source: Proceedings of the Royal Society of Medicine
The patient, Mrs V W, was born prematurely by breech delivery on 21 April 1937. At birth it was noticed that she had talipes equinovalgus deformity of both feet. During infancy there was a marked delay in motor milestones and generalized hypotonia. The hypotonia persisted through childhood, but intellectual development seemed normal. Frequent bruising and purpura of the skin and a tendency to laceration of the skin on minor trauma with poor healing were noted.
An increased range of joint movements was noticed and she underwent various orthopedic procedures including bilateral rotation osteotomies of tibia and femur to improve her gait. On account of poor circulation of her legs, lumbar ganglionectomy was performed in 1951.
Symptoms in more recent years include slowly progressive ‘weakness’ and at present she can walk approximately fifty yards with the aid of calipers and crutches.
King's College Hospital London
full text source