[Hurler syndrome (a case report)].
A case of Hurler syndrome diagnosed by clinical and laboratory examination is reported. The patient's roentgenograms showed the dystrophies of bones, lace-shaped ribs, boat-shaped cranium, fishhook-shaped forefront protrusion of silla trucica. Corneal opacities and high ocular pressure were found in both eyes. VEP measurement suggested the defects of optic nerve. The authors emphasized that visual electric physiological examinations should be used to estimate the visual functions when the patient's refractive medium is opqaue. The differential diagnosis was also briefly discussed.
Zeng
L
L
Zhongshan Ophthalmic Center, Sun Yat-Sen University of Medical Sciences, Guangzhou, China.
Xu
F
F
Ma
Q
Q
Chen
Y
Y
D002648:Child; D003318:Corneal Opacity / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000175:diagnosis*; D014785:Vision, Ocular