Isolated spinal juvenile xanthogranuloma in an infant presenting as acute paraplegia

Aims: Juvenile xanthogranuloma is a histiocytic proliferative disease which primary occurs in childhood and affects mainly the skin, mostly as a single lesion. Extracutaneous involvement (CNS, eye, skeleton, liver and spleen) is very rare, an isolated spinal juvenile xanthogranuloma in infancy is exceptional, up to now 6 cases are described in the literature.

Methods: Case report

Results: We present a 6 month old infant with an acute paraplegia and no pathological cutaneous findings. She showed no spontaneous movements of her legs and exaggerated deep tendon reflexes. MR-imaging of the spine showed an intraspinal, extradural, extramedullar and spotted contrast medium enhancing mass at level thoracic vertebra 3 to 7, with marked compression of the myelon. After emergency surgery there was complete clinical recovery. Histological and immunohistochemical examination led to a diagnosis of a juvenile xanthogranuloma. In the subsequent 2 year follow up the child hat no neurological deficits and MR-neuroimaging remained normal.

Conclusion: To our knowledge an isolated spinal juvenile xanthogranuloma in the first 12 months of life has not been described. Our girl is the first case with a documented 2 year follow up. 2/3 of the reported children presented, as our case, with paraplegia or tetraplegia. In all children partial or complete removal of the tumor was performed, total removal seems to be curative.

spinal xanthogranuloma - infant - paraplegia