Multifocal juvenile xanthogranuloma presenting with a hand mass and bilateral vitreous hemorrhage in a neonate

To describe a rare case of multifocal juvenile xanthogranuloma (JXG) in a neonate presenting with a large hand mass, bilateral vitreous hemorrhage, and posterior segment involvement.

Biopsy of hand lesion led to the diagnosis of JXG. Further systemic workup and ocular examination revealed bilateral vitreous hemorrhage and a small, creamy yellowish subretinal lesion above the fovea in the macula of the left eye. In addition, there was a subretinal lesion with overlying vitreous fibrosis in the inferonasal quadrant of the left eye.

Treatment with prednisone (2 mg/kg/day) for 2 weeks was initiated before final diagnosis of hand lesion. Steroids were then tapered off over the course of a week with no additional treatment. Follow-up examinations were performed over the course of the next 17 months. On the last follow-up examination at the age of 20 months, the child had central steady and maintained fixation in each eye. The findings of an external ocular examination were unremarkable except for a mild myopic shift in the right eye secondary to trace cataract changes. Dilated fundus examination showed resolution of the lesions in the macula and inferonasal quadrant of the left eye.

Although rare, JXG should be included in the differential diagnosis of spontaneous vitreous hemorrhage in children under the age of 2 years. Topical, periocular, and oral steroids may improve the ocular signs and symptoms in this condition and should be considered in the management of ophthalmic manifestations of JXG.