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

## TL;DR

This paper presents a rare case of a 10-month-old boy with right lower limb gigantism and syndactyly caused by macrodystrophia lipomatosa, emphasizing the importance of MRI for diagnosis.

## Contribution

The study contributes a detailed clinical and imaging case report of MDL with syndactyly, highlighting diagnostic MRI features.

## Key findings

- MRI is essential for diagnosing MDL and differentiating it from other overgrowth syndromes.
- MDL can present with limb gigantism and syndactyly in early childhood.
- Early diagnosis and multidisciplinary management are crucial for MDL patients.

## Abstract

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.

Macrodystrophia Lipomatosa (MDL) is a rare condition that may present with progressive limb overgrowth and syndactyly. Early imaging with MRI is essential for distinguishing MDL from other causes of overgrowth syndromes and guiding appropriate management.