J Korean Radiol Soc.  1981 Dec;17(3):549-554. 10.3348/jkrs.1981.17.3.549.

Progressive diaphyseal dysplasia (Engelmann's disease): report of a case

• Soh MH
• Rhee SJ
• Won JJ

• KMID: 2463389
• DOI: http://doi.org/10.3348/jkrs.1981.17.3.549

Abstract

Progressive diaphyseal dysplasia is a rare condition and radiographic finding provides conclusive proof. Wehave experienced a sporadic case of progressive diaphyseal dysplasia (Engelmann's disase) of 8 year-old Korean girl, confirmed by radiographic skeletal survey and biopsy. This patient was admitted to the Joenbug National University because of painful swelling of the distal part of the right femur after trauma and intermittent pain inher lower legs with a pecular wadding gait for 2 years. On a phsyical examination, the patient appeared thin aslender. The skeletal musculature was poorly developed and the upper and lower extremities were weak. She walkedwith a peculiar waddling gait. The height was normal. No joint abnomrality was noted and the mental state was alert. The child was the product of a normal gestation and delivery. Radiographic studies of the skeleton showed ageneralized and symmetrical distribution of the bone characterized by conrtial thickening, fusiform enlargement,and a narrowed medullary cavity in the diaphyses of long bones while the epiphses and metaphses was not involved. Abrupt demacracation of the lesion with loss of normal trabecular pattern was noted. Elongation of the extremities relative to the size of the child was present. The above radiographic finding showed involvement of all the longtubular bones such as the ulna, radius, tibia, fibula, femur and humerus. A slight sclerosis of the base of herskull was present, but the calvarium was not involved. The hands, feet, pelvis, spine, clavicle, rib, scapula and mandible were not affected. There was no specific laboratory finding except for the slightly elavated ESR. Histological examination of the bone biopsies from the femur revealed thickening of periosteum and proliferation of the walls of the small arterioles with reduction in the size of the lumen. The bony cortex showed essentially normal bone with the increased osteoblalstic and osteoblastic activity.

MeSH Terms

Arterioles
Biopsy
Camurati-Engelmann Syndrome*
Child
Clavicle
Diaphyses
Extremities
Female
Femur
Fibula
Foot
Gait
Hand
Humans
Humerus
Joints
Leg
Lower Extremity
Mandible
Osteoblasts
Pelvis
Periosteum
Pregnancy
Radius
Ribs
Scapula
Sclerosis
Skeleton
Skull
Spine
Tibia
Ulna