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Mucopolysaccharidosis 1 H-S

MPSI


Presentation

  • AB - In a patient with Hurler-Scheie syndrome, a type of mucopolysaccharidosis (1 H/S), an initial presentation was grouped papules on the extensor surfaces on the upper portions of the arms and legs.[researchers.mq.edu.au]
  • We present a patient with Hurler-Scheie syndrome who developed severe nasal polyposis requiring sinus endoscopic removal.[ohsu.pure.elsevier.com]
  • Patients present in the first years of life with musculoskeletal alterations to different degrees including short stature, multiple dysostosis, thoracic-lumbar kyphosis, progressive coarsening of the facial features to different degrees, cardiomyopathy[orpha.net]
  • Two brothers with Hurler-Scheie syndrome are presented and the oral and systemic complications each patient had described. The syndrome is discussed with particular reference to the orofacial features.[unboundmedicine.com]
  • Generally, severe MPS I will present within the first year of life while less severe (attenuated) forms present during childhood.[mpssociety.org]
Splenomegaly
  • Attenuated Patients Stiffened Joints Skeletal Abnormalities Carpal Tunnel Syndrome Cardiac (Valvular) Disease Recurrent Ear, Nose, and Throat Infections Obstructive Airway Disease/Sleep Apnea Corneal Clouding Spinal Cord Compression Hepatosplenomegaly/Splenomegaly[mps1disease.com]
  • Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia Joint stiffness The cause of MPS I is inherited genetic mutations on chromosome[medicinenet.com]
  • […] the following findings in individuals with Hurler syndrome [2] : Coarse facial features (86.4%) Corneal clouding (70.9%) Heaptomegaly (70.0%) Kyphosis/gibbus (70.0%) Hernias (58.9%) Airway-related symptoms, such as sleep disturbances/snoring (51.6%) Splenomegaly[oncofertility.northwestern.edu]
Short Stature
  • Short stature, coarse face, organomegaly, hernia, cardiac disease, mental delay and dysostosis were observed in variable degrees. At the molecular level, the p.P533R mutation in the IDUA gene was detected in 24 among 26 alleles studied.[cags.org.ae]
  • Significant signs and symptoms are seen between ages 3 to 8 years in children, which include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare professional can use[dovemed.com]
  • Patients present in the first years of life with musculoskeletal alterations to different degrees including short stature, multiple dysostosis, thoracic-lumbar kyphosis, progressive coarsening of the facial features to different degrees, cardiomyopathy[orpha.net]
  • MPS diseases include seven sub-types and although each of the disorders can cause a variety of different symptoms, many of the diseases share similar symptoms, such as corneal clouding, short stature, and joint stiffness.[mps1disease.com]
Macroglossia
  • […] have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[icdlist.com]
Malocclusion
  • ., Source MeSH Adolescent Child Facial Bones Humans Iduronidase Jaw Abnormalities Jaw Cysts Male Malocclusion Mucopolysaccharidoses Mucopolysaccharidosis I Pub Type(s) Case Reports Journal Article Language eng PubMed ID 2115154 Citation Keith, O, et al[unboundmedicine.com]
Receding Chin
  • Hurler-Scheie syndrome one of the three allelic disorders of mucopolysaccharidosis I, with clinical features intermediate between the Hurler and the Scheie syndromes, caused by deficiency of L-iduronidase, and specifically characterized by receding chin[medicine.academic.ru]
Hearing Impairment
  • Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info]
  • The severe form of MPS I is known as Hurler syndrome or MPS I H : Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and hearing impairment, heart disease, and a shortened lifespan.[verywellhealth.com]
  • impairments, heart, liver and lung diseases.[smartspeechtherapy.com]
  • Hearing impairment, most commonly in the high frequency range, is likely caused by a combination of eustachian tube dysfunction, dysostosis of the ossicles of the middle ear, and eighth nerve involvement. ENT (otolaryngologic). Rhinorrhea is common.[ncbi.nlm.nih.gov]
Progressive Hearing Loss
  • Progressive deterioration is seen as the disease progresses. Hearing loss is also typical in Hurler syndrome. As the disease progresses there is an increase in the degree of corneal clouding.[themedicalbiochemistrypage.org]
Arthralgia
  • Less commonly reported infusion reactions included nausea, diarrhea, feeling hot or cold, vomiting, pruritus, arthralgia and urticaria. Additional common adverse reactions included, back pain and musculoskeletal pain.[aldurazyme.com]
Flexion Contracture
  • Other physical findings included progressive flexion contractures and mild developmental delay.[researchers.mq.edu.au]
Hirsutism
  • Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net]
  • Other symptoms may include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism. In Scheie syndrome, the adult-onset, patients are of almost normal height and do not show intellectual deficiency.[cags.org.ae]
  • Other manifestations include organomegaly, hernias and hirsutism.[centogene.com]
Corneal Opacity
  • Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight. Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net]
  • Typical symptoms include stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Patients with Hurler-Scheie syndrome have normal or almost normal intelligence, but exhibit various degrees of physical impairment.[cags.org.ae]
  • Tukey's multiple comparison test demonstrated a statistically significant difference in IOP between the mild and severe corneal opacity groups, but not between mild and moderate, or moderate and severe corneal opacity groups.[nature.com]
  • Diffuse corneal compromise leading to corneal opacity becomes detectable from three years of age. Other manifestations include organomegaly, hernias and hirsutism.[centogene.com]
Thick Lips
  • The early signs usually are coarsening of facial features with enlarged mouth, thick lips, and eye problems that progressively become worse.[medicinenet.com]
  • They also tend to look similar: Shorter than average, with stocky build Large head, bulging forehead Thick lips, widely spaced teeth, and large tongue Short, flat nose with wide nostrils Thick, tough skin Short, broad hands with curving fingers Knock-knees[webmd.com]
Hypertelorism
  • At the age of 12, hypertelorism and spaced teeth were already present in both patients.[link.springer.com]

Workup

  • Clinical Testing and Workup A specialized examination of urine of people with MPS I can reveal elevated levels of glycosaminoglycans (mucopolysaccharides), specifically heparan and dermatan sulfate.[rarediseases.org]

Treatment

  • […] and management and specific treatment of MPSI.[lpamrs.memberclicks.net]
  • Aldurazyme is the first and only FDA approved ERT treatment developed through recombinant DNA technology for individuals with MPS I. For more information, visit the treatment website at .[mpssociety.org]
  • In this patient we previously proved that an emergency treatment could be of benefit once complications have arisen [4].[sciforschenonline.org]
  • Diagnostic methods Early diagnosis is difficult because the first clinical signs are not specific, but is very important to allow early treatment.[orpha.net]
  • These can include enzyme replacement, bone marrow transplant, and other organ specific treatments Prognosis for children with Mucopolysaccharidosis Type I is poor; it often involves death at a young age.[dovemed.com]

Prognosis

  • These can include enzyme replacement, bone marrow transplant, and other organ specific treatments Prognosis for children with Mucopolysaccharidosis Type I is poor; it often involves death at a young age.[dovemed.com]
  • Diagnosis and Prognosis: The diagnosis is likely made by a pediatrician, often with the collaboration of a neurologist, ophthalmologist, and orthopedist.[disorders.eyes.arizona.edu]
  • MPS I patients Usual onset Age 3-8 years Causes Deficiency of the alpha-L iduronidase enzyme Differential diagnosis Other forms of MPS I ; Hunter Syndrome ; other mucopolysaccharidoses Treatment Enzyme replacement therapy with iduronidase ; surgery Prognosis[en.wikipedia.org]
  • Prognosis Life expectancy for Hurler-Scheie syndrome may be reduced, with death occurring before adolescence due to serious cardiovascular and respiratory complications.[orpha.net]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • […] neuropsychological disorders Neuropsychological Assessment and Intervention for Childhood and Adolescent Disorders focuses on the neuropsychological assessment and evidence-based practices available for assessing and treating children living with the etiological[books.google.com]
  • Etiology Hurler-Scheie syndrome is caused by mutations in the IDUA gene (4p16.3) leading to partial deficiency in the alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate.[orpha.net]

Epidemiology

  • Summary Epidemiology The prevalence of MPS I has been estimated at 1/100,000, with Hurler-Scheie syndrome accounting for 23% of cases or a prevalence of approximately 1/435,000.[orpha.net]
  • Epidemiology The prevalence of MPS I has been estimated at 1/100,000, with Hurler-Scheie syndrome accounting for 23% of cases or a prevalence of approximately 1/435,000.[rarediseases.info.nih.gov]
  • Epidemiology Frequency United States The estimated incidence of severe mucopolysaccharidosis type I (MPS I) is about 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns.[emedicine.medscape.com]
  • Epidemiology The estimated incidence of MPS I is 1 in every 100,000 live births [ 2 ]. The mode of inheritance is autosomal recessive [ 3 ]. Genotype-phenotype correlation is poor [ 1 ].[patient.info]
  • Authors’ Affiliations (1) Department of Public Health and Epidemiology, University of Birmingham, Birmingham, B15 2TT, UK (2) Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK ([ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • In this disease, GAGs progressively accumulate in the lysosomes, ultimately causing cell, tissue, and organ dysfunction by largely unknown pathophysiological mechanisms.[emedicine.medscape.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Mucopolysaccharidosis type I (MPS-I) can be categorized into 3 syndromes, Hurler syndrome, Scheie syndrome, and Hurler-Scheie[mayomedicallaboratories.com]
  • Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms. Metab Brain Dis. 2012 Jun;27(2):121-9. doi: 10.1007/s11011-012-9302-1. Epub 2012 Apr 14. Review. Clarke LA.[ghr.nlm.nih.gov]
  • Ultimately the accumulation causes cell, tissue, and organ dysfunction by largely unknown pathophysiological mechanisms.[aldurazyme.com]

Prevention

  • Although early bone marrow transplantation is currently being performed to prevent or reverse many of the systemic manifestations of this disorder, there remains a large population of children past the age at which bone marrow transplantation can be effective[ohsu.pure.elsevier.com]
  • We present the first report of the use of alfa-iduronidase in an intensive regimen to prevent respiratory complications during surgery in a case of Hurler-Sheie syndrome.[sciforschenonline.org]
  • The condition is inherited in an autosomal recessive manner, meaning two copies (one from each parent) of the faulty gene are needed to cause signs and symptoms of the disorder The inheritance of the faulty genes prevents the body from producing an enzyme[dovemed.com]
  • T David Elkin 1, Gail Megason 2, Anita Robinson 2, Hans-Georg O Bock 3, Gregory Schrimsher 1, Joseph Muenzer 2 The University of Mississippi Medical Center, Departments of 1 Psychiatry, 2 Pediatrics, 3 Preventive Medicine, The University of North Carolina[dovepress.com]
  • There is no diet that can prevent the storage of GAGs because they are actually created by the body.[babysfirsttest.org]

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