Purpose or Case Report: We report a case of systemic juvenile xanthogranuloma affecting the liver in an 18 month old male.
Methods & Materials: The patient’s electronic medical record was reviewed including clinical notes, laboratory data, surgical pathology and treatment. Diagnostic imaging studies reviewed include plain-films, CT, US and MRI.
Results: A previously healthy 18 month old male presented to the emergency department with congestion, fever and abdominal distention. Abnormal labs included pancytopenia and elevation of liver function tests. Initial clinical impression favored a viral illness with secondary pancytopenia. The patient was discharged and returned 1 month later with spiking fevers and abdominal distention. Imaging demonstrated hepatomegaly and numerous solid, oval liver lesions which were hypoechoic on US and hypodense on CT. On MRI with IV Eovist the lesions were T1 & T2 hyperintense and hypointense on hepatocyte phase. A skeletal survey was normal. Differential considerations included infection, neoplasm and metastatic disease. Percutaneous biopsy of two liver lesions was performed and pathology confirmed juvenile xanthogranuloma (JXG). Our patient received chemotherapy (Velban and Prednisone) that is typically used for Langerhans cell histiocytosis. 4 months later the patient's symptoms and labs had normalized and CT demonstrated near complete resolution of liver lesions.
Conclusions: JXG is a rare form of non-Langerhans cell histiocytosis typically diagnosed before the age of 1.
95% of cases present as isolated cutaneous disease with yellow, brown skin nodules involving the head, neck and trunk. Prognosis is favorable and skin lesions remain stable or gradually regress without treatment. Organ involvement is rare, occurring in only 5% of all cases and can present with or without cutaneous disease. Organs commonly involved include the orbit, lung, muscle, CNS, liver, spleen and heart. Systemic JXG is associated with an increased risk of serious complications requiring aggressive medical therapy. Our patient presented with multiple liver lesions, but lacked cutaneous disease. Imaging findings on CT, US and MRI were non-specific, but critical to assess sites and extent of disease. Percutaneous biopsy was necessary to establish the diagnosis of systemic JXG. Chemotherapy led to a favorable response. This rare histiocytic disorder should be considered in a young child presenting with imaging findings of multiple liver lesions, and when present, skin lesions are helpful to establish the correct diagnosis.