Roentgenographic findings in Fanconi's anemia.

Abstract

Listen

Translate article

Atriad of severe refractory hypoplastic anemia with pancytopenia, brown pigmentation of the skin, and multiple congenital anomalies was first described by Fanconi (9) in 1927. He reported three siblings who presented this triad which is now known as Fanconi's syndrome or Fanconi's hypoplastic anemia. The condition is rare, about 90 cases having been reported up to 1960, according to Nilsson and others (1–11, 14–17, 19–21, 23). Its distribution is world-wide; it has been reported throughout Europe and the United States as well as in Japan, Turkey, South Africa, and South America. There is no racial or geographic preponderance. The disease is somewhat more common in males than in females in a ratio of approximately 2 to 1. The purposes of this report are to present the clinical and roentgenographic findings in 14 cases, with case histories of 4 of them, to review briefly the clinical manifestations, particularly as they relate to roentgenographic findings, and to discuss the roentgenographic diagnosis of this syndrome. Case Reports Case I: This 9-year-old white female was admitted to University Hospitals for the first time on Sept. 25, 1965, with a chief complaint of cough and fever, which had developed two weeks prior to admission. On physical examination she was found to be 51.5 inches in height with a weight of 54 pounds. Height was in the fiftieth percentile for an eight-year-old, and weight was in the fiftieth percentile for a seven-year-old. The head circumference was 18.5 inches, which is in the fiftieth percentile for an 18-month-old (microcephaly). The child was extremely pale but exhibited a generalized bronze pigmentation. She had syndactyly of the second and third toes bilaterally and was unable to bend her left thumb at the distal phalanx. Blood taken on admission revealed white blood cells 3,500, 17 seg-menteds, 2 bands, 70 lymphocytes, and 11 monocytes. The platelet count was 9,000. Hemoglobin was 3 g per 100 cc, and hematocrit, 8.0. An admission chest film showed bronchopneumonia on the left. Findings on intravenous urography were within normal limits. Skull roentgenograms demonstrated microcephaly (Fig. 1). Skeletal films showed minimal shortening of the right first metacarpal and left first proximal phalanx as compared to the opposite sides (Fig. 2). Films of the feet showed only soft-tissue syndactyly. Several transfusions of packed cells were given as soon as possible after admission. The patient improved considerably following the transfusions, and the hematocrit went to 31. Bone-marrow aspiration and subsequent biopsy revealed a moderately hypoplastic marrow, involving chiefly the megakaryocytes and white cell series. A diagnosis of Fanconi's anemia was made. The family history was interesting and pertinent. A 12-year-old sibling had died in 1962 with Fanconi's syndrome. This sibling had aplastic anemia, an absent thumb, microcephaly, and an absent kidney.