Hurley Syndrome: Clinical Management Challenge and Value of Early Diagnosis
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Abstract
Mucopolysaccharidosis type I (MPS I) is a rare disease characterized by deficiency of a-L-iduronidase, a lysosomal enzyme responsible for the degradation of glycosaminoglycans (GAGs) of dermatan sulfate and heparan sulfate, leading to pathological GAGs accumulation in the body. It is a hereditary autosomal recessive disorders and its phenotypes may vary. Its early signs and symptoms can be specific such as ocular opacity and spinal deformity or can mimic those from many other diseases such as recurrent ear infections and even hearing loss, herniae, heart symptoms and frequent respiratory infections, leading to difficulties in diagnosis and treatment. Early treatment can avoid the appearance of irreversible sequela and decrease significantly disease progression. Here we report a six year old female patient with a late diagnosis of MPS I when she was 20 months old. According to its clinical history, although no specific baseline diagnosis was established, she already presented at that age neuropsychomotor retardation, left ventricular hypertrophy, recurrent airway infections, adenoidectomy and two umbilical and inguinal herniorraphies. The correct diagnosis, even though late, allowed the initiation of enzyme replacement therapy (ERT), better follow-up of possible clinical complications and also family genetic counseling.
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