Atypical presentation of mucopolysaccharidosis type IVA

2017

Barbara Glover
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402-559-6483

A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular ne-crosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age. Targeted molecular and biochemical testing were normal in this patient. Whole exome sequencing was performed and showed compound heterozygosity for previously reported pathogenic GALNS variants which were diagnostic of mucopolysaccharidosis, type IVA (Morquio A). While this case describes neither a novel condition nor a new mutation, it does illustrate three important points in the diagnosis of patients with atypical forms of MPS IVA. First, that in many instances urine lycosaminoglycan analysis is not sufficient to rule out MPS IVA as a potential diagnosis. Patients in whom biochemical screening is advised should have measurement of leukocyte enzymatic activity. Second, that in patients with radiographic ev-idence of spondyloepi

Mucopolysaccharidosis, Morquio syndrome, Whole exome sequencing, Glycosaminoglycans

Peer-reviewed publications in scholarly journals Published/In Press

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