Hurler Syndrome - MPS I-H Severe Disorder Quiz

Coarse facial features = Characteristic of Hurler syndrome Large tongue = Common in patients with Hurler syndrome Corneal clouding = Visual impairment often seen in Hurler syndrome Enlarged head circumference = Head size abnormality associated with Hurler syndrome

Joint stiffness = Impaired mobility due to skeletal issues Short stature = Growth deficiency in patients with Hurler syndrome Skeletal dysplasia = Abnormal bone development seen in Hurler syndrome Enlarged head circumference = Head size abnormality associated with Hurler syndrome

Valvular heart disease = Development of mitral and aortic valve incompetence Narrowing of coronary arteries = Common occurrence in patients with Hurler syndrome Acute cardiomyopathy = Sudden cardiac issue in infants with Hurler syndrome Obstructive airway disease = Respiratory problem leading to tracheotomy

<p>Combined conductive and neurosensory hearing loss = Type of hearing impairment in individuals with Hurler syndrome Failed neonatal hearing tests = Early sign indicating potential hearing issues in Hurler syndrome Limited language skills = Result of hearing impairment in Hurler syndrome patients Noisy breathing = Symptom related to hearing difficulties in individuals with Hurler syndrome</p> Signup and view all the answers

<p>Communicating hydrocephalus = Progressive ventricular enlargement causing intracranial pressure increase Molecular pathogenesis = Underlying genetic mechanism of Hurler syndrome Recurrent upper respiratory tract infections = Common due to molecular pathogenesis of the disease Persistent copious nasal discharge = Symptom linked to molecular pathogenesis in Hurler syndrome</p> Signup and view all the answers

<p>Pebbly skin changes in MPS-II = Resolved or improved with stem cell transplantation Facial appearance = Stabilized or improved with enzyme replacement therapy Communicating hydrocephalus = Not corrected by stem cell transplantation Hearing loss = Ameliorated by recombinant iduronate-2-sulfatase</p> Signup and view all the answers

<p>Cardiac manifestations = Stabilized or improved with enzyme replacement therapy Posture and joint mobility = Not corrected by stem cell transplantation Skeletal anomalies = Requires appropriate orthopedic procedures Ocular anomalies = Requires appropriate ophthalmologic procedures</p> Signup and view all the answers

<p>Heart disease = Resolved or improved with stem cell transplantation Cardiac manifestations = Stabilized or improved with enzyme replacement therapy Obstructive sleep apnea = Reduces number of episodes with enzyme replacement therapy Communicating hydrocephalus = Not corrected by stem cell transplantation</p> Signup and view all the answers

<p>Enzyme activity in serum and urinary GAG excretion normalize MPS-I and II = Improved long-term outcome when transplantation is done before 24 months of age Enzyme replacement therapy using recombinant a-Liduronidase = Reduces organomegaly and ameliorates growth rate Recombinant iduronate-2-sulfatase = Ameliorates nonneurologic manifestations of Hunter disease Stem cell transplantation = Does not correct skeletal and ocular anomalies</p> Signup and view all the answers

<p>Hearing loss = Ameliorated by recombinant iduronate-2-sulfatase Resolution or improvement of growth = Enhanced life expectancy with hematopoietic stem cell transplantation Stabilize extraneural manifestations = Recommended in young patients before stem cell transplantation Joint stiffness = Improved long-term outcome for MPS-I and II if transplantation is done early</p> Signup and view all the answers

<p>Macrocephaly = Develops as the disease progresses, with thickened calvarium and premature closure of lambdoid and sagittal sutures Shallow orbits = A characteristic craniofacial feature seen in the disease, affecting the eye sockets Enlarged J-shaped sella = An abnormality in the sella turcica seen in patients with the disease Abnormal spacing of teeth with dentigerous cyst = Dental abnormality associated with the condition</p> Signup and view all the answers

<p>Thick ribs and ovoid vertebral bodies = Earliest radiographic signs of the disease Coarsely trabeculated diaphysis of long bones with irregular metaphyses and epiphyses = Characteristic skeletal abnormality observed in patients Enlarged, coarsely trabeculated diaphysis of long bones = Specific abnormality affecting long bones in individuals with the condition Premature closure of lambdoid and sagittal sutures = A feature seen in advanced stages of the disease</p> Signup and view all the answers

<p>Cardiac involvement = A common manifestation contributing to clinical morbidity in patients Upper airway obstruction = Another contributing factor to morbidity besides cardiac issues Survival to adulthood is common = Despite cardiac involvement, many patients reach adulthood due to medical advancements Onset between 3 and 8 years of age = The typical age range at which cardiovascular issues may start appearing</p> Signup and view all the answers

<p>Hurler-Scheie Syndrome - MPS I-H/S = Intermediate form between Hurler and Scheie syndromes with specific molecular characteristics Dysostosis multiplex = Characteristic skeletal dysplasia known in patients with the disease Progressive somatic involvement = A key aspect of the molecular pathogenesis leading to physical symptoms in affected individuals Little or no intellectual dysfunction = A unique feature related to cognitive function in this syndrome</p> Signup and view all the answers

<p>No specific hearing abnormalities mentioned = Not a primary symptom reported in individuals with this condition Hearing difficulties not addressed in detail = Limited information on hearing problems related to this syndrome Primary focus on craniofacial and skeletal abnormalities = The main emphasis is on physical manifestations rather than hearing problems Limited mention of auditory issues in clinical presentation = Hearing concerns are not prominently featured in diagnostic criteria for this syndrome</p> Signup and view all the answers