Guidelines for the Management of Mucopolysaccharidosis Type I

Hurler-Scheie syndrome with subclinical hypothyroidism: A case report

“…Measurement of a-L-iduronidase activity in cultivated chorionic villus or amniocytes is routinely used in pre-natal MPS I diagnosis . 9 .…”

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders

“…4,8,9 Cardiovascular abnormalities observed in MPS I because of GAG infiltration of cardiac tissue include valvular disease, endocardial fibroelastosis, arrhythmias, congestive heart failure, aortic stenosis and myocardial ischaemia. [10][11][12][13][14] In addition, patients with MPS I may suffer from respiratory infections and obstructive sleep apnoea, with GAGs infiltrating into airway soft tissues, cartilage and the thoracic cage. 13,15 GAGs may also accumulate in the central nervous system (CNS), including within the meninges and even adjacent bone.…”

“…[10][11][12][13][14] In addition, patients with MPS I may suffer from respiratory infections and obstructive sleep apnoea, with GAGs infiltrating into airway soft tissues, cartilage and the thoracic cage. 13,15 GAGs may also accumulate in the central nervous system (CNS), including within the meninges and even adjacent bone. 13 Individuals with the severe form of MPS I may have developmental delay, particularly speech delay, which is then followed by a decline in cognitive, visual and auditory function.…”

Management of Children with Intellectual and Developmental Disability in an African Setting

“…The combination of these assessments can furnish relevant information on intellectual deterioration and clinical evolution in patients. Choice of assessment instruments (psychometric tests) should be based on chronological age and the patient's visual, auditory, and motor abilities (Martins et al, 2009). The last genetic diseases we succeed in catching were two cases of Apert syndrome.…”