Transcobalamin I as a “marker” for fibrolamellar hepatoma

A 12 year old girl with a localised fibrolamellar hepatoma had a raised serum unsaturated vitamin B12 binding capacity (UBBC) and transcobalamin I (TCI) prior to complete resection and chemotherapy. Regular clinical and radiological follow-up detected no recurrence of her disease, but the UBBC and TCI slowly rose. Local recurrence and pulmonary metastases became detectable 2 1/2 years after diagnosis, 18 months after the UBBC and TCI level became elevated. Measurement of UBBC and TCI can help in the early detection of recurrence long before there is clinical or radiological evidence of recurrent fibrolamellar hepatoma.     

Fatal pneumothorax in “BCNU lung”

A patient with recurrent glioma treated with BCNU developed pneumothorax and interstitial pulmonary fibrosis. She died from “BCNU lung” and its complications, although she was free of her initial disease.     

“Flecked retina”—an association with primary hyperoxaluria

A child with hyperoxaluria, probable Type I, was noted to have a "flecked retina" on funduscopic examination at age 2 1/2 months; it persisted throughout his seven years of life. The relationship of the ocular findings to his metabolic disease is discussed.