Hurler syndrome-a case report of infrequently encountered diagnosis

Sunidhi Rohatgi; Manan Shah; Vraj Bhatt

doi:10.18203/2320-6012.ijrms20223668

Authors

Sunidhi Rohatgi Baroda Medical College, Gujarat, India
Manan Shah Baroda Medical College, Gujarat, India
Vraj Bhatt Baroda Medical College, Gujarat, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20223668

Keywords:

Down syndrome with Hurler syndrome, Autosomal recessive, Umbilical hernia

Abstract

Hurler syndrome also known as mucopolysaccharidosis type 1H (MPS-1H) or gargoylism is an autosomal recessive disorder due to defective gene which encodes for enzyme alpha L-iduronidase (IUDA) located on chromosome 4p16.3 (gene encoding protein iduronidase). In the present case, 4-year Down’s syndrome child with coarse facial features, hypothyroidism presented with umbilical hernia. Clinical diagnosis of Hurler syndrome was made corelating with clinical features, X-ray findings.

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Author Biography

Sunidhi Rohatgi, Baroda Medical College, Gujarat, India

UNDERGRADUATE FINAL YEAR MBBS STUDENT

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