Albers-Schönberg Disease—A Family Survey

Albers-Schönberg disease or “marble bones” is a disease of unknown etiology, familial in occurrence, and characterized by an increase in the radiographic density of the bones, but with preservation of their structural contour. The condition is usually widespread throughout the skeletal system. On roentgenograms the bones appear almost homogeneous in consistency, and differentiation between compact and cancellous bone is absent. Progressive anemia, which is characteristically seen in the disease, is probably explained by the destruction of the bone marrow by the lime deposits. The base of the skull is frequently involved, and the foramina of exit for the cranial nerves are narrowed. This results in pressure on the cranial nerves, with such sequelae as facial palsy or paralysis, speech defects, deafness, optic atrophy, etc. The presence of some of these sequelae, namely, partial facial paralysis, bilateral impaired hearing, and a speech defect, along with intractable headache, was the clinical reason for the reference for roentgenograms of the skull of our first patient with Albers-Schönberg disease. After the disease was recognized in the first patient, roentgenograms of all members of the family were subsequently made, a procedure which should be followed wherever possible. This survey included all ten children of the family, the two parents, two sisters of the mother, and both maternal grandparents. The paternal grandparents were deceased. The disease was found in four of the children but in none of the other members of the family. Chart I summarizes the incidence of Albers-Schönberg disease in three generations of the family under discussion. Case histories of the affected members of the family follow: Case I (Figs. 1–4): E. G. P. was the first one of the family to be studied radiographically. She is a 17-year old Negro female, appearing much older. Her requisition for examination read: “Disorder of 7th and 8th cranial nerves and intractable headache.” Her facial expression was blank and grotesque. She was unable to wrinkle her forehead or smile. Her mouth was small, with thin lips, and drawn to the left. Hearing was impaired on both sides. Her mentality was subnormal, with difficulty in remembering and inability to reason well. Her speech was slow, with a nasal quality, and difficult to understand. The Hinton and Eagle tests were normal. The blood findings were: hemoglobin 60 per cent; red cells 4,380,000; white cells 8,250; acid phosphatase, 0.4 unit; alkaline phosphatase, 3 units; calcium, 8.4 mg. per 100 c.c. Visual fields were diminished bilaterally. Roentgenographically all the bones forming the skull were dense, with unusual thickening of the tables. In some places these measured 2.5 cm. Diploic bone appeared as dense and compact as cortical bone. The optic foramina were narrowed. The thoracic cage, pelvis, and bones of the upper and lower extremities showed similar dense, compact changes.