Infant with a skin lesion and respiratory distress

Description

A 2-month-old full-term male infant presented with worsening tachypnoea and a rapidly enlarging, smooth-topped, infiltrative, bronze-yellow nodule with overlying telangiectasias on the mid-sternum (figure 1A). CT imaging demonstrated multiple pulmonary nodules, and enhancing extradural masses compressing the L4–L5 vertebral neural foramina. Immunohistochemical staining of biopsies from skin and pulmonary lesions demonstrated a highly proliferative histiocytosis (figure 1B), which was positively immunoreactive for ALK (anaplastic lymphoma kinase) (figure 1C), CD33 and factor XIIIa, weakly positive for CD68, and negative for CD1a, Langerin, CD34, CD20, CD3, CD43, SOX10, S100, C-KIT, lysozyme and myeloperoxidase. These findings were consistent with a diagnosis of ALK+ histiocytosis with pathological features of juvenile xanthogranulomatosis (JXG). Whole body MRI and positron emission tomography (PET)/CT imaging (figure 2) confirmed that the extensive pulmonary and compressing spinal cord lesions were fluorodeoxyglucose (FDG)-avid, and further revealed an additional, metabolically active right meningeal/parietal parenchymal brain tumour...

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