Bilateral retinal involvement in juvenile xanthogranuloma—Successful treatment with clofarabine

Abstract

To the Editor Juvenile xanthogranuloma (JXG) is a disorder belonging to a group of non-Langerhans cell histiocytes that typically affects children. Internal organ involvement has been seen in JXG and is associated with increased risk of serious complications.1 JXG is more common in Caucasians than other ethnicities. Approximately 5–17% occurs at birth and 40–70% occurs during the first year of life.2 Male to female ratio in children is 1.5:13 and most cases are sporadic.4 To our knowledge, this is the first report of retinal JXG in a child and we describe salvage of vision following clofarabine treatment. A 1-year-old girl with poor appetite and weight loss was noted to have skin lesions on the nose, face, thorax and legs. She was also diagnosed with diabetes insipidus following increased thirst and was started on desmopressin. She subsequently developed a squint with poor vision in the right eye and thereafter referred to paediatric ophthalmology. Visual acuity testing identified no useful vision in the right eye. Examination of the eyes showed a right sided total retinal detachment with a thickened retina and posterior uveitis, optic disk oedema and early peripheral preretinal fibrosis, with significant inflammatory cells throughout the vitreous in left eye (Figure 1). A biopsy of the two skin lesions on the face was carried out and the pathology of both areaswas of a diffuse collection of foamy histiocytes with Touton type giant cells present, typical of JXG. Magnetic resonance imaging (MRI) showed thickening of the pituitary stalk with enhancement of pineal gland consistent with JXG. The retinal detachment of the right globe was confirmed on MRI. Staging investigations include whole body short tau inversion recovery (STIR), bonemarrowaspirates and trephines. Thesedidnot identify anyabnormalities elsewhere in her body. Shewas started on prednisolone and vinblastine.Whilst on this regimen she had an increase in number and size of skin lesions. Repeated eye examination showed no improvement in vision or retinal findings after 4 months of treatment, and widespread persisting retinal vascular leakage on fluorescein angiography. A repeat skin biopsy revealed continuing active JXG. She was then started on clofarabine (25 mg/m2 for five consecutive days). After just two courses of treatment, her skin lesions were visibly improving and appeared flatter and browner with no new lesions visible. MRI showed resolution of the thickened pituitary stalk. Examination of the eyes after just three courses of clofarabine demonstrated marked improvement of the left eye with resolution of the inflammatory cells in the vitreous, reduced retinal vessel caliber and reduction in foveal thickness (Figure 1). The vision in the left eye was tested at F IGURE 1 Patient with JXGwith retinal and skin involvement. (A) Early peripheral preretinal fibrosis, with significant inflammatory cells throughout the vitreous in left eye, pre-treatment. (B) Resolution of the inflammatory cells in the vitreous, reduced retinal vessel caliber and reduction in foveal thickness in left eye post clofarabine. (C) Skin lesions on the face