EARLY DIAGNOSIS OF HURLERS-SYNDROME WITH THE AID OF THE IDENTIFICATION OF THE CHARACTERISTIC GIBBUS DEFORMITY

This case study describes the clinical evaluation and diagnosis of Hur ler's syndrome in a 7-month-old child who was noted to have a thoracol umbar kyphosis (gibbus deformity), coarse facial features, and possibl e evidence of gross motor delay. The diagnosis of Hurler's syndrome wa s aided specifically by the identification of the gibbus deformity. Ch ildren with Hurler's syndrome appear nearly normal at birth, and the m ost common early presenting features are the nonspecific symptoms of r hinitis and inguinal hernia. Most often, the earliest possible diagnos is of Hurler's syndrome is contingent on the recognition of the initia l pattern of musculoskeletal abnormalities, which become increasingly pronounced after the 6th month. Because of the characteristic progress ion of neurological and intellectual deterioration found in children w ith Hurler's syndrome, early diagnosis and treatment are critical to t he preservation of long-term intellectual development. The pathophysio logy of Hurler's syndrome and the causes of kyphosis in infancy and ch ildhood are discussed.