Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity

Abstract

This case study describes the clinical evaluation and diagnosis of Hurler's syndrome in a 7-month-old child who was noted to have a thoracolumbar kyphosis (gibbus deformity), coarse facial features, and possible evidence of gross motor delay. The diagnosis of Hurler's syndrome was aided specifically by the identification of the gibbus deformity. Children with Hurler's syndrome appear nearly normal at birth, and the most common early presenting features are the nonspecific symptoms of rhinitis and inguinal hernia. Most often, the earliest possible diagnosis of Hurler's syndrome is contingent on the recognition of the initial pattern of musculoskeletal abnormalities, which become increasingly pronounced after the 6th month. Because of the characteristic progression of neurological and intellectual deterioration found in children with Hurler's syndrome, early diagnosis and treatment are critical to the preservation of long-term intellectual development. The pathophysiology of Hurler's syndrome and the causes of kyphosis in infancy and childhood are discussed.