A CASE STUDY ON HURLER SYNDROME IN 7-YEARS OLD PATIENT
Pharm D students, Sri Padmavathi School of Pharmacy, Tiruchanur, Tirupati, Andhra Pradesh, India, 517503.
Sai Aswani V
Pharm D students, Sri Padmavathi School of Pharmacy, Tiruchanur, Tirupati, Andhra Pradesh, India, 517503.
Sai Harshitha K B
Pharm D students, Sri Padmavathi School of Pharmacy, Tiruchanur, Tirupati, Andhra Pradesh, India, 517503.
Likitha BSVV
Pharm D students, Sri Padmavathi School of Pharmacy, Tiruchanur, Tirupati, Andhra Pradesh, India, 517503.
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 swelling over left cheek & abnormal facial features since birth, fever vomiting and loose stools1,2. 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.3,4 A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made. The patient was kept on ventilator support. Enzyme replacement modality of treatment can increase a patient's survival rate if an early diagnosis can be made.
11 , 1 , 2021
6 - 8
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