Abstract
Hurler syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism. Here, we present the case of a young female patient who presented with features of respiratory distress. In addition, the patient had gingival hypertrophy, spaced dentition, misaligned eruptive permanent dentition, microdontia, coarse facial features, low set ears, depressed nasal bridge, distended abdomen, pectus carinatum, umbilical hernia and J-shaped Sella Turcica on an X-ray of the skull. A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made. The patient was kept on ventilator support from the third day; however, she died on the fifth day of admission. Enzyme replacement modality of treatment can increase a patient's survival rate if an early diagnosis can be made. To the best of our knowledge, only a few cases of Hurler syndrome have been reported in Pakistan.
Highlights
Mucopolysaccharidosis (MPS) represent a set of metabolic disorders, which are autosomal inherited disorders
MPS are lysosomal storage disorders that occur as a result of the deficiency of one group of enzymes, which degrade three classes of mucopolysaccharides: heparan sulphate, dermatan sulfate, and keratan sulfate[1]
There are very few cases of Hurler syndrome reported in Pakistan especially in last few years
Summary
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