Lipomatosa Macrodystrophia: Pediatric Case Report of a Congenital Anomaly in the Lower Limb

Background: This report presents the case of a rare, sporadic, non-hereditary congenital anomaly called Macrodystrophia Lipomatosa, which manifests as congenital localized gigantism. It is characterized by the proliferation of all the mesenchymal elements of a single digit or multiple digits. This is coupled with an excessive increase of fibro-adipose tissue involving the nerve sheath, muscle, periosteum and bone marrow.

Case Presentation: We present the case of a 1-year-old girl, who had presented to Security Forces Hospital, Riyadh, Saudi Arabia with congenital unilateral enlargement of the left forefoot. The localized enlargement involved the second, third and fourth toes. A detailed clinical history was recorded and routine radiography (X-Ray) and magnetic resonance imaging (MRI) scans were performed, to assess the skeletal structures. Amputation of the hypertrophic tissue followed by surgical reconstruction of the forefoot ensured optimum management of the case. 

Conclusion: This report is among the few cases of this rare condition, reported from Saudi Arabia. This case report emphasizes and reiterates the significant role of eliciting detailed patient history, conducting a thorough radiographic examination including MRI scans and planning optimum surgical interventions, for patients of Macrodystrophia Lipomatosa. The overall treatment plan needs to adequately address the patients' cosmetic and functional disturbances and should mitigate the risk of potential neuro-vascular involvement.