Orthopaedic · Radiology · Pathology Conference: Bilateral Leg Pain in a 4-year-old Girl

Excerpt

A 4-year-old girl presented with progressive muscle wasting and bilateral pain of the lower extremities increasing in severity during a period of one year. She had a waddling gait, tendency to fatigue easily, and restless legs at night. Physical examination findings included loss of strength in her hips and knees and apparent muscle wasting. The patient had a valgus deformity of both knees with no other abnormalities on the physical examination. The girl’s birth was uncomplicated and she developed well during her early childhood years. Her basic laboratory and endocrinologic or metabolic laboratory tests were normal. There were no indications of any mental deficits. The patient’s mother experienced similar symptoms in childhood that progressed into adulthood. Her mother also had a delay in puberty and development of secondary gender characteristics. The patient’s two maternal uncles had similar symptoms with development of blindness in one maternal uncle and deafness in the other maternal uncle. The maternal grandmother was asymptomatic but had similar radiographic characteristics as the other family members. …