournal of surgical case reports2025
A surgical challenge: correcting hallux duplication and syndactyly in a pediatric patient with Gaucher disease and unprecedented skeletal manifestations.
Article in Journal of surgical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We present a rare case of a pediatric patient diagnosed with Gaucher disease, a lysosomal storage disorder, co-occurring with hallux duplication and syndactyly, congenital foot malformations. The patient exhibited extreme and uncommon manifestations of Gaucher disease, including massive splenomegaly and severe osteoporosis localized to the affected extremities, which complicated the treatment of the foot deformities. This case is notable due to the unique interaction between two genetically distinct conditions. We explore the clinical implications, treatment challenges, and potential genetic factors that may underlie the co-existence of these rare disorders. This case highlights the importance of comprehensive diagnosis and careful management when dealing with complex, overlapping conditions.
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