Familial panmyelophthisis; Fanconi syndrome in adults.

Case i. Sch., Franz, was born in 192.1. As a boy he was nicknamed “the negro” because of marked pigmentation. He was healthy apart from bouts of eczema. In 1939, at the age of i8 he had poliomyelitis with resulting weakness of the abdominal muscles. Anemia was discovered for the first time during this illness, with hemoglobin levels varying betwen 6o and 8o per cent. In April 1945, the hemoglobin was again 6o per cent. In August 1945, the hemoglobin had declined to 53 per cent and in September to i per cent. He was given transfusions and ‘ ‘ Ferroredoxin” therapy and his hemoglobin rose to 8o per cent. When seen early in 1946 after accidental burning of one arm, his hemoglobin had again dropped to 48 per cent and he was transfused. In June of that year his hemoglobin was 6 per cent. He complained of being very tired and developed dyspnea with little cxertion. He also complained of severe pains in the tibiae and vertebrae, slight edema and gingivitis. In November 1946, three teeth were extracted because of stomatitis and this was followed by fever ranging between 38 and 40 C. ; there was profuse bleeding, the hemoglobin declining to 30 per cent, and later to 2.4 per cent. Temporary improvement followed transfusions and penicillin therapy. Later that year he had bronchopneumonia and his hemoglobin was found to be only io per cent. He died in March 1947, at the age of 2.6 years. Physical examination showed that the form and the size of the head were normal, as were the genitalia. The skin showed a marked greyish pigmentation, especially on the face, forearms and to a lesser extent on the abdomen. Petechiae were seen in the skin and mucous membranes in 1944 and in November 1946 at the time of the teeth extraction, he showed marked pallor, gingivitis, stomatitis and glossitis, and there were hemorrhages in the fundi of the eyes. The heart was found to be slightly enlarged and in September 1945, the blood pressure was 130/70. The electrocardiogram was normal at that time but in November 1946, showed signs of myocardial damage. The urine showed urobilinogen and indican, but no porphyrin. Serum bilirubin was 0.3 mg. per cent and phosphates and phosphatase were normal. The Takata-Ara reaction was negative, the Weltman coagulation band was 0.2.5 (enlarged) and the serum proteins were 6.8 Gm. per cent. Hematologic findings: The course of the anemia has already been indicated and is shown in figure i. The red cell counts initially were between 1.7 and 3.5 million per cu. mm., later dropping to i.i to 1.2. million per Cu. mm. and finally to 66o,ooo per Cu. mm. The color index varied from 0.96 tO 1.39, but was usually over 1.7.. The white blood cells in 1939 were 1,700 to 8,300 per Cu. mm. During 1945, the count was about 4,coo per Cu. mm. at first, later dropping to between 2.,oCo and 4,coo per cu. mm. In November 1946, the count was only oo per cu. mm. and finally reached as low as 310 per Cu. mm. The polymorphs scre 63 per cent at the beginning, with 2.5 per cent lymphocytes. This gradually changed so that the polymorphs dropped to 8 per cent and then to 34 per cent, the lymphocytes rising to 31 per cent and later to 6o per cent. Monocytes varied between 4 and io per cent and the eosinophils between i and 3 per Cent. The blood smear showed anisocytosis of marked degree throughout the illness, with macrocytosis and microcytosis, and poikilocytosis. Polychromasia was marked for a long time. Reticulocytes were 1.4 per cent in June 1946 but later declined to 0.3 and 0.4 per cent. The platelets were noted to be diminished in August 1945 and counts during the next year lay between 4,600 and 31,000, with a drop finally to I,ooo per cu. mm.