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KMID : 1146120160020010023
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Journal of Mucopolysaccharidosis and Rare Diseases
2016 Volume.2 No. 1 p.23 ~ p.26
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Early Diagnosis for Mucopolysaccharidosis I - A 6-month-old Female Infant Presenting with Gibbus, Hirsutism and Mongolian Spots in a Well Baby Clinic
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Lin Hsiang-Yu
Chuang Chih-Kuang
Chang Jui-Hsing
Lin Shuan-Pei
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Abstract
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Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, CO2 laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.
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KEYWORD
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Early diagnosis, Gibbus, Hirsutism, Mongolian spots, Mucopolysaccharidosis I, Surgery
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