Work

A surgical challenge: correcting hallux duplication and syndactyly in a pediatric patient with Gaucher disease and unprecedented skeletal manifestations

Year: 2025

Type: article

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.

Source: Journal of Surgical Case Reports

DOI: 10.1093/jscr/rjaf587

Authors: José F Contreras, Carlos Diaz Q

Institutions: Universidad Panamericana, Universidad Francisco Marroquín

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,000