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Year : 2022  |  Volume : 1  |  Issue : 3  |  Page : 67-69

Siblings with Scheie syndrome

Department of Pediatrics, Govt. TD Medical College, Alappuzha, Kerala, India

Correspondence Address:
Dr. Meenu Anna Varghese
Department of Pediatrics, Govt. TD Medical College, Alappuzha, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pedc.pedc_12_23

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Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Mucopolysaccharidosis type 1 (MPS-1) results from mutation of the IUA gene on chromosome 4p encoding alpha-L-iduronidase. Clinical features vary from severe Hurler-to-mild Scheie syndrome. A 10-year- and 10-month-old boy, born as the third child of nonconsanguineous marriage presented with opacity of bilateral cornea as well as restricted movements and progressive deformity of the spine, bilateral upper limb and lower limb since birth. History of right inguinal hernia repair at 1 year, B/L carpel tunnel surgery at 8 years, and right lamellar keratoplasty at 9 years. H/o repeated upper respiratory infection present. History of fever triggered seizures at 1.6 years and 2 years. Gives h/o delay in attainment of motor milestones. Presently he has poor scholastic performance with difficulties in writing, learning and performing mathematical calculations. Hearing assessment done was normal. Right eye near vision was 20/100 distance equivalent. The left eye showed light perception only. His 13-year-old sibling who has similar complaints since birth. General examination shows coarse facies with corneal clouding, contracture, and deformity of multiple joints. Anthropometry shows underweight and short stature. Hepatosplenomegaly was present. Routine blood investigations were within normal limits. He had a urine MPS screening done at 3 years of age which was positive for MPS-1 and the diagnosis was confirmed based on nucleic acid isolation later at 6.6 years of age. Echocardiogram done was normal. The child was diagnosed to have MPS-1. He was managed by multidisciplinary approach including Recombinant enzyme replacement therapy and medical and surgical treatment for his disabilities.

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