Progressive Diaphyseal Dysplasia (Engelmann's Disease)

Abstract

In 1929, engelmann (1) called attentionI to a bizarre disease, which he referred to as “osteopathia hyperostotica sclerotisans multiplex infantilis,” involving the long bones of an eight-year-old boy. Nine years prior to this, a similar case with identical radiographic findings had been described by Cockayne (2). It was not until 1943, when Riley and Shwachman (3) reported 2 additional cases, that attention was again called to this unusual condition. In 1948 Neuhauser et al. (4) published 4 cases, 2 of which had been previously reported (3) under the simpler descriptive title, progressive diaphyseal dysplasia. Since then, several examples have been added to the literature. In view of the perplexing facets of this condition and lack of knowledge regarding its etiology, we offer an additional case with the hope that by the accumulation of enough material some insight into this unusual disease can be obtained. Case Presentation W. R., a white boy of live and a half years (Fig. 1). was admitted to the Texas Children's Hospital on June 7, 1954 becau se of a peculiar gait. He began walking at eleven months of age and apparently had no difficulty until the age of two years. Development of the unusual gait was insidious and it was first brought to the attention of the parents by persons outside the family. The patient tired easily and frequently complained of ankle pain and leg cramps, but joint swelling was never noticed. He had been examined by several physicians and was considered to have postparalytic poliomyelitis. Radiologic examination of the pelvis and hips had been reported negative. Review of systems was normal except for a history of occasional shortness of breath associated with vague chest pain and tachycardia. The child was the product of a normal gestation and delivery and at birth weighed 7 pounds. His appetite had always been good, with adequate but not excessive vitamin intake. After the age of two years, however, his weight gain had been very slow. His development during infancy was within normal limits. He walked alone at eleven months and said single words at twelve months. Past illnesses included frequent upper respiratory infections and chickenpox at the age of four years. Tonsillectomy was performed at four and a half years of age, and a few months later a left cryptorchism was repaired. Both parents were in good health and there was no familial history of osseous or neuromuscular disorders. The maternal grandfather and a great uncle were diabetics. On physical examination, the patient appeared thin and undernourished, but alert and intelligent. He walked with a peculiar waddling gait as though he were “stiff at the knees and flat footed.” The skeletal musculature was poorly developed and the upper and lower extremities were weak. The height was normal, but the weight was only 35 pounds. No joint abnormalities were noted.