Macrodystrophia Lipomatosa: A Rare Case of Right Lower Extremity Gigantism Associated With Syndactyly

Macrodystrophia lipomatosa (MDL) is a rare sporadic, nonhereditary developmental condition, typically presenting at birth or in early childhood. It is characterized by progressive overgrowth of tissues, mainly due to excess fibrofatty tissue proliferation. This abnormal growth commonly involves nerve sheath, muscle, periosteum, and bone marrow. Herein, we present a case of a 10-month-old boy who was referred to our institution for evaluation of unilateral right lower limb enlargement. Clinical examination revealed soft tissue hypertrophy and syndactyly of the right lower limb. To assess the extent of limb involvement and differentiate MDL from other causes of overgrowth syndromes, a series of imaging studies was conducted. Upon confirmation of diagnosis, the patient was referred to the pediatric surgery department. The study highlights the characteristic clinical and imaging features of MDL, with particular emphasis on the MRI findings, which are essential for accurate diagnosis and differentiation from other causes of limb overgrowth.