Presentation
Patient originally presented at age 1 year with cough where incidental osteopenia and periosteal reaction was noted on chest radiograph suggesting rickets, followed by spine radiograph. Plain films were performed over the following years for wrist and knee pain. It was at this point when the correct diagnosis was suggested. Genetic analysis confirmed the diagnosis. Subsequent CT head was performed for followup.
Patient Data
Genetic verified diagnosis.
Widened ribs with narrowing of the posterior ribs at the costovertebral junction. "Oar-shaped" ribs.
Oval vertebral bodies with antero-inferior beak.
Kyphosis with thoracolumbar gibbus.
Distal femoral metaphyseal flaring. "Erlenmeyer flask deformity".
Thickened diaphysis with coarse trabecular pattern of the bones.
Proximal tapering of metacarpals. "Fan-shaped" appearance.
Angulated, oblique growth plates with multiple growth arrest lines.
Narrowing at the craniocervical junction causing spinal canal stenosis.
Enlarged sella.
Case Discussion
A series of studies across 3 years for this young child with mucopolysaccharidosis (MPS) type I-H, Hurler syndrome. This autosomal recessive lysosomal storage disease is marked by failed degradation and buildup of glycosaminoglycans throughout the body. Seven distinct types of MPS have been described, which are further subdivided based on the enzyme deficiency. Type I MPS is characterized by a deficient Alpha-L-iduronidase enzyme, leading to buildup of heparin sulphate and dermatan sulphate throughout the body. Hurler syndrome is considered the most severe phenotype of Type I MPS. The main clinical symptoms of this disorder include organomegaly, dysostosis multiplex, cognitive impairment, corneal clouding, and heart disease.
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