5-year-old boy was diagnosed with neurofibromatosis type 1 (NF1) eight months after birth. He has displayed café-au-lait spots, axillary freckling, macrocephaly, sphenoid dysplasia, brain hamartomas, right temporal arachnoid cyst, and optic glioma. Visual evoked potentials showed evidence of bilateral functional deficit.
15 years old patient presented with clinical syndrome of fever, fatigue, and diarrhea. Laboratory findings showed severe anemia with findings of microangiopathic hemolysis (schistocytes, hyperbilirubinemia, elevated LDH) and severe thrombocytopenia. He was later documented to have fluctuating ADAMTS13 activity that appeared to correlate with the hematologic abnormalities. He also had urinary findings of hematuria, moderate proteinuria, and creatinine as high as 1.4 mg/dL.
1.5-year-old male suffered from eye swelling. His MRI revealed expansive lesion of left lateral orbital wall origin, with compression on the lateral rectus muscle. Later he was hospitalized due to fever and vomiting in left orbital lesion, suspecting a metastatic neuroblastoma. His eye examination revealed exophthalmus of the eye with exophoria and light dysfunction of the lateral rectus. His biopsies were indicative of stroma-poor neuroblastoma.
1.5-year-old male suffered from eye swelling. His MRI revealed expansive lesion of left lateral orbital wall origin, with compression on the lateral rectus muscle. Later he was hospitalized due to fever and vomiting in left orbital lesion, suspecting a metastatic neuroblastoma. His eye examination revealed exophthalmus of the eye with exophoria and light dysfunction of the lateral rectus. His biopsies were indicative of stroma-poor neuroblastoma.
2-year-old female had been diagnosed with Pleuropulmonary Blastoma. The disease extent included the lung and pleura with no signs of metastatic spread. It was decided to start with 3 cycles of chemotherapy and afterwards to carry out a CT scan reassessment and surgical operation. The expert agrees that patients treated with combination of chemotherapy and complete surgical resection do better. Achieving total resection of the tumor results in a significantly better prognosis, whereas extrapulmonary involvement at diagnosis results in worse prognosis.
2-year-old girl was diagnosed with pleuropulmonary blastoma (PPB). She presented with cough and fever which was treated as pneumonia. When her symptoms did not improve, a chest X-ray showed a right lower lobe infiltrate with pleural effusion and a cystic lesion superiorly. She was further treated with antibiotics and improved clinically, but follow-up with chest CT showed a persistent cystic area in the right lower lobe and pneumothorax. She thus underwent pleural drainage and thoracoscopic biopsy, revealing a diagnosis of "cystic pleuropulmonary blastoma".
