Plain X-ray of our patient's arms with dysostosis multiplex manifested as distal radius and ulna with abnormal angulation and tilting of the distal epiphyses (red arrow). Ideally, treatment should start as soon as possible however, an early diagnosis is rare for MPS type II, so therapy usually only starts when alterations are almost irreversible. Early initiation of ERT has a great effect on some tissues that are more difficult to reach later on, like bones and cardiac valves. This evidence suggests that life expectancy may be increased by ERT. Treatment for MPS type II is directed at treating symptoms but, since 2006, enzyme replacement therapy (ERT) is also available with proven improvements in some somatic manifestations, such as improved forced vital capacity on pulmonary function tests (PFTs), decreased size of organomegalies, and an improvement on the six-minute walk test (6MWT) distance. If left untreated, cardiorespiratory failure is commonly the cause of death by 10 to 15 years of age in the severe forms, but those with mild forms can survive until beyond the fifth decade of life. Neurological involvement as hydrocephalus, cerebral atrophy, and cognitive impairment is seen in severe forms. Organomegalies (mainly of the liver and spleen) also occur. Patients may also suffer from hearing loss, frequent ear infections, as well as retinal deterioration. Respiratory involvement presents as recurrent upper and lower respiratory tract infections and sleep apnoea and cardiac impairment with cardiomyopathy, mitral or aortic stenosis, and regurgitation are common. Ĭlinical signs and symptoms include coarse facial features, short neck, and large head with growth retardation (resulting in short stature of the disproportionate type characterized by a short trunk) associated with skeletal deformities (dysostosis multiplex), contractures, joint stiffness, and carpal tunnel syndrome. Individuals with mild disease have a minimal neurological deficit and can reach adulthood, but still show the disease’s other characteristics. Up to 2/3 of MPS type II affected patients have neurological impairment. The main distinction between the two types of manifestations is associated with central nervous system involvement, mainly represented by cognitive impairment and behavioral problems. The severity of this disease is broad, from mild to severe manifestations, with significant heterogenicity. Patients with MPS type II often appear normal at birth and somatic signs usually start between two and four years of age. As a result, multiple organs are gradually affected as GAGs accumulate over time. MPS type II occurs due to a deficiency in the activity of iduronate-2-sulfatase, a lysosomal enzyme, which leads to consequent accumulation of mucopolysaccharides, also called glycosaminoglycans (GAGs). This disease belongs to the group of lysosomal storage disorders. Hunter syndrome or mucopolysaccharidosis (MPS) type II is a rare, X-linked metabolic disease with an estimated prevalence at birth in Europe of 1/166,000. Management of this disease is typically challenging and requires a multidisciplinary approach. The authors present a case of a 36-year-old male with Hunter syndrome to show not only the clinical features typical of this multisystemic disease that should alert to a prompt investigation but also to remind that treatment must start as early as possible to reach the best outcome. Treatment with enzyme replacement therapy is available and can improve the prognosis of this disease. Cardiac and respiratory failure is commonly the cause of early death (before adulthood) for severe forms, but those with attenuated forms who have normal cognitive development can survive until late adulthood. It ranges from mild to severe manifestations and the distinction between them is related to neurological involvement. Affected patients have coarse facial features, growth retardation with short stature, and skeletal deformities called dysostosis multiplex joint stiffness, progressive mental retardation, and organomegaly are some of the clinical signs. Hunter syndrome is a rare lysosomal storage disorder with systemic involvement that occurs over time.
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