Presentation
The patient, diagnosed with Hurler-Scheie syndrome via molecular genetic testing at 11 months of age, was referred for imaging to establish a baseline assessment of neurological involvement, as this was the first encounter in the new care setting. The patient had previously been receiving enzyme replacement therapy (ERT), and following move to the US, family sought to establish care and continue ERT.
Patient Data
scattered mildly prominent perivascular spaces (including the corpus callosum)
dural thickening about the foramen magnum with associated craniovertebral junction stenosis
beaked appearance of the cervical vertebral bodies and ligamentous/dural thickening about the foramen magnum with associated craniovertebral junction stenosis.
Case Discussion
Hurler-Scheie syndrome (MPS I H-S) is an intermediate phenotype of mucopolysaccharidoses type I (MPS I), one of the eleven lysosomal storage disorders. MPS I is caused by a deficiency in the enzyme alpha-L-iduronidase, which is essential for the breakdown of glycosaminoglycans (GAGs), specifically dermatan sulfate and heparan sulfate 1. Hurler-Scheie syndrome is typically diagnosed between the ages of 2-6 years and presents with a wide range of systemic manifestations, including coarsened facial features, hepatosplenomegaly, joint contractures, and neurological complications 2,3.
In this case, molecular testing confirmed a diagnosis of Hurler-Scheie syndrome at the age of 11 months. When the patient presented to us at the age of 12 years, a constellation of symptoms was present, including facial coarsening, macrocephaly, umbilical hernia, generalized joint pain with multiple contractures, aortic dilation, hearing impairment, and corneal opacities. These features are consistent with the known manifestations of MPS I H-S. MRI findings included white matter changes, hydrocephalus, prominent perivascular spaces, a J-shaped sella and cerebral atrophy. The imaging also revealed typical skeletal abnormalities such as enlarged and thickened calvaria, frontal bossing, and beaked-appearance of the cervical vertebrae. At the cervicomedullary junction narrowing of the foramen magnum was noted.
Management of Hurler-Scheie syndrome primarily involves enzyme replacement therapy (ERT) to slow progression 4. In this case, the patient was initiated on ERT, which aims to reduce the accumulation of GAGs and mitigate some of the systemic manifestations. Despite treatment, the multisystemic complications of MPS I H-S require ongoing management. Regular follow-up is planned to monitor the patient's neurological status, cardiovascular health, and orthopedic issues. Although life expectancy for individuals with Hurler-Scheie syndrome can extend into the late teens or early twenties, early diagnosis and intervention are key to improving quality of life and functional outcomes.
This case is submitted in collaboration with Dr. Amanda Aguilera, Loma Linda University Medical Center.
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