Metastatic skull swelling secondary to neuroblastoma in a child

A 15 month old male child presented to the department of Paediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India, in February 2014, with complaints of fever, progressive pallor, abdominal mass and visible skull swelling (Fig. 1). X-ray of the skull (Fig. 2) raised the possibility of metastatic neuroblastoma. Other differential diagnoses included fibrous dysplasia, Ewing’s sarcoma, osteoid osteoma and Paget’s disease of the bone. Positron emission tomographycomputed tomography scan showed left adrenal mass with metastasis to lung, vertebra, lymph nodes and skull. Bone marrow and left iliac lymph node biopsy showed metastatic tumour cells immunopositive for chromogranin A and synaptophysin and negative for leucocyte common antigen, pan-cytokeratin and MIC2. Twenty four hour urine vanillylmandelic acid was high (72.6 mg/g of creatinine). The child was started on four weekly cycles of chemotherapy (consisting of cisplatin, doxorubicin, cyclophosphamide and etoposide), which not only reduced the skull swelling but also helped reduce the requirement for transfusion over a follow up period of six months. The child received five cycles of chemotherapy after which reassessment showed reduction in primary mass and metastatic swelling but the primary mass was surgically irresectable.