[Skip to Content]
Sign In
Individual Sign In
Create an Account
Institutional Sign In
OpenAthens Shibboleth
[Skip to Content Landing]
Special Feature
August 2000

Radiological Case of the Month

Author Affiliations

Copyright 2000 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2000

Arch Pediatr Adolesc Med. 2000;154(8):841-842. doi:10.1001/archpedi.154.8.841

A 21-MONTH-OLD boy was referred to our hospital for evaluation of hydrocephalus and unusual facies. A diagnosis of Hurler syndrome was established on the basis of deficient leukocyte α-L-iduronidase enzyme activity, elevated urinary excretion of glycosaminoglycans, and clinical features. The upper extremity blood pressure at initial evaluation was 90/42 mm Hg, and findings from cardiac auscultation revealed a grade II to III/VI pansystolic murmur heard at the cardiac apex. The liver was enlarged. Pulses were equal to palpation in the upper and lower extremities. A 2-dimensional (D) cardiac sonogram showed thickening of the mitral valve with mild mitral regurgitation, concentric left ventricular hypertrophy, and a normal shortening fraction.

A bone marrow transplantation was performed at age 22 months using marrow obtained from the child's human leukocyte antigen–matched father. A 2-D sonogram, performed at age 23 months, confirmed the previous observations and also demonstrated a discrete acceleration of flow within the thoracic aorta. Fifteen months after the marrow transplantation, the child underwent cardiac catheterization and angiography (Figure 1).